3-45746748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45746748
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45746748
    reference: chr 3
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.315+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.292+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.260+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.409+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.205+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-105+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-105+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.205+47T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+47T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6398
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

3-45748221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748221
    reference: chr 3
allele count: 2
allele frequency: 1.703577512776831e-5
allele num: 117400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1520C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1520C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1520C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-51C>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

3-45748221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748221
    reference: chr 3
allele count: 1
allele frequency: 8.517887563884156e-6
allele num: 117400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1520C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1520C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1520C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-51C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-45748226-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748226
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748226
    reference: chr 3
allele count: 1
allele frequency: 8.500943604740126e-6
allele num: 117634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1525G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1525G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-46G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1525G>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-45748234-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748233
    reference: chr 3
allele count: 69
allele frequency: 5.859175979076798e-4
allele num: 117764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1538delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-33delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1538delT
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1538delT
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: AT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-45748237-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748237
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748237
    reference: chr 3
allele count: 3
allele frequency: 2.543795682330795e-5
allele num: 117934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1536T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1536T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1536T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-35T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-35T>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-45748242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748242
    reference: chr 3
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1541A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1541A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-30A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1541A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-45748245-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748245
    reference: chr 3
allele count: 2
allele frequency: 1.689217723272353e-5
allele num: 118398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1544T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1544T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1544T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-27T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-27T>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-45748247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748247
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748247
    reference: chr 3
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1546T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1546T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-25T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1546T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

3-45748249-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748249
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748248
    reference: chr 3
allele count: 9
allele frequency: 7.575885115911043e-5
allele num: 118798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1549delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1549delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-22delG
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1549delG
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: TG
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

3-45748259-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748259
    reference: chr 3
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1558T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1558T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1558T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-13T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-13T>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-45748262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748262
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748262
    reference: chr 3
allele count: 2
allele frequency: 1.666944490748458e-5
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1561C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1561C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1561C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104-10C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206-10C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6855
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-45748272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748272
    reference: chr 3
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-104G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.316G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-104G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.206G>A
  hgvsp: ENSP00000403225.1:p.Gly69Asp
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1571G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.410G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1571G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.206G>A
  hgvsp: ENSP00000373713.4:p.Gly69Asp
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.261G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1571G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.293G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly69Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-45748279-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748279
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748279
    reference: chr 3
allele count: 3
allele frequency: 2.485501242750621e-5
allele num: 120700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-97T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.323T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-97T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.213T>C
  hgvsp: ENST00000389061.5:c.213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1578T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1578T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.417T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.213T>C
  hgvsp: ENST00000445499.1:c.213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.300T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.268T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1578T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr71Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-45748283-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748283
    reference: chr 3
allele count: 7
allele frequency: 5.795469598622334e-5
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.217A>C
  hgvsp: ENSP00000373713.4:p.Ile73Leu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1582A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-93A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.272A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.327A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.217A>C
  hgvsp: ENSP00000403225.1:p.Ile73Leu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.304A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-93A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1582A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1582A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.421A>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ile73Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-45748283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748283
    reference: chr 3
allele count: 16
allele frequency: 1.324678765399391e-4
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-93A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-93A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.304A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.217A>G
  hgvsp: ENSP00000403225.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.272A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.421A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1582A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.217A>G
  hgvsp: ENSP00000373713.4:p.Ile73Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1582A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1582A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.327A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile73Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-45748284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748284
    reference: chr 3
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.422T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.305T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.218T>C
  hgvsp: ENSP00000403225.1:p.Ile73Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-92T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-92T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.218T>C
  hgvsp: ENSP00000373713.4:p.Ile73Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1583T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.328T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1583T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.273T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1583T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile73Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-45748289-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748289
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748289
    reference: chr 3
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.223A>C
  hgvsp: ENSP00000403225.1:p.Ile75Leu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-87A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.223A>C
  hgvsp: ENSP00000373713.4:p.Ile75Leu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-87A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1588A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.333A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.310A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1588A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.278A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.427A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1588A>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile75Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-45748292-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748292
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748292
    reference: chr 3
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.226A>G
  hgvsp: ENSP00000403225.1:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-84A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-84A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.430A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1591A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.336A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.313A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.226A>G
  hgvsp: ENSP00000373713.4:p.Thr76Ala
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1591A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.281A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1591A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-45748293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748293
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748293
    reference: chr 3
allele count: 2
allele frequency: 1.65371258475277e-5
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.337C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.227C>T
  hgvsp: ENSP00000403225.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.431C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1592C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1592C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.227C>T
  hgvsp: ENSP00000373713.4:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1592C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.282C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.314C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

3-45748300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748300
    reference: chr 3
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-76G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.234G>A
  hgvsp: ENST00000445499.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1599G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1599G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.289G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.234G>A
  hgvsp: ENST00000389061.5:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.344G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1599G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.438G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-76G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.321G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys78Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-45748300-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748300
    reference: chr 3
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.234G>T
  hgvsp: ENSP00000403225.1:p.Lys78Asn
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.234G>T
  hgvsp: ENSP00000373713.4:p.Lys78Asn
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.344G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.438G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.289G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1599G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-76G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.321G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1599G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-76G>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1599G>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys78Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

3-45748303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748303
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748303
    reference: chr 3
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.324A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.237A>G
  hgvsp: ENSP00000403225.1:p.Ile79Met
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.441A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1602A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1602A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.292A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.237A>G
  hgvsp: ENSP00000373713.4:p.Ile79Met
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1602A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.347A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile79Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-45748309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748309
    reference: chr 3
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1608A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.298A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.330A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.353A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.243A>G
  hgvsp: ENST00000445499.1:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-67A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.447A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1608A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.243A>G
  hgvsp: ENST00000389061.5:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1608A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val81Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

3-45748312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748312
    reference: chr 3
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.450T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1611T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.246T>C
  hgvsp: ENST00000389061.5:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.301T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.356T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-64T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.333T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.246T>C
  hgvsp: ENST00000445499.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-64T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1611T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1611T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly82Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

3-45748322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748322
    reference: chr 3
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.311A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1621A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.256A>G
  hgvsp: ENSP00000373713.4:p.Ser86Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1621A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1621A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.256A>G
  hgvsp: ENSP00000403225.1:p.Ser86Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.460A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.343A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.366A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser86Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

3-45748325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748325
    reference: chr 3
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1624C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.259C>G
  hgvsp: ENSP00000403225.1:p.His87Asp
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1624C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.463C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.346C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.259C>G
  hgvsp: ENSP00000373713.4:p.His87Asp
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1624C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.314C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.369C>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His87Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-45748325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748325
    reference: chr 3
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.259C>T
  hgvsp: ENSP00000403225.1:p.His87Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.463C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.369C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1624C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1624C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.259C>T
  hgvsp: ENSP00000373713.4:p.His87Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.346C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1624C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.314C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His87Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-45748326-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748326
    reference: chr 3
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-50A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.260A>C
  hgvsp: ENSP00000403225.1:p.His87Pro
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.315A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1625A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-50A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1625A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.347A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.260A>C
  hgvsp: ENSP00000373713.4:p.His87Pro
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1625A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.370A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.464A>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His87Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-45748333-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748333
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748333
    reference: chr 3
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.322C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1632C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1632C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.267C>G
  hgvsp: ENST00000445499.1:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.471C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1632C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.267C>G
  hgvsp: ENST00000389061.5:c.267C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.377C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.354C>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val89Val
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

3-45748341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748341
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748341
    reference: chr 3
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.362C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1640C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.275C>T
  hgvsp: ENSP00000403225.1:p.Ala92Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.330C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.275C>T
  hgvsp: ENSP00000373713.4:p.Ala92Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.479C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1640C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.385C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1640C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala92Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

3-45748354-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748354
    reference: chr 3
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.343T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.375T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1653T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.288T>A
  hgvsp: ENSP00000373713.4:p.Asp96Glu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.492T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.398T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.288T>A
  hgvsp: ENSP00000403225.1:p.Asp96Glu
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1653T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-22T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-22T>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1653T>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp96Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-45748362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748362
    reference: chr 3
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.296C>T
  hgvsp: ENSP00000403225.1:p.Ser99Phe
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.351C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1661C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.383C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.296C>T
  hgvsp: ENSP00000373713.4:p.Ser99Phe
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1661C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.500C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1661C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.406C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser99Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-45748363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748363
    reference: chr 3
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.407T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.501T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1662T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.297T>C
  hgvsp: ENST00000445499.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1662T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1662T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.297T>C
  hgvsp: ENST00000389061.5:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.352T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.384T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser99Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-45748366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748366
    reference: chr 3
allele count: 4
allele frequency: 3.301583109100814e-5
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.387T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.300T>C
  hgvsp: ENST00000445499.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1665T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1665T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.355T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.300T>C
  hgvsp: ENST00000389061.5:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.504T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.410T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1665T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr100Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-45748376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748376
    reference: chr 3
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.1A>G
  hgvsp: ENSP00000389975.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1675A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.514A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.1A>G
  hgvsp: ENSP00000396387.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.310A>G
  hgvsp: ENSP00000373713.4:p.Met104Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.420A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.365A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.310A>G
  hgvsp: ENSP00000403225.1:p.Met104Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1675A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.397A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1675A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-45748395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748395
    reference: chr 3
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.439T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.20T>C
  hgvsp: ENSP00000389975.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.416T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1694T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.20T>C
  hgvsp: ENSP00000396387.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.533T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1694T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.329T>C
  hgvsp: ENSP00000373713.4:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.329T>C
  hgvsp: ENSP00000403225.1:p.Ile110Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.384T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1694T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile110Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-45748408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748408
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748408
    reference: chr 3
allele count: 3
allele frequency: 2.477127852825577e-5
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.452T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1707T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1707T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1707T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+9T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+9T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

3-45748409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748409
    reference: chr 3
allele count: 2
allele frequency: 1.651582215762701e-5
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.453G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1708G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1708G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1708G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+10G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+10G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
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: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-45748414-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748414
    reference: chr 3
allele count: 4
allele frequency: 3.303328103063837e-5
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1713T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1713T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.458T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1713T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+15T>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+15T>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-45748425-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748425
    reference: chr 3
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.469T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1724T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1724T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+26T>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1724T>C
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-45748427-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748427
    reference: chr 3
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1726C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.471C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1726C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+28C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1726C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+28C>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-45748429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748429
    reference: chr 3
allele count: 56682
allele frequency: 4.718074214653149e-1
allele num: 120138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1728G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1728G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1728G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.473G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+30G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+30G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 2.75e1
  variant carriers: 4858
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.75e1
  variant carriers: 3751
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 1133
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 3.75e1
  variant carriers: 5989
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 1400
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.75e1
  variant carriers: 773
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 914
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 9.75e1
  variant carriers: 2535
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 5978
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 643
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 5.25e1
  variant carriers: 2657
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 2895
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 4.25e1
  variant carriers: 5202
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 8.25e1
  variant carriers: 704
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.75e1
  variant carriers: 1151
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 5.75e1
  variant carriers: 1880
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.25e1
  variant carriers: 532
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 108
num of homozygotes: 13761
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-45748430-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748430
    reference: chr 3
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1729C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1729C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.474C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+31C>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1729C>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-45748430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748430
    reference: chr 3
allele count: 4
allele frequency: 3.306714283352347e-5
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1729C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1729C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1729C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+31C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.474C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+31C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-45748431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748431
    reference: chr 3
allele count: 18
allele frequency: 1.488292102129911e-4
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1730G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1730G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.475G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1730G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+32G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+32G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21127
  bin: 9.75e1
  variant carriers: 18
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

3-45748434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748434
    reference: chr 3
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1733C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1733C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.478C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+35C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1733C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-45748435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748435
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748435
    reference: chr 3
allele count: 53142
allele frequency: 4.430493722174978e-1
allele num: 119946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1734A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1734A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1734A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.479A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+36A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+36A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.25e1
  variant carriers: 3959
genotype depth: GenotypeDepth
  all individuals: 9977
  bin: 3.25e1
  variant carriers: 6406
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 1361
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1538
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 4.25e1
  variant carriers: 4176
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 1.75e1
  variant carriers: 1824
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.75e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 893
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 2.75e1
  variant carriers: 5839
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 1081
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 3.75e1
  variant carriers: 5640
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 4.75e1
  variant carriers: 2776
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 797
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.25e1
  variant carriers: 1922
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 108
num of homozygotes: 12654
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

3-45748444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748444
    reference: chr 3
allele count: 3
allele frequency: 2.49214972835568e-5
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1743G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.488G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1743G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1743G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+45G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+45G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

3-45748446-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748446
    reference: chr 3
allele count: 3
allele frequency: 2.491321895397698e-5
allele num: 120418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1745A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1745A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+47A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.490A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1745A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-45748450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45748450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45748450
    reference: chr 3
allele count: 8
allele frequency: 6.656570867517598e-5
allele num: 120182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.388+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.537+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.24+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.333+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.205+1749G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.150+1749G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.150+1749G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463347
  gene symbol: SACM1L
  hgvsc: ENST00000463347.1:n.494G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.333+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.420+51G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.24+51G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11940
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

3-45750954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750954
    reference: chr 3
allele count: 1
allele frequency: 8.786574114752658e-6
allele num: 113810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-36C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-36C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

3-45750956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750956
    reference: chr 3
allele count: 1
allele frequency: 8.764241893076249e-6
allele num: 114100
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-34A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-34A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-45750956-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750956
    reference: chr 3
allele count: 3
allele frequency: 2.629272567922875e-5
allele num: 114100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-34A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-34A>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20507
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-45750969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750969
    reference: chr 3
allele count: 1
allele frequency: 8.64962114659378e-6
allele num: 115612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-21C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-21C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

3-45750971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750971
    reference: chr 3
allele count: 1
allele frequency: 8.622473615230737e-6
allele num: 115976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-19G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-19G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-45750971-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750971
    reference: chr 3
allele count: 1
allele frequency: 8.622473615230737e-6
allele num: 115976
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-19G>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-19G>C
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

3-45750986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750986
    reference: chr 3
allele count: 2603
allele frequency: 2.201045137068543e-2
allele num: 118262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-4A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-4A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 26785
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 2.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
hgvs: c.334-4A>G
num of homozygotes: 47
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

3-45750986-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750986
    reference: chr 3
allele count: 1
allele frequency: 8.455801525426595e-6
allele num: 118262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.421-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.206-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.389-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.25-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.334-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.334-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.25-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.151-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.538-4A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.151-4A>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.334-4A>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-45750992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750992
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750992
    reference: chr 3
allele count: 9
allele frequency: 7.55718268229604e-5
allele num: 119092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.153A>G
  hgvsp: ENST00000541314.1:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.27A>G
  hgvsp: ENST00000455997.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.208A>G
  hgvsp: ENSP00000406263.1:p.Thr70Ala
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.423A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.391A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.27A>G
  hgvsp: ENST00000418611.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.336A>G
  hgvsp: ENST00000389061.5:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.336A>G
  hgvsp: ENST00000445499.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.153A>G
  hgvsp: ENST00000438671.1:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.540A>G
  variant of: http://identifiers.org/hgnc/17059
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr70Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-45750997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45750997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45750997
    reference: chr 3
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.428A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.545A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.32A>G
  hgvsp: ENSP00000389975.1:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.213A>G
  hgvsp: ENST00000441228.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.158A>G
  hgvsp: ENSP00000411966.1:p.Asp53Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.396A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.341A>G
  hgvsp: ENSP00000373713.4:p.Asp114Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.341A>G
  hgvsp: ENSP00000403225.1:p.Asp114Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.158A>G
  hgvsp: ENSP00000443373.1:p.Asp53Gly
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.32A>G
  hgvsp: ENSP00000396387.1:p.Asp11Gly
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp114Gly
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-45751000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751000
    reference: chr 3
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.548A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.344A>G
  hgvsp: ENSP00000373713.4:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.216A>G
  hgvsp: ENST00000441228.1:c.216A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.344A>G
  hgvsp: ENSP00000403225.1:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.161A>G
  hgvsp: ENSP00000411966.1:p.Asn54Ser
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.399A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.161A>G
  hgvsp: ENSP00000443373.1:p.Asn54Ser
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.431A>G
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.35A>G
  hgvsp: ENSP00000389975.1:p.Asn12Ser
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.35A>G
  hgvsp: ENSP00000396387.1:p.Asn12Ser
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn115Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-45751014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751014
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751014
    reference: chr 3
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.445G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.562G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.175G>A
  hgvsp: ENSP00000411966.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.175G>A
  hgvsp: ENSP00000443373.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.358G>A
  hgvsp: ENSP00000403225.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.358G>A
  hgvsp: ENSP00000373713.4:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.49G>A
  hgvsp: ENSP00000396387.1:p.Ala17Thr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.413G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.49G>A
  hgvsp: ENSP00000389975.1:p.Ala17Thr
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala120Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-45751015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751015
    reference: chr 3
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.176C>T
  hgvsp: ENSP00000443373.1:p.Ala59Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.563C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.414C>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.176C>T
  hgvsp: ENSP00000411966.1:p.Ala59Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.359C>T
  hgvsp: ENSP00000403225.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.359C>T
  hgvsp: ENSP00000373713.4:p.Ala120Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.50C>T
  hgvsp: ENSP00000396387.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.50C>T
  hgvsp: ENSP00000389975.1:p.Ala17Val
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.446C>T
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala120Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-45751016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751016
    reference: chr 3
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.177G>A
  hgvsp: ENST00000541314.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.177G>A
  hgvsp: ENST00000438671.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.360G>A
  hgvsp: ENST00000389061.5:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.51G>A
  hgvsp: ENST00000455997.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.415G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.564G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.51G>A
  hgvsp: ENST00000418611.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.447G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.360G>A
  hgvsp: ENST00000445499.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala120Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-45751029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751029
    reference: chr 3
allele count: 3
allele frequency: 2.477414240177052e-5
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.64G>A
  hgvsp: ENSP00000389975.1:p.Val22Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.428G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.190G>A
  hgvsp: ENSP00000443373.1:p.Val64Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.373G>A
  hgvsp: ENSP00000403225.1:p.Val125Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.64G>A
  hgvsp: ENSP00000396387.1:p.Val22Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.577G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.190G>A
  hgvsp: ENSP00000411966.1:p.Val64Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.460G>A
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.373G>A
  hgvsp: ENSP00000373713.4:p.Val125Ile
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val125Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-45751035-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751035
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751035
    reference: chr 3
allele count: 17
allele frequency: 1.403497184749765e-4
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.70A>C
  hgvsp: ENSP00000389975.1:p.Asn24His
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.583A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*35A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.434A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.196A>C
  hgvsp: ENSP00000443373.1:p.Asn66His
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.466A>C
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.70A>C
  hgvsp: ENSP00000396387.1:p.Asn24His
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.379A>C
  hgvsp: ENSP00000403225.1:p.Asn127His
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.196A>C
  hgvsp: ENSP00000411966.1:p.Asn66His
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.379A>C
  hgvsp: ENSP00000373713.4:p.Asn127His
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn127His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-45751035-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45751035
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 45751035
    reference: chr 3
allele count: 6
allele frequency: 4.953519475587405e-5
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000411966
  ensembl transcript: ENST00000438671
  gene symbol: SACM1L
  hgvsc: ENST00000438671.1:c.196A>T
  hgvsp: ENSP00000411966.1:p.Asn66Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000396387
  ensembl transcript: ENST00000418611
  gene symbol: SACM1L
  hgvsc: ENST00000418611.1:c.70A>T
  hgvsp: ENSP00000396387.1:p.Asn24Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000373713
  ensembl transcript: ENST00000389061
  gene symbol: SACM1L
  hgvsc: ENST00000389061.5:c.379A>T
  hgvsp: ENSP00000373713.4:p.Asn127Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000406263
  ensembl transcript: ENST00000441228
  gene symbol: SACM1L
  hgvsc: ENST00000441228.1:c.*35A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000403225
  ensembl transcript: ENST00000445499
  gene symbol: SACM1L
  hgvsc: ENST00000445499.1:c.379A>T
  hgvsp: ENSP00000403225.1:p.Asn127Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000443373
  ensembl transcript: ENST00000541314
  gene symbol: SACM1L
  hgvsc: ENST00000541314.1:c.196A>T
  hgvsp: ENSP00000443373.1:p.Asn66Tyr
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000463237
  gene symbol: SACM1L
  hgvsc: ENST00000463237.1:n.583A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000478586
  gene symbol: SACM1L
  hgvsc: ENST00000478586.1:n.434A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000211456
  ensembl transcript: ENST00000464524
  gene symbol: SACM1L
  hgvsc: ENST00000464524.1:n.466A>T
  variant of: http://identifiers.org/hgnc/17059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000211456
  ensembl protein: ENSP00000389975
  ensembl transcript: ENST00000455997
  gene symbol: SACM1L
  hgvsc: ENST00000455997.1:c.70A>T
  hgvsp: ENSP00000389975.1:p.Asn24Tyr
  variant of: http://identifiers.org/hgnc/17059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn127Tyr
num of homozygotes: 0
population: Other
population: East Asian
reference allele: A

GenotypeQuality
all individuals: 3921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

VQSLOD
type: SiteQuality
SIO_000300: -5.645e-1

DP
type: SiteQuality
SIO_000300: 1.892289e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 3.245e0

GenotypeQuality
all individuals: 1913
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16254
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.367801942278758e-4
allele num: 14622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.064955e6

GenotypeQuality
all individuals: 1456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.74e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 2.064955e6

GenotypeQuality
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 830
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

FS
type: SiteQuality
SIO_000300: 9.214e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

DP
type: SiteQuality
SIO_000300: 2.071438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 3940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16323
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 3054
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.936265681755746e-4
allele num: 65522
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.080259424402108e-4
allele num: 14802
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.487358326068004e-4
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.010454362685967e-4
allele num: 9948
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 1.651e0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.088632e6

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
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GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16269
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15348
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.093515e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16273
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 225
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 4639
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GenotypeQuality
all individuals: 206
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
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GenotypeQuality
all individuals: 644
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
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variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3089
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.97e-1

FS
type: SiteQuality
SIO_000300: 1.668e0

DP
type: SiteQuality
SIO_000300: 2.105837e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16281
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.113435e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 2.615e0

QD
type: SiteQuality
SIO_000300: 1.581e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

GenotypeQuality
all individuals: 17588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16279
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.518e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

FS
type: SiteQuality
SIO_000300: 1.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.119134e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 6670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 4017
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variant carriers: 0

GenotypeQuality
all individuals: 16289
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.969503687462627e-4
allele num: 10034
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.123551e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
all individuals: 3200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 18751
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16299
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.29643621710112e-5
allele num: 15882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 4.147e0

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.879e0

DP
type: SiteQuality
SIO_000300: 2.140555e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
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GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.036e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.815e0

DP
type: SiteQuality
SIO_000300: 2.14472e6

GenotypeDepth
all individuals: 3318
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
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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

African
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

FS
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DP
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QD
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: -6.899999999999999e-1

ReadPosRankSum
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SIO_000300: 6.899999999999999e-1

InbreedingCoeff
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SIO_000300: 4.0e-4

BaseQRankSum
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SIO_000300: -2.693e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011322572874006e-5
allele num: 66416
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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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

FS
type: SiteQuality
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MQ
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MQRankSum
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.864759680871765e-4
allele num: 10278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 1.739432944859976e-4
allele num: 11498
num of homozygotes: 0

East 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

South Asian
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
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allele count: 16
allele frequency: 1.556723097878965e-3
allele num: 10278
num of homozygotes: 0

East Asian
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allele count: 0
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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

Other
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allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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SIO_000300: 2.157284e6

ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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European (Finnish)
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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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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 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
allele num: 11500
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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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East Asian
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African
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South Asian
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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East Asian
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South Asian
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European (Finnish)
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BaseQRankSum
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SIO_000300: 5.25e0

QD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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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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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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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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South Asian
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European (Non-Finnish)
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African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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FS
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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Other
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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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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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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QD
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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African
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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African
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QD
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DP
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
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 count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 4.0e-4

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 6.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8644
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
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
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

FS
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SIO_000300: 2.417e0

BaseQRankSum
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SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.161005e6

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.088e1

MQRankSum
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SIO_000300: 1.36e-1

ClippingRankSum
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SIO_000300: -1.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
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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

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

European (Non-Finnish)
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African
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allele num: 10354
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.418e0

InbreedingCoeff
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SIO_000300: 1.4e-3

MQRankSum
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SIO_000300: 4.63e-1

ReadPosRankSum
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ClippingRankSum
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FS
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DP
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SIO_000300: 2.161379e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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: 7.5e0
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
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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num of homozygotes: 0

African
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Other
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European (Non-Finnish)
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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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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MQ
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SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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

South Asian
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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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African
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allele frequency: 1.928640308582449e-4
allele num: 10370
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European (Finnish)
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Other
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QD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
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num of homozygotes: 0

African
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allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

South Asian
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Other
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European (Finnish)
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Latino
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QD
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.641342074816814e-5
allele num: 10372
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 count: 3
allele frequency: 4.502341217433065e-5
allele num: 66632
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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QD
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SIO_000300: 1.498e1

BaseQRankSum
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SIO_000300: 3.73e0

FS
type: SiteQuality
SIO_000300: 1.131e0

DP
type: SiteQuality
SIO_000300: 2.1622e6

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 2.161472e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
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East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Other
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allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.2e-1

BaseQRankSum
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VQSLOD
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MQRankSum
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SIO_000300: 5.600000000000001e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 2.158517e6

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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South Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

DP
type: SiteQuality
SIO_000300: 2.153545e6

FS
type: SiteQuality
SIO_000300: 1.0319e1

QD
type: SiteQuality
SIO_000300: 1.287e1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.565e-1

ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.88e1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.335e1

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

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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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European (Non-Finnish)
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allele count: 4
allele frequency: 6.006186371963122e-5
allele num: 66598
num of homozygotes: 0

African
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allele count: 0
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
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allele num: 11486
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Other
type: Population
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.502133028901039e-5
allele num: 66572
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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num of homozygotes: 0

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

Other
type: Population
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.141869e6

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 120

GenotypeQuality
all individuals: 41640
bin: 9.75e1
variant carriers: 38667

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 237

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 149

GenotypeQuality
all individuals: 2600
bin: 6.75e1
variant carriers: 416

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 86

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 106

GenotypeQuality
all individuals: 330
bin: 2.25e1
variant carriers: 98

GenotypeQuality
all individuals: 1396
bin: 9.25e1
variant carriers: 720

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 98

GenotypeQuality
all individuals: 298
bin: 4.75e1
variant carriers: 143

GenotypeQuality
all individuals: 1658
bin: 8.25e1
variant carriers: 615

GenotypeQuality
all individuals: 6445
bin: 6.25e1
variant carriers: 330

GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 115

GenotypeQuality
all individuals: 1858
bin: 7.75e1
variant carriers: 524

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 346

GenotypeQuality
all individuals: 1281
bin: 7.25e1
variant carriers: 293

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 96

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 97

African
type: Population
allele count: 4413
allele frequency: 4.281140861466822e-1
allele num: 10308
num of homozygotes: 937

European (Non-Finnish)
type: Population
allele count: 35427
allele frequency: 5.371308144823822e-1
allele num: 65956
num of homozygotes: 9357

East Asian
type: Population
allele count: 2017
allele frequency: 2.343713688124564e-1
allele num: 8606
num of homozygotes: 215

South Asian
type: Population
allele count: 6091
allele frequency: 3.697341265023674e-1
allele num: 16474
num of homozygotes: 1195

European (Finnish)
type: Population
allele count: 3582
allele frequency: 5.472043996333639e-1
allele num: 6546
num of homozygotes: 960

Latino
type: Population
allele count: 4711
allele frequency: 4.149198520345253e-1
allele num: 11354
num of homozygotes: 977

Other
type: Population
allele count: 441
allele frequency: 4.932885906040269e-1
allele num: 894
num of homozygotes: 120

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 2.571e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.08e-2

FS
type: SiteQuality
SIO_000300: 2.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 2.587592e6

GenotypeQuality
all individuals: 4676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.813e1

DP
type: SiteQuality
SIO_000300: 2.390628e6

FS
type: SiteQuality
SIO_000300: 5.121e0

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.369e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 10698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21115
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507482420818559e-5
allele num: 66556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.121e0

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.369e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.390628e6

MQ
type: SiteQuality
SIO_000300: 5.813e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

GenotypeQuality
all individuals: 722
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.943634596695821e-4
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.404568680492937e-4
allele num: 66540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.387539e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.625e1

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21108
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3419
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 3.85e0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

QD
type: SiteQuality
SIO_000300: 2.564e1

DP
type: SiteQuality
SIO_000300: 2.385117e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 2693
bin: 6.75e1
variant carriers: 371

GenotypeQuality
all individuals: 1450
bin: 9.25e1
variant carriers: 658

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 87

GenotypeQuality
all individuals: 183
bin: 2.5e0
variant carriers: 101

GenotypeQuality
all individuals: 1912
bin: 7.75e1
variant carriers: 476

GenotypeQuality
all individuals: 1718
bin: 8.25e1
variant carriers: 575

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 101

GenotypeQuality
all individuals: 1320
bin: 7.25e1
variant carriers: 270

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 98

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 96

GenotypeQuality
all individuals: 399
bin: 4.75e1
variant carriers: 132

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 217

GenotypeQuality
all individuals: 6682
bin: 6.25e1
variant carriers: 320

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 94

GenotypeQuality
all individuals: 484
bin: 3.25e1
variant carriers: 113

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 141

GenotypeQuality
all individuals: 40318
bin: 9.75e1
variant carriers: 36597

GenotypeQuality
all individuals: 895
bin: 8.75e1
variant carriers: 316

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 97

African
type: Population
allele count: 2026
allele frequency: 1.976585365853659e-1
allele num: 10250
num of homozygotes: 203

East Asian
type: Population
allele count: 1610
allele frequency: 1.869484440315838e-1
allele num: 8612
num of homozygotes: 139

European (Non-Finnish)
type: Population
allele count: 35281
allele frequency: 5.357782839787396e-1
allele num: 65850
num of homozygotes: 9293

Latino
type: Population
allele count: 4583
allele frequency: 4.040733556691942e-1
allele num: 11342
num of homozygotes: 919

Other
type: Population
allele count: 426
allele frequency: 4.775784753363229e-1
allele num: 892
num of homozygotes: 109

South Asian
type: Population
allele count: 5636
allele frequency: 3.421979356405586e-1
allele num: 16470
num of homozygotes: 1030

European (Finnish)
type: Population
allele count: 3580
allele frequency: 5.482388973966309e-1
allele num: 6530
num of homozygotes: 961

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 2.841e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.16e-2

FS
type: SiteQuality
SIO_000300: 1.568e0

DP
type: SiteQuality
SIO_000300: 2.378243e6

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 833
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13734
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.746724890829694e-4
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510482750286992e-5
allele num: 66204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.536e0

FS
type: SiteQuality
SIO_000300: 6.899e0

MQ
type: SiteQuality
SIO_000300: 5.699e1

DP
type: SiteQuality
SIO_000300: 2.057852e6

QD
type: SiteQuality
SIO_000300: 1.833e1

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

GenotypeQuality
all individuals: 1009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13732
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.712e-1

DP
type: SiteQuality
SIO_000300: 2.054146e6

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

BaseQRankSum
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SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.969e1

FS
type: SiteQuality
SIO_000300: 2.119e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.993006993006993e-4
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 1.2855e1

VQSLOD
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SIO_000300: -1.329e0

DP
type: SiteQuality
SIO_000300: 2.044298e6

QD
type: SiteQuality
SIO_000300: 1.506e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.570401080435943e-5
allele num: 63678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.484436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.249e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 6.273e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567250728771589e-5
allele num: 63806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.467e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.542e0

DP
type: SiteQuality
SIO_000300: 1.492704e6

FS
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.134501457543178e-5
allele num: 63806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00080064051241e-4
allele num: 9992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.492704e6

FS
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.287567409998542e-5
allele num: 13722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.184e0

DP
type: SiteQuality
SIO_000300: 1.553084e6

VQSLOD
type: SiteQuality
SIO_000300: -1.367e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546264225630876e-5
allele num: 64672
num of homozygotes: 0

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

East Asian
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allele count: 0
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FS
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64672
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 7.203572972194209e-5
allele num: 13882
num of homozygotes: 0

Latino
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.561526e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41641
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5243
bin: 9.75e1
variant carriers: 2541

GenotypeQuality
all individuals: 6302
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 167
allele frequency: 1.465169327952272e-2
allele num: 11398
num of homozygotes: 2

South Asian
type: Population
allele count: 82
allele frequency: 5.485683703505486e-3
allele num: 14948
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 170
allele frequency: 2.583586626139818e-2
allele num: 6580
num of homozygotes: 2

African
type: Population
allele count: 60
allele frequency: 5.849093390524468e-3
allele num: 10258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2107
allele frequency: 3.212184041223282e-2
allele num: 65594
num of homozygotes: 41

Other
type: Population
allele count: 17
allele frequency: 1.963048498845266e-2
allele num: 866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

DP
type: SiteQuality
SIO_000300: 1.665492e6

FS
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5243
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6302
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.68985817500669e-5
allele num: 14948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.665492e6

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

GenotypeDepth
all individuals: 140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 44073
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variant carriers: 0

GenotypeQuality
all individuals: 1144
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
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GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.365829969344705e-4
allele num: 65894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.603158e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 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: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512584704743466e-5
allele num: 66112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.611274e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

FS
type: SiteQuality
SIO_000300: 6.488e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.320313487548983e-5
allele num: 15822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.397e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

DP
type: SiteQuality
SIO_000300: 1.614022e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45692
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.24e0

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.181e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.626319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.328e-1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 45695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

DP
type: SiteQuality
SIO_000300: 1.628289e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 2.315e0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

GenotypeQuality
all individuals: 232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2861
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6951
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.971e0

DP
type: SiteQuality
SIO_000300: 1.629018e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

QD
type: SiteQuality
SIO_000300: 1.489e1

VQSLOD
type: SiteQuality
SIO_000300: -2.386e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6976
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60778859527121e-4
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.63156e6

MQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.588e0

FS
type: SiteQuality
SIO_000300: 7.376e0

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.539053482108503e-3
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 1.633251e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0