18-21492684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492684
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492684
    reference: chr 18
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1946C>G
  hgvsp: ENSP00000464836.1:p.Pro650Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2173C>G
  hgvsp: ENSP00000466557.1:p.Pro725Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7000C>G
  hgvsp: ENSP00000382432.2:p.Pro2334Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7168C>G
  hgvsp: ENSP00000324532.8:p.Pro2390Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2341C>G
  hgvsp: ENSP00000269217.5:p.Pro781Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1746C>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2390Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

18-21492687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492687
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492687
    reference: chr 18
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2344A>G
  hgvsp: ENSP00000269217.5:p.Met782Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2176A>G
  hgvsp: ENSP00000466557.1:p.Met726Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1749A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1949A>G
  hgvsp: ENSP00000464836.1:p.Met651Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7003A>G
  hgvsp: ENSP00000382432.2:p.Met2335Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7171A>G
  hgvsp: ENSP00000324532.8:p.Met2391Val
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met2391Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

18-21492691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492691
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492691
    reference: chr 18
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7175G>A
  hgvsp: ENSP00000324532.8:p.Arg2392Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1953G>A
  hgvsp: ENSP00000464836.1:p.Arg652Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2180G>A
  hgvsp: ENSP00000466557.1:p.Arg727Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2348G>A
  hgvsp: ENSP00000269217.5:p.Arg783Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7007G>A
  hgvsp: ENSP00000382432.2:p.Arg2336Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1753G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg2392Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

18-21492692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492692
    reference: chr 18
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2181G>A
  hgvsp: ENST00000587184.1:c.2181G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7176G>A
  hgvsp: ENST00000313654.9:c.7176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1954G>A
  hgvsp: ENST00000586751.1:c.1954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7008G>A
  hgvsp: ENST00000399516.3:c.7008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2349G>A
  hgvsp: ENST00000269217.6:c.2349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1754G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21590
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2392Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

18-21492692-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492692
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492692
    reference: chr 18
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7008G>T
  hgvsp: ENSP00000382432.2:p.Arg2336Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2349G>T
  hgvsp: ENSP00000269217.5:p.Arg783Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7176G>T
  hgvsp: ENSP00000324532.8:p.Arg2392Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1754G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1954G>T
  hgvsp: ENSP00000464836.1:p.Arg652Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2181G>T
  hgvsp: ENSP00000466557.1:p.Arg727Ser
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2392Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

18-21492696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492696
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492696
    reference: chr 18
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2353A>G
  hgvsp: ENSP00000269217.5:p.Asn785Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2185A>G
  hgvsp: ENSP00000466557.1:p.Asn729Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7012A>G
  hgvsp: ENSP00000382432.2:p.Asn2338Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1758A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1958A>G
  hgvsp: ENSP00000464836.1:p.Asn654Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7180A>G
  hgvsp: ENSP00000324532.8:p.Asn2394Asp
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn2394Asp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-21492697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492697
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492697
    reference: chr 18
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7013A>G
  hgvsp: ENSP00000382432.2:p.Asn2338Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1959A>G
  hgvsp: ENSP00000464836.1:p.Asn654Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2186A>G
  hgvsp: ENSP00000466557.1:p.Asn729Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2354A>G
  hgvsp: ENSP00000269217.5:p.Asn785Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7181A>G
  hgvsp: ENSP00000324532.8:p.Asn2394Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1759A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn2394Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-21492720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492720
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492720
    reference: chr 18
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7036C>T
  hgvsp: ENSP00000382432.2:p.Arg2346Ter
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7204C>T
  hgvsp: ENSP00000324532.8:p.Arg2402Ter
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1982C>T
  hgvsp: ENSP00000464836.1:p.Arg662Ter
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2377C>T
  hgvsp: ENSP00000269217.5:p.Arg793Ter
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1782C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2209C>T
  hgvsp: ENSP00000466557.1:p.Arg737Ter
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21590
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg2402Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

18-21492721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492721
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492721
    reference: chr 18
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2378G>A
  hgvsp: ENSP00000269217.5:p.Arg793Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2210G>A
  hgvsp: ENSP00000466557.1:p.Arg737Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7037G>A
  hgvsp: ENSP00000382432.2:p.Arg2346Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7205G>A
  hgvsp: ENSP00000324532.8:p.Arg2402Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1983G>A
  hgvsp: ENSP00000464836.1:p.Arg662Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1783G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg2402Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/18-21492723-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492723
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492723
    reference: chr 18
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1985C>A
  hgvsp: ENSP00000464836.1:p.Leu663Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1785C>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7039C>A
  hgvsp: ENSP00000382432.2:p.Leu2347Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2380C>A
  hgvsp: ENSP00000269217.5:p.Leu794Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2212C>A
  hgvsp: ENSP00000466557.1:p.Leu738Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7207C>A
  hgvsp: ENSP00000324532.8:p.Leu2403Met
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2403Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

18-21492725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492725
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492725
    reference: chr 18
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2214G>A
  hgvsp: ENST00000587184.1:c.2214G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2382G>A
  hgvsp: ENST00000269217.6:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1787G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7209G>A
  hgvsp: ENST00000313654.9:c.7209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1987G>A
  hgvsp: ENST00000586751.1:c.1987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7041G>A
  hgvsp: ENST00000399516.3:c.7041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21588
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu2403Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

18-21492727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492727
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492727
    reference: chr 18
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7211C>T
  hgvsp: ENSP00000324532.8:p.Pro2404Leu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2384C>T
  hgvsp: ENSP00000269217.5:p.Pro795Leu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1989C>T
  hgvsp: ENSP00000464836.1:p.Pro664Leu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7043C>T
  hgvsp: ENSP00000382432.2:p.Pro2348Leu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1789C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2216C>T
  hgvsp: ENSP00000466557.1:p.Pro739Leu
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2404Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21492729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492729
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492729
    reference: chr 18
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7045A>G
  hgvsp: ENSP00000382432.2:p.Asn2349Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2218A>G
  hgvsp: ENSP00000466557.1:p.Asn740Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1991A>G
  hgvsp: ENSP00000464836.1:p.Asn665Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2386A>G
  hgvsp: ENSP00000269217.5:p.Asn796Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7213A>G
  hgvsp: ENSP00000324532.8:p.Asn2405Asp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1791A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn2405Asp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

18-21492731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492731
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492731
    reference: chr 18
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2220T>C
  hgvsp: ENST00000587184.1:c.2220T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1993T>C
  hgvsp: ENST00000586751.1:c.1993T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7215T>C
  hgvsp: ENST00000313654.9:c.7215T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2388T>C
  hgvsp: ENST00000269217.6:c.2388T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1793T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7047T>C
  hgvsp: ENST00000399516.3:c.7047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21586
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn2405Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

18-21492734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492734
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492734
    reference: chr 18
allele count: 206
allele frequency: 1.697177412710705e-3
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1796C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7218C>T
  hgvsp: ENST00000313654.9:c.7218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2391C>T
  hgvsp: ENST00000269217.6:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2223C>T
  hgvsp: ENST00000587184.1:c.2223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1996C>T
  hgvsp: ENST00000586751.1:c.1996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7050C>T
  hgvsp: ENST00000399516.3:c.7050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp2406Asp
num of homozygotes: 2
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

18-21492737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492737
    reference: chr 18
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7053G>A
  hgvsp: ENST00000399516.3:c.7053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.1999G>A
  hgvsp: ENST00000586751.1:c.1999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1799G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2394G>A
  hgvsp: ENST00000269217.6:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7221G>A
  hgvsp: ENST00000313654.9:c.7221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2226G>A
  hgvsp: ENST00000587184.1:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2407Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

18-21492744-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492744
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492744
    reference: chr 18
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7228T>A
  hgvsp: ENSP00000324532.8:p.Leu2410Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1806T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2006T>A
  hgvsp: ENSP00000464836.1:p.Leu670Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2401T>A
  hgvsp: ENSP00000269217.5:p.Leu801Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7060T>A
  hgvsp: ENSP00000382432.2:p.Leu2354Met
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2233T>A
  hgvsp: ENSP00000466557.1:p.Leu745Met
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu2410Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-21492751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492751
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492751
    reference: chr 18
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2240G>A
  hgvsp: ENSP00000466557.1:p.Gly747Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2408G>A
  hgvsp: ENSP00000269217.5:p.Gly803Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7067G>A
  hgvsp: ENSP00000382432.2:p.Gly2356Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7235G>A
  hgvsp: ENSP00000324532.8:p.Gly2412Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1813G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2013G>A
  hgvsp: ENSP00000464836.1:p.Gly672Glu
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21529
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly2412Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

18-21492756-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492756
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492756
    reference: chr 18
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2018A>T
  hgvsp: ENSP00000464836.1:p.Thr674Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7072A>T
  hgvsp: ENSP00000382432.2:p.Thr2358Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2413A>T
  hgvsp: ENSP00000269217.5:p.Thr805Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7240A>T
  hgvsp: ENSP00000324532.8:p.Thr2414Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1818A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2245A>T
  hgvsp: ENSP00000466557.1:p.Thr749Ser
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2414Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21492757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492757
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492757
    reference: chr 18
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2246C>T
  hgvsp: ENSP00000466557.1:p.Thr749Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7241C>T
  hgvsp: ENSP00000324532.8:p.Thr2414Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2414C>T
  hgvsp: ENSP00000269217.5:p.Thr805Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1819C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2019C>T
  hgvsp: ENSP00000464836.1:p.Thr674Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7073C>T
  hgvsp: ENSP00000382432.2:p.Thr2358Ile
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr2414Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

18-21492759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492759
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492759
    reference: chr 18
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2021T>C
  hgvsp: ENSP00000464836.1:p.Ser675Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2416T>C
  hgvsp: ENSP00000269217.5:p.Ser806Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7243T>C
  hgvsp: ENSP00000324532.8:p.Ser2415Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7075T>C
  hgvsp: ENSP00000382432.2:p.Ser2359Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2248T>C
  hgvsp: ENSP00000466557.1:p.Ser750Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1821T>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2415Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

18-21492762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492762
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492762
    reference: chr 18
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2024C>T
  hgvsp: ENST00000586751.1:c.2024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2419C>T
  hgvsp: ENST00000269217.6:c.2419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7246C>T
  hgvsp: ENST00000313654.9:c.7246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7078C>T
  hgvsp: ENST00000399516.3:c.7078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1824C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2251C>T
  hgvsp: ENST00000587184.1:c.2251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2416Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

18-21492767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492767
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492767
    reference: chr 18
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2256C>T
  hgvsp: ENST00000587184.1:c.2256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2029C>T
  hgvsp: ENST00000586751.1:c.2029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7083C>T
  hgvsp: ENST00000399516.3:c.7083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7251C>T
  hgvsp: ENST00000313654.9:c.7251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2424C>T
  hgvsp: ENST00000269217.6:c.2424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1829C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2417Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-21492801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492801
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492801
    reference: chr 18
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2063G>C
  hgvsp: ENSP00000464836.1:p.Gly689Arg
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7117G>C
  hgvsp: ENSP00000382432.2:p.Gly2373Arg
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2458G>C
  hgvsp: ENSP00000269217.5:p.Gly820Arg
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1863G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2290G>C
  hgvsp: ENSP00000466557.1:p.Gly764Arg
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7285G>C
  hgvsp: ENSP00000324532.8:p.Gly2429Arg
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly2429Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

18-21492808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492808
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492808
    reference: chr 18
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2465C>T
  hgvsp: ENSP00000269217.5:p.Thr822Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2297C>T
  hgvsp: ENSP00000466557.1:p.Thr766Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7124C>T
  hgvsp: ENSP00000382432.2:p.Thr2375Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2070C>T
  hgvsp: ENSP00000464836.1:p.Thr691Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7292C>T
  hgvsp: ENSP00000324532.8:p.Thr2431Ile
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1870C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21528
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr2431Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

18-21492816-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492816
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492816
    reference: chr 18
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2473A>G
  hgvsp: ENSP00000269217.5:p.Met825Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2078A>G
  hgvsp: ENSP00000464836.1:p.Met694Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1878A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2305A>G
  hgvsp: ENSP00000466557.1:p.Met769Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7300A>G
  hgvsp: ENSP00000324532.8:p.Met2434Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7132A>G
  hgvsp: ENSP00000382432.2:p.Met2378Val
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met2434Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

18-21492826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492826
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492826
    reference: chr 18
allele count: 33
allele frequency: 2.723716139256178e-4
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2315T>C
  hgvsp: ENSP00000466557.1:p.Met772Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1888T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2088T>C
  hgvsp: ENSP00000464836.1:p.Met697Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2483T>C
  hgvsp: ENSP00000269217.5:p.Met828Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7142T>C
  hgvsp: ENSP00000382432.2:p.Met2381Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7310T>C
  hgvsp: ENSP00000324532.8:p.Met2437Thr
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met2437Thr
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: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

18-21492844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492844
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492844
    reference: chr 18
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2501A>G
  hgvsp: ENSP00000269217.5:p.Asp834Gly
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2106A>G
  hgvsp: ENSP00000464836.1:p.Asp703Gly
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7328A>G
  hgvsp: ENSP00000324532.8:p.Asp2443Gly
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2333A>G
  hgvsp: ENSP00000466557.1:p.Asp778Gly
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7160A>G
  hgvsp: ENSP00000382432.2:p.Asp2387Gly
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1906A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp2443Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

18-21492853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492853
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492853
    reference: chr 18
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+8T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+8T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+8T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+8T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+8T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+8T>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: c.7329+8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

18-21492855-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492855
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492855
    reference: chr 18
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+10G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+10G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+10G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+10G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+10G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+10G>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-21492860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492860
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492860
    reference: chr 18
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+15G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+15G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+15G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+15G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+15G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+15G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  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: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21492861-A-ACATCTCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492861
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492869
    reference: chr 18
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: ACATCTCTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-21492863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492863
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492863
    reference: chr 18
allele count: 10
allele frequency: 8.299030673217368e-5
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+18A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+18A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+18A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+18A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+18A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+18A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

18-21492872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492872
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492872
    reference: chr 18
allele count: 4
allele frequency: 3.324799680819231e-5
allele num: 120308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+27G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+27G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+27G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+27G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+27G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+27G>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-21492873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492873
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492873
    reference: chr 18
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+28T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+28T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+28T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+28T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+28T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+28T>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

18-21492878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492878
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492878
    reference: chr 18
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+33G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+33G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+33G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+33G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+33G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+33G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21492883-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492883
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492883
    reference: chr 18
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+38A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+38A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+38A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+38A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+38A>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+38A>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

18-21492884-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492884
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492884
    reference: chr 18
allele count: 8
allele frequency: 6.66289102841723e-5
allele num: 120068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+39A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+39A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+39A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+39A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+39A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+39A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21513
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21492892-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492892
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492892
    reference: chr 18
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+47C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+47C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+47C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+47C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+47C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+47C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-21492893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492893
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492893
    reference: chr 18
allele count: 6
allele frequency: 5.011275369581559e-5
allele num: 119730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+48G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+48G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+48G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+48G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+48G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+48G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21506
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

18-21492897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492897
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492897
    reference: chr 18
allele count: 3
allele frequency: 2.506642602897679e-5
allele num: 119682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+52G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+52G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+52G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+52G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+52G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+52G>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

18-21492897-GGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21492897
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21492895
    reference: chr 18
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2334+56_2334+57delTG
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7329+56_7329+57delTG
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7161+56_7161+57delTG
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1907+56_1907+57delTG
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2107+56_2107+57delTG
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2502+56_2502+57delTG
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: GGT
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-21494325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494325
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494325
    reference: chr 18
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-49T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-49T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-49T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-49T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-49T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-49T>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9385
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

18-21494339-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494339
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494339
    reference: chr 18
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-35A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-35A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-35A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-35A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-35A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-35A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-21494343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494343
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494343
    reference: chr 18
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-31G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-31G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-31G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-31G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-31G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-31G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

18-21494344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494344
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494344
    reference: chr 18
allele count: 71
allele frequency: 5.851712656183035e-4
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-30A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-30A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-30A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-30A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-30A>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-30A>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27115
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

18-21494352-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494352
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494352
    reference: chr 18
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-22T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-22T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-22T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-22T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-22T>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-22T>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9339
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

18-21494352-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494352
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494352
    reference: chr 18
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-22T>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-22T>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-22T>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-22T>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-22T>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-22T>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

18-21494353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494353
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494353
    reference: chr 18
allele count: 34
allele frequency: 2.80209002950436e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-21G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-21G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-21G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-21G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-21G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-21G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-21494356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494356
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494356
    reference: chr 18
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-18G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-18G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-18G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-18G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-18G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-18G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

18-21494370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494370
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494370
    reference: chr 18
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-4C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-4C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-4C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-4C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-4C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-4C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: c.7330-4C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

18-21494371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494371
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494371
    reference: chr 18
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330-3C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908-3C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503-3C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335-3C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162-3C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108-3C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.7330-3C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21494374-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494374
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494374
    reference: chr 18
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2108G>C
  hgvsp: ENSP00000464836.1:p.Ala704Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7330G>C
  hgvsp: ENSP00000324532.8:p.Ala2444Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2335G>C
  hgvsp: ENSP00000466557.1:p.Ala779Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7162G>C
  hgvsp: ENSP00000382432.2:p.Ala2388Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1908G>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2503G>C
  hgvsp: ENSP00000269217.5:p.Ala835Pro
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2444Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

18-21494377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494377
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494377
    reference: chr 18
allele count: 4
allele frequency: 3.296196189597204e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1911T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7165T>C
  hgvsp: ENSP00000382432.2:p.Ser2389Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2111T>C
  hgvsp: ENSP00000464836.1:p.Ser705Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2506T>C
  hgvsp: ENSP00000269217.5:p.Ser836Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7333T>C
  hgvsp: ENSP00000324532.8:p.Ser2445Pro
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2338T>C
  hgvsp: ENSP00000466557.1:p.Ser780Pro
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2445Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

18-21494380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494380
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494380
    reference: chr 18
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2114C>T
  hgvsp: ENSP00000464836.1:p.Arg706Trp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2341C>T
  hgvsp: ENSP00000466557.1:p.Arg781Trp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7336C>T
  hgvsp: ENSP00000324532.8:p.Arg2446Trp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2509C>T
  hgvsp: ENSP00000269217.5:p.Arg837Trp
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1914C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7168C>T
  hgvsp: ENSP00000382432.2:p.Arg2390Trp
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2446Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

18-21494381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494381
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494381
    reference: chr 18
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2115G>A
  hgvsp: ENSP00000464836.1:p.Arg706Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7337G>A
  hgvsp: ENSP00000324532.8:p.Arg2446Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1915G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2342G>A
  hgvsp: ENSP00000466557.1:p.Arg781Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2510G>A
  hgvsp: ENSP00000269217.5:p.Arg837Gln
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7169G>A
  hgvsp: ENSP00000382432.2:p.Arg2390Gln
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2446Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

18-21494391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494391
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494391
    reference: chr 18
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1925C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7179C>T
  hgvsp: ENST00000399516.3:c.7179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2125C>T
  hgvsp: ENST00000586751.1:c.2125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2352C>T
  hgvsp: ENST00000587184.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7347C>T
  hgvsp: ENST00000313654.9:c.7347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2520C>T
  hgvsp: ENST00000269217.6:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile2449Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

18-21494392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494392
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494392
    reference: chr 18
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2126G>A
  hgvsp: ENSP00000464836.1:p.Gly710Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7348G>A
  hgvsp: ENSP00000324532.8:p.Gly2450Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1926G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2521G>A
  hgvsp: ENSP00000269217.5:p.Gly841Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7180G>A
  hgvsp: ENSP00000382432.2:p.Gly2394Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2353G>A
  hgvsp: ENSP00000466557.1:p.Gly785Ser
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly2450Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

18-21494393-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494393
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494393
    reference: chr 18
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2354G>T
  hgvsp: ENSP00000466557.1:p.Gly785Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7181G>T
  hgvsp: ENSP00000382432.2:p.Gly2394Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1927G>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7349G>T
  hgvsp: ENSP00000324532.8:p.Gly2450Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2127G>T
  hgvsp: ENSP00000464836.1:p.Gly710Val
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2522G>T
  hgvsp: ENSP00000269217.5:p.Gly841Val
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9309
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34896
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly2450Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

18-21494398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494398
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494398
    reference: chr 18
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1932G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7354G>A
  hgvsp: ENSP00000324532.8:p.Ala2452Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2132G>A
  hgvsp: ENSP00000464836.1:p.Ala712Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7186G>A
  hgvsp: ENSP00000382432.2:p.Ala2396Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2527G>A
  hgvsp: ENSP00000269217.5:p.Ala843Thr
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2359G>A
  hgvsp: ENSP00000466557.1:p.Ala787Thr
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala2452Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

18-21494405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494405
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494405
    reference: chr 18
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2139T>C
  hgvsp: ENSP00000464836.1:p.Val714Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1939T>C
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2534T>C
  hgvsp: ENSP00000269217.5:p.Val845Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7193T>C
  hgvsp: ENSP00000382432.2:p.Val2398Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2366T>C
  hgvsp: ENSP00000466557.1:p.Val789Ala
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7361T>C
  hgvsp: ENSP00000324532.8:p.Val2454Ala
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2454Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

18-21494412-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494412
    reference: chr 18
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2146C>G
  hgvsp: ENST00000586751.1:c.2146C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1946C>G
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2541C>G
  hgvsp: ENST00000269217.6:c.2541C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2373C>G
  hgvsp: ENST00000587184.1:c.2373C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7200C>G
  hgvsp: ENST00000399516.3:c.7200C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7368C>G
  hgvsp: ENST00000313654.9:c.7368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27409
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly2456Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

18-21494421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494421
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494421
    reference: chr 18
allele count: 9
allele frequency: 7.417541661859001e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1955C>T
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2550C>T
  hgvsp: ENST00000269217.6:c.2550C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7377C>T
  hgvsp: ENST00000313654.9:c.7377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2155C>T
  hgvsp: ENST00000586751.1:c.2155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7209C>T
  hgvsp: ENST00000399516.3:c.7209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2382C>T
  hgvsp: ENST00000587184.1:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr2459Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-21494439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494439
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494439
    reference: chr 18
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1973G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7227G>A
  hgvsp: ENST00000399516.3:c.7227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7395G>A
  hgvsp: ENST00000313654.9:c.7395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2173G>A
  hgvsp: ENST00000586751.1:c.2173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2400G>A
  hgvsp: ENST00000587184.1:c.2400G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2568G>A
  hgvsp: ENST00000269217.6:c.2568G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly2465Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

18-21494443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494443
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494443
    reference: chr 18
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2572C>T
  hgvsp: ENSP00000269217.5:p.Arg858Cys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2404C>T
  hgvsp: ENSP00000466557.1:p.Arg802Cys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7399C>T
  hgvsp: ENSP00000324532.8:p.Arg2467Cys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2177C>T
  hgvsp: ENSP00000464836.1:p.Arg727Cys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7231C>T
  hgvsp: ENSP00000382432.2:p.Arg2411Cys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1977C>T
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg2467Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-21494444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494444
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494444
    reference: chr 18
allele count: 11
allele frequency: 9.066780963056989e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1978G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7232G>A
  hgvsp: ENSP00000382432.2:p.Arg2411His
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7400G>A
  hgvsp: ENSP00000324532.8:p.Arg2467His
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2573G>A
  hgvsp: ENSP00000269217.5:p.Arg858His
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2405G>A
  hgvsp: ENSP00000466557.1:p.Arg802His
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2178G>A
  hgvsp: ENSP00000464836.1:p.Arg727His
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9222
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg2467His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

18-21494446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494446
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494446
    reference: chr 18
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7402G>A
  hgvsp: ENSP00000324532.8:p.Glu2468Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7234G>A
  hgvsp: ENSP00000382432.2:p.Glu2412Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2575G>A
  hgvsp: ENSP00000269217.5:p.Glu859Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2407G>A
  hgvsp: ENSP00000466557.1:p.Glu803Lys
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1980G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2180G>A
  hgvsp: ENSP00000464836.1:p.Glu728Lys
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu2468Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21494464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494464
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494464
    reference: chr 18
allele count: 7
allele frequency: 5.771958178040173e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7252G>A
  hgvsp: ENSP00000382432.2:p.Asp2418Asn
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2198G>A
  hgvsp: ENSP00000464836.1:p.Asp734Asn
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2593G>A
  hgvsp: ENSP00000269217.5:p.Asp865Asn
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7420G>A
  hgvsp: ENSP00000324532.8:p.Asp2474Asn
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2425G>A
  hgvsp: ENSP00000466557.1:p.Asp809Asn
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.1998G>A
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9214
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp2474Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-21494466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494466
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494466
    reference: chr 18
allele count: 4
allele frequency: 3.298261816022956e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7422C>A
  hgvsp: ENSP00000324532.8:p.Asp2474Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7254C>A
  hgvsp: ENSP00000382432.2:p.Asp2418Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2427C>A
  hgvsp: ENSP00000466557.1:p.Asp809Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.2000C>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2200C>A
  hgvsp: ENSP00000464836.1:p.Asp734Glu
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2595C>A
  hgvsp: ENSP00000269217.5:p.Asp865Glu
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp2474Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

18-21494473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494473
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494473
    reference: chr 18
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2434T>C
  hgvsp: ENST00000587184.1:c.2434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7429T>C
  hgvsp: ENST00000313654.9:c.7429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2207T>C
  hgvsp: ENST00000586751.1:c.2207T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7261T>C
  hgvsp: ENST00000399516.3:c.7261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2602T>C
  hgvsp: ENST00000269217.6:c.2602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.2007T>C
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu2477Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

18-21494477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494477
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494477
    reference: chr 18
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7265C>G
  hgvsp: ENSP00000382432.2:p.Thr2422Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7433C>G
  hgvsp: ENSP00000324532.8:p.Thr2478Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2606C>G
  hgvsp: ENSP00000269217.5:p.Thr869Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2438C>G
  hgvsp: ENSP00000466557.1:p.Thr813Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2211C>G
  hgvsp: ENSP00000464836.1:p.Thr738Ser
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.2011C>G
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2478Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

18-21494496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494496
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494496
    reference: chr 18
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2230G>A
  hgvsp: ENST00000586751.1:c.2230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7452G>A
  hgvsp: ENST00000313654.9:c.7452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2625G>A
  hgvsp: ENST00000269217.6:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.2030G>A
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2457G>A
  hgvsp: ENST00000587184.1:c.2457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7284G>A
  hgvsp: ENST00000399516.3:c.7284G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu2484Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

18-21494500-G-GTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21494500
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21494503
    reference: chr 18
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: GTTT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000324532
  ensembl transcript: ENST00000313654
  gene symbol: LAMA3
  hgvsc: ENST00000313654.9:c.7458_7459insTTT
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000382432
  ensembl transcript: ENST00000399516
  gene symbol: LAMA3
  hgvsc: ENST00000399516.3:c.7290_7291insTTT
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000464836
  ensembl transcript: ENST00000586751
  gene symbol: LAMA3
  hgvsc: ENST00000586751.1:c.2236_2237insTTT
  hgvsp: ENSP00000464836.1:p.Val746_Met747insPhe
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000053747
  ensembl transcript: ENST00000588770
  gene symbol: LAMA3
  hgvsc: ENST00000588770.1:n.2036_2037insTTT
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000269217
  ensembl transcript: ENST00000269217
  gene symbol: LAMA3
  hgvsc: ENST00000269217.6:c.2631_2632insTTT
  hgvsp: ENSP00000269217.5:p.Val877_Met878insPhe
  variant of: http://identifiers.org/hgnc/6483
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000053747
  ensembl protein: ENSP00000466557
  ensembl transcript: ENST00000587184
  gene symbol: LAMA3
  hgvsc: ENST00000587184.1:c.2463_2464insTTT
  hgvsp: ENSP00000466557.1:p.Val821_Met822insPhe
  variant of: http://identifiers.org/hgnc/6483
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val2486_Met2487insPhe
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21589
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5316
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0543e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 8.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 2.358683e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4987
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 6.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

QD
type: SiteQuality
SIO_000300: 1.645e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.616e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

DP
type: SiteQuality
SIO_000300: 2.358764e6

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.359035e6

VQSLOD
type: SiteQuality
SIO_000300: -4.595e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 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: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.359085e6

GenotypeQuality
all individuals: 3205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 21590
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 2.359085e6

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21589
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5315
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

DP
type: SiteQuality
SIO_000300: 2.35918e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5315
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.359169e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12720
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variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 6.369e0

DP
type: SiteQuality
SIO_000300: 2.359633e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 11562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.3511e1

DP
type: SiteQuality
SIO_000300: 2.359601e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 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: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.509e0

DP
type: SiteQuality
SIO_000300: 2.35955e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.91e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 4982
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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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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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: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.869e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.7e-3

VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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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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bin: 8.75e1
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele 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

South Asian
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allele frequency: 6.056935190793458e-5
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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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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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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SIO_000300: 8.289999999999999e0

VQSLOD
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MQRankSum
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SIO_000300: 7.39e-1

ReadPosRankSum
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SIO_000300: 7.07e-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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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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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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Latino
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allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

African
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allele frequency: 3.843936190659235e-4
allele num: 10406
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European (Non-Finnish)
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allele frequency: 2.967270111497423e-3
allele num: 66728
num of homozygotes: 2

East Asian
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European (Finnish)
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allele count: 1
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allele num: 6612
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

South Asian
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ReadPosRankSum
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SIO_000300: 7.22e-1

VQSLOD
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DP
type: SiteQuality
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MQ
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MQRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -3.103e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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African
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allele num: 10406
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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DP
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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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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ClippingRankSum
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DP
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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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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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African
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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MQRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ReadPosRankSum
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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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Other
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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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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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 2.359507e6

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21528
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 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: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

FS
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.359405e6

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.359445e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 12778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21528
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4980
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.358786e6

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 5296
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 2.358176e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.356636e6

FS
type: SiteQuality
SIO_000300: 4.608e0

VQSLOD
type: SiteQuality
SIO_000300: -1.667e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.779e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21541
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 4231
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 12646
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.503828254015914e-4
allele num: 66610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.356974e6

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.384e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

FS
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5938
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
all individuals: 12325
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2545
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
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: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
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

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 2.349213e6

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4958
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 21515
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 2.344985e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.718e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21516
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 8.75e1
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GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 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: 11486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.344136e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.026e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5256
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variant carriers: 0

GenotypeQuality
all individuals: 2542
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.341489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.383e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.843e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.324e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21516
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4227
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.264e1

QD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 2.340785e6

GenotypeQuality
all individuals: 4226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21519
bin: 9.75e1
variant carriers: 10

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
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: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.358613610289234e-4
allele num: 66244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 2.33955e6

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 1.525e0

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5248
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GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.692632566870014e-4
allele num: 8524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

FS
type: SiteQuality
SIO_000300: 3.637e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 2.333941e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.927e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

QD
type: SiteQuality
SIO_000300: 1.733e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 2.333265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.792e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

GenotypeQuality
all individuals: 5775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4221
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GenotypeQuality
all individuals: 80
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
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: 8508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.741e1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.329702e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21510
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variant carriers: 1

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 567
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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: 8496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.071e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

DP
type: SiteQuality
SIO_000300: 2.321492e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544628249409198e-5
allele num: 66012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
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South Asian
type: Population
allele count: 4
allele frequency: 2.433978337592795e-4
allele num: 16434
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

DP
type: SiteQuality
SIO_000300: 2.318215e6

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 21506
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519341213649761e-5
allele num: 65818
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 6.107e0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 2.303254e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

GenotypeQuality
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GenotypeQuality
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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: 1215
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
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allele num: 898
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South Asian
type: Population
allele count: 0
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allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.96811651249754e-4
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.080321040950962e-5
allele num: 65786
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.306e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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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: 375
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.04062271953296e-5
allele num: 65776
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

DP
type: SiteQuality
SIO_000300: 2.299498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-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
all individuals: 856
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GenotypeQuality
all individuals: 21508
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4930
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.299498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 1.544e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
all individuals: 704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.053e0

QD
type: SiteQuality
SIO_000300: 1.733e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

DP
type: SiteQuality
SIO_000300: 2.051242e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.054073e6

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e0

FS
type: SiteQuality
SIO_000300: 3.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.735e1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9356
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8082
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.054938e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.299e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.084e0

QD
type: SiteQuality
SIO_000300: 1.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34529
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.395802098950524e-4
allele num: 66700
num of homozygotes: 1

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

Latino
type: Population
allele count: 14
allele frequency: 1.212121212121212e-3
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.056155e6

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 6.96e-1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 9.215e0

DP
type: SiteQuality
SIO_000300: 2.056416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 9.215e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 2.056416e6

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9345
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 1.999272991639404e-3
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 1.419e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 2.057535e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.221e0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.624e0

DP
type: SiteQuality
SIO_000300: 2.056947e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.013e1

VQSLOD
type: SiteQuality
SIO_000300: -2.419e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 34842
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 8114
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variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.115e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.493e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.02e0

DP
type: SiteQuality
SIO_000300: 2.058337e6

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

FS
type: SiteQuality
SIO_000300: 3.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.058347e6

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

DP
type: SiteQuality
SIO_000300: 2.058419e6

FS
type: SiteQuality
SIO_000300: 1.601e0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9317
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 1.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 2.058711e6

GenotypeQuality
all individuals: 9310
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.058884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.3301e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 3.182e1

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
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: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.602e0

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 2.058868e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.058858e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 685
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8116
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.058794e6

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 5.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 2.058891e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.311e0

QD
type: SiteQuality
SIO_000300: 1.048e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 684
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.415e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 2.503e0

QD
type: SiteQuality
SIO_000300: 1.499e1

DP
type: SiteQuality
SIO_000300: 2.058734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.991e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9300
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.058183e6

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 8036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
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GenotypeQuality
all individuals: 9207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461539e-4
allele num: 6500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

VQSLOD
type: SiteQuality
SIO_000300: -8.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 3.6847e1

DP
type: SiteQuality
SIO_000300: 2.056158e6

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 788
bin: 9.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 8.25e1
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GenotypeQuality
all individuals: 9248
bin: 9.75e1
variant carriers: 9

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.054514e6

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.658e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 9231
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variant carriers: 1

GenotypeQuality
all individuals: 8089
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.698e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 2.053772e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.553e0

VQSLOD
type: SiteQuality
SIO_000300: -4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35056
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 6608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 1.9073e1

QD
type: SiteQuality
SIO_000300: 1.419e1

DP
type: SiteQuality
SIO_000300: 2.053535e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 8074
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 1479
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variant carriers: 0

GenotypeQuality
all individuals: 2695
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variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

DP
type: SiteQuality
SIO_000300: 2.054027e6

GenotypeQuality
all individuals: 663
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9219
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variant carriers: 5

GenotypeQuality
all individuals: 35095
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 2436
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 8074
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.053333e6

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 8019
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variant carriers: 0

GenotypeQuality
all individuals: 2679
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variant carriers: 0

GenotypeQuality
all individuals: 35144
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.067961165048543e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 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: 8630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 2.052241e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.833e0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 1461
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 41
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9207
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
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: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.634994206257242e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.722e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 2.051686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 2403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8005
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GenotypeQuality
all individuals: 9203
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 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: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.050463e6

MQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.961e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-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
all individuals: 29
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GenotypeQuality
all individuals: 9202
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 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: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.049905e6

MQ
type: SiteQuality
SIO_000300: 5.91e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.361e0

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
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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
all individuals: 769
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GenotypeQuality
all individuals: 91
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
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: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

DP
type: SiteQuality
SIO_000300: 2.039936e6

QD
type: SiteQuality
SIO_000300: 1.11e1