2-238305447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305447
    reference: chr 2
allele count: 7
allele frequency: 5.775482252768106e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.14G>A
  hgvsp: ENSP00000375860.2:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.14G>A
  hgvsp: ENSP00000315873.4:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.14G>A
  hgvsp: ENSP00000315609.3:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.14G>A
  hgvsp: ENSP00000418285.1:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.14G>A
  hgvsp: ENSP00000295550.4:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.14G>A
  hgvsp: ENSP00000386844.1:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.14G>A
  hgvsp: ENSP00000389539.1:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.14G>A
  hgvsp: ENSP00000375861.3:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.14G>A
  hgvsp: ENSP00000295546.4:p.Arg5Gln
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg5Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-238305448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305448
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.13C>T
  hgvsp: ENSP00000315873.4:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.13C>T
  hgvsp: ENSP00000389539.1:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.13C>T
  hgvsp: ENSP00000386844.1:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.13C>T
  hgvsp: ENSP00000418285.1:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.13C>T
  hgvsp: ENSP00000375861.3:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.13C>T
  hgvsp: ENSP00000295550.4:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.13C>T
  hgvsp: ENSP00000315609.3:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.13C>T
  hgvsp: ENSP00000375860.2:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.13C>T
  hgvsp: ENSP00000295546.4:p.Arg5Trp
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg5Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

2-238305448-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305448
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.13C>A
  hgvsp: ENST00000392004.3:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.13C>A
  hgvsp: ENST00000409809.1:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.13C>A
  hgvsp: ENST00000433762.1:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.13C>A
  hgvsp: ENST00000295550.4:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.13C>A
  hgvsp: ENST00000472056.1:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.13C>A
  hgvsp: ENST00000392003.2:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.13C>A
  hgvsp: ENST00000353578.4:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.13C>A
  hgvsp: ENST00000347401.3:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.13C>A
  hgvsp: ENST00000346358.4:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg5Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-238305450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305450
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.11A>G
  hgvsp: ENSP00000375861.3:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.11A>G
  hgvsp: ENSP00000315873.4:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.11A>G
  hgvsp: ENSP00000295546.4:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.11A>G
  hgvsp: ENSP00000386844.1:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.11A>G
  hgvsp: ENSP00000418285.1:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.11A>G
  hgvsp: ENSP00000389539.1:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.11A>G
  hgvsp: ENSP00000315609.3:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.11A>G
  hgvsp: ENSP00000295550.4:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.11A>G
  hgvsp: ENSP00000375860.2:p.His4Arg
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His4Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-238305451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305451
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.10C>T
  hgvsp: ENSP00000389539.1:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.10C>T
  hgvsp: ENSP00000386844.1:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.10C>T
  hgvsp: ENSP00000315609.3:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.10C>T
  hgvsp: ENSP00000315873.4:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.10C>T
  hgvsp: ENSP00000418285.1:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.10C>T
  hgvsp: ENSP00000295546.4:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.10C>T
  hgvsp: ENSP00000375861.3:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.10C>T
  hgvsp: ENSP00000295550.4:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.10C>T
  hgvsp: ENSP00000375860.2:p.His4Tyr
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His4Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-238305456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305456
    reference: chr 2
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000386844
  ensembl transcript: ENST00000409809
  gene symbol: COL6A3
  hgvsc: ENST00000409809.1:c.5G>A
  hgvsp: ENSP00000386844.1:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.5G>A
  hgvsp: ENSP00000315609.3:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.5G>A
  hgvsp: ENSP00000315873.4:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.5G>A
  hgvsp: ENSP00000389539.1:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.5G>A
  hgvsp: ENSP00000375860.2:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.5G>A
  hgvsp: ENSP00000418285.1:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.5G>A
  hgvsp: ENSP00000375861.3:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.5G>A
  hgvsp: ENSP00000295546.4:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.5G>A
  hgvsp: ENSP00000295550.4:p.Arg2Lys
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11132
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg2Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238305466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305466
    reference: chr 2
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-6T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

2-238305467-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305467
    reference: chr 2
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-7A>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-238305472-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305472
    reference: chr 2
allele count: 1
allele frequency: 8.352125615969264e-6
allele num: 119730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-12G>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-238305474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305474
    reference: chr 2
allele count: 3
allele frequency: 2.507061556718089e-5
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-14T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-238305477-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305477
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305477
    reference: chr 2
allele count: 1
allele frequency: 8.390247176681825e-6
allele num: 119186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-238305478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305478
    reference: chr 2
allele count: 1
allele frequency: 8.404773911581778e-6
allele num: 118980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-18T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-238305496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305496
    reference: chr 2
allele count: 2
allele frequency: 1.702881275117499e-5
allele num: 117448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-30-6T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11064
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-30-6T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-238305499-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305498
    reference: chr 2
allele count: 1
allele frequency: 8.544379507160189e-6
allele num: 117036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-30-10delT
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: GA
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-238305505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305505
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305505
    reference: chr 2
allele count: 1
allele frequency: 8.632894782278393e-6
allele num: 115836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-30-15T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-238305508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305508
    reference: chr 2
allele count: 1
allele frequency: 8.687191604698033e-6
allele num: 115112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-30-18C>T
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

2-238305511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238305511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238305511
    reference: chr 2
allele count: 1
allele frequency: 8.727069624561465e-6
allele num: 114586
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295550
  ensembl transcript: ENST00000295550
  gene symbol: COL6A3
  hgvsc: ENST00000295550.4:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000418285
  ensembl transcript: ENST00000472056
  gene symbol: COL6A3
  hgvsc: ENST00000472056.1:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375861
  ensembl transcript: ENST00000392004
  gene symbol: COL6A3
  hgvsc: ENST00000392004.3:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000389539
  ensembl transcript: ENST00000433762
  gene symbol: COL6A3
  hgvsc: ENST00000433762.1:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000295546
  ensembl transcript: ENST00000346358
  gene symbol: COL6A3
  hgvsc: ENST00000346358.4:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315609
  ensembl transcript: ENST00000347401
  gene symbol: COL6A3
  hgvsc: ENST00000347401.3:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000375860
  ensembl transcript: ENST00000392003
  gene symbol: COL6A3
  hgvsc: ENST00000392003.2:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163359
  ensembl protein: ENSP00000315873
  ensembl transcript: ENST00000353578
  gene symbol: COL6A3
  hgvsc: ENST00000353578.4:c.-30-21T>C
  variant of: http://identifiers.org/hgnc/2213
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-238330173-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330173
    reference: chr 2
allele count: 2
allele frequency: 4.15973377703827e-4
allele num: 4808
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.*10T>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 50
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 730
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 570
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-238330198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330198
    reference: chr 2
allele count: 1
allele frequency: 1.559575795383656e-4
allele num: 6412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.306C>T
  hgvsp: ENST00000409162.1:c.306C>T(p.%3D)
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys102Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1312
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 680
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-238330202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330202
    reference: chr 2
allele count: 19
allele frequency: 2.707324023938444e-3
allele num: 7018
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.302A>G
  hgvsp: ENSP00000387024.1:p.Gln101Arg
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln101Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 226
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 704
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-238330215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330215
    reference: chr 2
allele count: 79
allele frequency: 8.932609678878335e-3
allele num: 8844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.289A>G
  hgvsp: ENSP00000387024.1:p.Thr97Ala
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr97Ala
num of homozygotes: 2
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 108
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 65
  allele frequency: 2.215405589638719e-2
  allele num: 2934
  num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-238330217-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330218
    reference: chr 2
allele count: 1
allele frequency: 1.096250822188117e-4
allele num: 9122
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.286dupC
  hgvsp: ENSP00000387024.1:p.His96ProfsTer11
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His96ProfsTer11
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.210653753026634e-3
  allele num: 826
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 110
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-238330226-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330226
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330226
    reference: chr 2
allele count: 1
allele frequency: 9.476876421531463e-5
allele num: 10552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.278G>C
  hgvsp: ENSP00000387024.1:p.Gly93Ala
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly93Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.516356316054353e-4
  allele num: 3974
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 120
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-238330245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330245
    reference: chr 2
allele count: 1
allele frequency: 7.304601899196493e-5
allele num: 13690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.259C>T
  hgvsp: ENSP00000387024.1:p.Pro87Ser
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro87Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.112378538234052e-4
  allele num: 4734
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-238330250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330250
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330250
    reference: chr 2
allele count: 1
allele frequency: 7.015574575557738e-5
allele num: 14254
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.254C>T
  hgvsp: ENSP00000387024.1:p.Ala85Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala85Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 484
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-238330260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330260
    reference: chr 2
allele count: 3
allele frequency: 2.006688963210702e-4
allele num: 14950
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.244T>C
  hgvsp: ENSP00000387024.1:p.Phe82Leu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe82Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 484
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7172
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

2-238330264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330264
    reference: chr 2
allele count: 1
allele frequency: 6.612881893929374e-5
allele num: 15122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.240C>T
  hgvsp: ENST00000409162.1:c.240C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala80Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 170
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5040
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

2-238330273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330273
    reference: chr 2
allele count: 66
allele frequency: 4.315417810906237e-3
allele num: 15294
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.231G>C
  hgvsp: ENSP00000387024.1:p.Glu77Asp
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu77Asp
num of homozygotes: 5
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.975503753457131e-4
  allele num: 5062
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.348072256672958e-4
  allele num: 7418
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-238330291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330291
    reference: chr 2
allele count: 1
allele frequency: 6.441638752898738e-5
allele num: 15524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.213C>T
  hgvsp: ENST00000409162.1:c.213C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5727
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val71Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 482
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5104
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-238330306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330306
    reference: chr 2
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.198C>T
  hgvsp: ENST00000409162.1:c.198C>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser66Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 862
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 284
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

2-238330355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330355
    reference: chr 2
allele count: 18
allele frequency: 1.120238984316654e-3
allele num: 16068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.149C>T
  hgvsp: ENSP00000387024.1:p.Ser50Phe
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1833
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Ser50Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1506
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 476
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-238330363-CGCCCTCACTTCCACCTGGCAGGAAGCCCTGAGGAACGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330325
    reference: chr 2
allele count: 2
allele frequency: 1.245795440388688e-4
allele num: 16054
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsp: ENSP00000387024.1:p.Thr35AlafsTer18
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 338
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 580
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Thr35AlafsTer18
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5128
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 818
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1530
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: CGCCCTCACTTCCACCTGGCAGGAAGCCCTGAGGAACGT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

2-238330370-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330370
    reference: chr 2
allele count: 2
allele frequency: 1.245485116452858e-4
allele num: 16058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.134T>A
  hgvsp: ENSP00000387024.1:p.Val45Glu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val45Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1556
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 812
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-238330373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330373
    reference: chr 2
allele count: 1
allele frequency: 6.225099601593625e-5
allele num: 16064
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.131A>G
  hgvsp: ENSP00000387024.1:p.Glu44Gly
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu44Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7628
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 200
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

2-238330374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330374
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330374
    reference: chr 2
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.130G>A
  hgvsp: ENSP00000387024.1:p.Glu44Lys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu44Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1572
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 268
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-238330389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330389
    reference: chr 2
allele count: 2
allele frequency: 1.2465719272002e-4
allele num: 16044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.115G>A
  hgvsp: ENSP00000387024.1:p.Ala39Thr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala39Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5108
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 462
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-238330417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330417
    reference: chr 2
allele count: 1
allele frequency: 6.325910931174089e-5
allele num: 15808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.87C>A
  hgvsp: ENST00000409162.1:c.87C>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile29Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 750
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7484
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

2-238330437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330437
    reference: chr 2
allele count: 1
allele frequency: 6.595435958316844e-5
allele num: 15162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.67G>A
  hgvsp: ENSP00000387024.1:p.Asp23Asn
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asp23Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.02020202020202e-4
  allele num: 4950
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 744
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-238330494-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330494
    reference: chr 2
allele count: 16
allele frequency: 1.572636131315117e-3
allele num: 10174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.21-11T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 128
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1636
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population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 408
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-238330519-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330519
    reference: chr 2
allele count: 1
allele frequency: 1.357588922074396e-4
allele num: 7366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.21-36C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 110
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population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2894
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population: Latino
  type: Population
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  allele num: 150
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population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-238330520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330520
    reference: chr 2
allele count: 1
allele frequency: 1.356116083536751e-4
allele num: 7374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.21-37C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 574
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1638
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 150
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-238330721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330721
    reference: chr 2
allele count: 1
allele frequency: 2.431906614785992e-4
allele num: 4112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.20+47C>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 354
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2392
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 160
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-238330722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330722
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 4110
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.20+46C>T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 354
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2390
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 160
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

2-238330786-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330786
    reference: chr 2
allele count: 1
allele frequency: 2.453385672227674e-4
allele num: 4076
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.2T>C
  hgvsp: ENSP00000387024.1:p.Met1?
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 184
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 200
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 4.194630872483221e-4
  allele num: 2384
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-238330833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238330833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238330833
    reference: chr 2
allele count: 4
allele frequency: 9.960159362549801e-4
allele num: 4016
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000222022
  ensembl protein: ENSP00000387024
  ensembl transcript: ENST00000409162
  gene symbol: AC112721.1
  hgvsc: ENST00000409162.1:c.-46T>C
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 147
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 38
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 1.264755480607083e-3
  allele num: 2372
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 5.0e-3
  allele num: 200
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-238402023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402023
    reference: chr 2
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.188-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.188-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.164-23C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-24-23C>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-238402034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402034
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.164-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.188-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.188-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-24-12G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-238402035-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402036
    reference: chr 2
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.188-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.188-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.164-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-24-10dupG
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-238402040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402040
    reference: chr 2
allele count: 13
allele frequency: 1.07073435904194e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.188-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.188-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-24-6T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.164-6T>C
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: c.-24-6T>C
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-238402041-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402041
    reference: chr 2
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.188-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.188-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.164-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-24-5T>G
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-24-5T>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-238402048-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402048
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.190G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.190G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.166G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-22G>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-22G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-238402055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402055
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.173C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.197C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.197C>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27266
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-238402056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402056
    reference: chr 2
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.198G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.174G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.198G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-238402074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402074
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.216G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.5G>A
  hgvsp: ENSP00000403909.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.5G>A
  hgvsp: ENSP00000414849.2:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.216G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.5G>A
  hgvsp: ENSP00000341845.4:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.5G>A
  hgvsp: ENSP00000409170.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.5G>A
  hgvsp: ENSP00000386780.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.192G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.5G>A
  hgvsp: ENSP00000386338.1:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.5G>A
  hgvsp: ENSP00000264605.3:p.Gly2Glu
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly2Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-238402091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402091
    reference: chr 2
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.22T>C
  hgvsp: ENSP00000386338.1:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.209T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.22T>C
  hgvsp: ENSP00000386780.1:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.22T>C
  hgvsp: ENSP00000264605.3:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.22T>C
  hgvsp: ENSP00000403909.1:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.22T>C
  hgvsp: ENSP00000341845.4:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.22T>C
  hgvsp: ENSP00000414849.2:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.233T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.22T>C
  hgvsp: ENSP00000409170.1:p.Ser8Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.233T>C
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser8Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

2-238402108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402108
    reference: chr 2
allele count: 177
allele frequency: 1.457846011926333e-3
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.39A>G
  hgvsp: ENST00000445024.2:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.39A>G
  hgvsp: ENST00000410032.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.250A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.250A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.39A>G
  hgvsp: ENST00000409373.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.39A>G
  hgvsp: ENST00000429898.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.226A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.39A>G
  hgvsp: ENST00000422695.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.39A>G
  hgvsp: ENST00000264605.3:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.39A>G
  hgvsp: ENST00000338530.4:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 10290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu13Glu
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-238402112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402112
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402112
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.230G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.43G>A
  hgvsp: ENSP00000386780.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.43G>A
  hgvsp: ENSP00000264605.3:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.43G>A
  hgvsp: ENSP00000403909.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.43G>A
  hgvsp: ENSP00000386338.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.43G>A
  hgvsp: ENSP00000341845.4:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.43G>A
  hgvsp: ENSP00000414849.2:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.254G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.43G>A
  hgvsp: ENSP00000409170.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.254G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10331
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala15Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238402125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402125
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.56T>C
  hgvsp: ENSP00000341845.4:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.56T>C
  hgvsp: ENSP00000264605.3:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.56T>C
  hgvsp: ENSP00000409170.1:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.267T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.56T>C
  hgvsp: ENSP00000403909.1:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.267T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.56T>C
  hgvsp: ENSP00000414849.2:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.56T>C
  hgvsp: ENSP00000386780.1:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.243T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.56T>C
  hgvsp: ENSP00000386338.1:p.Leu19Ser
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu19Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-238402139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402139
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402139
    reference: chr 2
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.257C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.70C>T
  hgvsp: ENSP00000414849.2:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.70C>T
  hgvsp: ENSP00000409170.1:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.70C>T
  hgvsp: ENSP00000403909.1:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.70C>T
  hgvsp: ENSP00000341845.4:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.70C>T
  hgvsp: ENSP00000264605.3:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.70C>T
  hgvsp: ENSP00000386338.1:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.281C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.281C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.70C>T
  hgvsp: ENSP00000386780.1:p.Arg24Ter
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27159
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg24Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum

2-238402140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402140
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402140
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.71G>A
  hgvsp: ENSP00000409170.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.71G>A
  hgvsp: ENSP00000386338.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.282G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.282G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.71G>A
  hgvsp: ENSP00000403909.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.71G>A
  hgvsp: ENSP00000341845.4:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.258G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.71G>A
  hgvsp: ENSP00000386780.1:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.71G>A
  hgvsp: ENSP00000414849.2:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.71G>A
  hgvsp: ENSP00000264605.3:p.Arg24Gln
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg24Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

2-238402143-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402144
    reference: chr 2
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.78dupT
  hgvsp: ENSP00000341845.4:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.265dupT
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.289dupT
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.78dupT
  hgvsp: ENSP00000414849.2:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.78dupT
  hgvsp: ENSP00000264605.3:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.78dupT
  hgvsp: ENSP00000386338.1:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.78dupT
  hgvsp: ENSP00000403909.1:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.78dupT
  hgvsp: ENSP00000386780.1:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.78dupT
  hgvsp: ENSP00000409170.1:p.Asp27Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.289dupT
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp27Ter
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-238402152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402152
    reference: chr 2
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.83T>C
  hgvsp: ENSP00000264605.3:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.83T>C
  hgvsp: ENSP00000409170.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.83T>C
  hgvsp: ENSP00000386338.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.83T>C
  hgvsp: ENSP00000341845.4:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.294T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.83T>C
  hgvsp: ENSP00000403909.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.83T>C
  hgvsp: ENSP00000386780.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.270T>C
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.83T>C
  hgvsp: ENSP00000414849.2:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.294T>C
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu28Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-238402154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402154
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.85C>T
  hgvsp: ENSP00000403909.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.85C>T
  hgvsp: ENSP00000341845.4:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.272C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.85C>T
  hgvsp: ENSP00000386780.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.85C>T
  hgvsp: ENSP00000386338.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.296C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.85C>T
  hgvsp: ENSP00000414849.2:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.85C>T
  hgvsp: ENSP00000264605.3:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.85C>T
  hgvsp: ENSP00000409170.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.296C>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg29Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

2-238402155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402155
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402155
    reference: chr 2
allele count: 8
allele frequency: 6.590111537637774e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.86G>A
  hgvsp: ENSP00000386780.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.273G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.86G>A
  hgvsp: ENSP00000409170.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.86G>A
  hgvsp: ENSP00000341845.4:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.86G>A
  hgvsp: ENSP00000403909.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.86G>A
  hgvsp: ENSP00000386338.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.86G>A
  hgvsp: ENSP00000414849.2:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.86G>A
  hgvsp: ENSP00000264605.3:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.297G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.297G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg29Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-238402158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402158
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.300G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.89G>A
  hgvsp: ENSP00000414849.2:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.89G>A
  hgvsp: ENSP00000386338.1:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.89G>A
  hgvsp: ENSP00000409170.1:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.89G>A
  hgvsp: ENSP00000341845.4:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.276G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.89G>A
  hgvsp: ENSP00000386780.1:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.89G>A
  hgvsp: ENSP00000403909.1:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.89G>A
  hgvsp: ENSP00000264605.3:p.Arg30Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.300G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg30Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-238402166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402166
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402166
    reference: chr 2
allele count: 14
allele frequency: 1.153440548378592e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.97G>A
  hgvsp: ENSP00000386338.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.308G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.97G>A
  hgvsp: ENSP00000409170.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.97G>A
  hgvsp: ENSP00000341845.4:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.97G>A
  hgvsp: ENSP00000403909.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.284G>A
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.97G>A
  hgvsp: ENSP00000264605.3:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.97G>A
  hgvsp: ENSP00000386780.1:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.97G>A
  hgvsp: ENSP00000414849.2:p.Glu33Lys
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.308G>A
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10304
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu33Lys
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: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-238402167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402167
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.98A>G
  hgvsp: ENSP00000341845.4:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.309A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.98A>G
  hgvsp: ENSP00000386338.1:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.309A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.98A>G
  hgvsp: ENSP00000414849.2:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.98A>G
  hgvsp: ENSP00000386780.1:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.98A>G
  hgvsp: ENSP00000409170.1:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.98A>G
  hgvsp: ENSP00000403909.1:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.98A>G
  hgvsp: ENSP00000264605.3:p.Glu33Gly
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.285A>G
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu33Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-238402172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402172
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.314C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.103C>T
  hgvsp: ENSP00000341845.4:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.103C>T
  hgvsp: ENSP00000386780.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.290C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.103C>T
  hgvsp: ENSP00000409170.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.103C>T
  hgvsp: ENSP00000414849.2:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.103C>T
  hgvsp: ENSP00000264605.3:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.314C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.103C>T
  hgvsp: ENSP00000386338.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.103C>T
  hgvsp: ENSP00000403909.1:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Trp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-238402177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402177
    reference: chr 2
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.108A>G
  hgvsp: ENST00000422695.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.108A>G
  hgvsp: ENST00000338530.4:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.108A>G
  hgvsp: ENST00000445024.2:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.319A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.108A>G
  hgvsp: ENST00000409373.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.108A>G
  hgvsp: ENST00000264605.3:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.108A>G
  hgvsp: ENST00000410032.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.295A>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.108A>G
  hgvsp: ENST00000429898.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.319A>G
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.108A>G
num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-238402177-AGAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402173
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.321+4_321+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.110+4_110+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.297+4_297+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.321+4_321+7delAGTG
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
hgvs: c.110+4_110+7delAGTG
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: AGAGT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-238402189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402189
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402189
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.321+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.297+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.321+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.110+10C>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-238402190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402190
    reference: chr 2
allele count: 4
allele frequency: 3.298044259753966e-5
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.297+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.321+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.321+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.110+11C>G
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-238402190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 238402190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 238402190
    reference: chr 2
allele count: 31
allele frequency: 2.555984301309323e-4
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000264605
  ensembl transcript: ENST00000264605
  gene symbol: MLPH
  hgvsc: ENST00000264605.3:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000414849
  ensembl transcript: ENST00000445024
  gene symbol: MLPH
  hgvsc: ENST00000445024.2:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386780
  ensembl transcript: ENST00000409373
  gene symbol: MLPH
  hgvsc: ENST00000409373.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000409170
  ensembl transcript: ENST00000422695
  gene symbol: MLPH
  hgvsc: ENST00000422695.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000468178
  gene symbol: MLPH
  hgvsc: ENST00000468178.1:n.321+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000386338
  ensembl transcript: ENST00000410032
  gene symbol: MLPH
  hgvsc: ENST00000410032.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000469619
  gene symbol: MLPH
  hgvsc: ENST00000469619.1:n.297+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000341845
  ensembl transcript: ENST00000338530
  gene symbol: MLPH
  hgvsc: ENST00000338530.4:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl protein: ENSP00000403909
  ensembl transcript: ENST00000429898
  gene symbol: MLPH
  hgvsc: ENST00000429898.1:c.110+11C>T
  variant of: http://identifiers.org/hgnc/29643
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115648
  ensembl transcript: ENST00000477222
  gene symbol: MLPH
  hgvsc: ENST00000477222.1:n.321+11C>T
  variant of: http://identifiers.org/hgnc/29643
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

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

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

GenotypeQuality
all individuals: 219
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1099
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11150
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 740
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
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: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

DP
type: SiteQuality
SIO_000300: 2.232573e6

GenotypeQuality
all individuals: 31681
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.25e1
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: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

DP
type: SiteQuality
SIO_000300: 2.231614e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 5.655e0

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

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

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8647
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11140
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variant carriers: 1

GenotypeQuality
all individuals: 24
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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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: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.655e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 2.231614e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

European (Finnish)
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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: 66596
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 2.229138e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ClippingRankSum
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SIO_000300: 3.27e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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: 11528
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.048e0

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

InbreedingCoeff
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SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.795e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.983e0

ReadPosRankSum
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SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.228965e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
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: 8560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.798e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

FS
type: SiteQuality
SIO_000300: 1.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.223173e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.203327e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 2.054e0

QD
type: SiteQuality
SIO_000300: 1.458e1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
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South Asian
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allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

African
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.792e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.565793078257694e-5
allele num: 65706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.084e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 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: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65410
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65300
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
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South Asian
type: Population
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allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
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FS
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

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

South Asian
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allele count: 1
allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.994423457456377e-5
allele num: 11118
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64338
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
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
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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Latino
type: Population
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10202
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64088
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7952
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South Asian
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allele count: 1
allele frequency: 6.130456105934282e-5
allele num: 16312
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VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.759e1

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

FS
type: SiteQuality
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DP
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SIO_000300: 1.947881e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.481e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63318
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.159152500615915e-5
allele num: 16236
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 5.692e1

QD
type: SiteQuality
SIO_000300: 8.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.888052e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.183527083848628e-5
allele num: 16172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62884
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.652e0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.696e0

DP
type: SiteQuality
SIO_000300: 1.876681e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.198859409868585e-5
allele num: 16132
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62550
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Other
type: Population
allele count: 0
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allele num: 868
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.616e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.525e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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Latino
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South Asian
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

European (Non-Finnish)
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allele num: 2944
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East Asian
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African
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Latino
type: Population
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.234152652005175e-4
allele num: 3092
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African
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allele count: 18
allele frequency: 2.319587628865979e-2
allele num: 776
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Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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DP
type: SiteQuality
SIO_000300: 1.25034e5

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

European (Finnish)
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allele frequency: 0.0e0
allele num: 768
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European (Non-Finnish)
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allele count: 11
allele frequency: 3.130335799658509e-3
allele num: 3514
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East Asian
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African
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allele frequency: 1.219512195121951e-3
allele num: 820
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Latino
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allele frequency: 8.403361344537815e-3
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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DP
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.401e1

Latino
type: Population
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East Asian
type: Population
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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South Asian
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East Asian
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African
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.705e-1

DP
type: SiteQuality
SIO_000300: 1.8005e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 7.03e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.498351813005694e-4
allele num: 6674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.86814e5

FS
type: SiteQuality
SIO_000300: 5.653e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

QD
type: SiteQuality
SIO_000300: 1.44e1

European (Finnish)
type: Population
allele count: 2
allele frequency: 2.132196162046908e-3
allele num: 938
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.0e-4
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 1.93101e5

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 5.58e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

South Asian
type: Population
allele count: 1
allele frequency: 1.371365880416895e-4
allele num: 7292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

FS
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
type: SiteQuality
SIO_000300: 1.9511e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

African
type: Population
allele count: 63
allele frequency: 7.000000000000001e-2
allele num: 900
num of homozygotes: 5

Latino
type: Population
allele count: 1
allele frequency: 3.496503496503497e-3
allele num: 286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.99016e5

FS
type: SiteQuality
SIO_000300: 1.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.622e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 1
allele frequency: 1.33155792276964e-4
allele num: 7510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.775e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.98038e5

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

South Asian
type: Population
allele count: 1
allele frequency: 1.323101349563376e-4
allele num: 7558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.99488e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.186e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 8.747999999999999e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 2.095886822111606e-3
allele num: 7634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.950495049504951e-3
allele num: 202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 3.226e0

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.07037e5

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.620545073375262e-4
allele num: 7632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.828e0

QD
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -7.000999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.761e1

DP
type: SiteQuality
SIO_000300: 2.06869e5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.622606871230003e-4
allele num: 7626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.07821e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

FS
type: SiteQuality
SIO_000300: 4.757e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.087e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.95160031225605e-4
allele num: 5124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

FS
type: SiteQuality
SIO_000300: 1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 2.08099e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.327e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

FS
type: SiteQuality
SIO_000300: 2.95e0

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 2.08235e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.627430373095113e-4
allele num: 7612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

DP
type: SiteQuality
SIO_000300: 2.08777e5

FS
type: SiteQuality
SIO_000300: 7.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.446e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.49e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.971608832807571e-4
allele num: 5072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

DP
type: SiteQuality
SIO_000300: 2.06018e5

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.841e0

QD
type: SiteQuality
SIO_000300: 2.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 6.204e0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.97531e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.605863192182411e-2
allele num: 614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.35353e5

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 1.274e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.754385964912281e-3
allele num: 570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.441e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.655e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

DP
type: SiteQuality
SIO_000300: 1.19095e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.462603878116343e-4
allele num: 2888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 1.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

DP
type: SiteQuality
SIO_000300: 1.19141e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 2.616e0

VQSLOD
type: SiteQuality
SIO_000300: -2.665e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.2724e4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 9.2651e4

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.86e-2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.465e0

VQSLOD
type: SiteQuality
SIO_000300: -2.313e0

DP
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SIO_000300: 9.2151e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.686e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

QD
type: SiteQuality
SIO_000300: 1.384e1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 722
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.203e0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.560000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 9.0799e4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.761e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 4
allele frequency: 3.843936190659235e-4
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
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 9.65e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 2.694038e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.238e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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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

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 6.337e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 2.694165e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.039e1

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 2.456e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 2.694136e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
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allele count: 13
allele frequency: 1.249279261964251e-3
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQRankSum
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SIO_000300: -4.5e-2

DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele num: 11578
num of homozygotes: 0

African
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allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Other
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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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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele num: 10406
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Other
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South Asian
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European (Non-Finnish)
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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QD
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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ReadPosRankSum
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VQSLOD
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DP
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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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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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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QD
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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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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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MQ
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QD
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SIO_000300: 1.154e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.689767e6

FS
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 66736
num of homozygotes: 0

European (Finnish)
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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: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 2.689436e6

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.17e-1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.256e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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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: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 1.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

DP
type: SiteQuality
SIO_000300: 2.689615e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
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: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.06e0

DP
type: SiteQuality
SIO_000300: 2.689195e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -8.394e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

African
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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: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.688991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.118e1

FS
type: SiteQuality
SIO_000300: 2.034e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
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
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQ
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 2.689346e6

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

DP
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BaseQRankSum
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SIO_000300: 2.37e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 14
allele frequency: 1.34667179684494e-3
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
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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: 6614
num of homozygotes: 0

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

South Asian
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allele count: 0
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allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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SIO_000300: 5.963e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 6614
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: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 5.151e0

DP
type: SiteQuality
SIO_000300: 2.687241e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 3.505e0

DP
type: SiteQuality
SIO_000300: 2.68674e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 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: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 2.685804e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.186e-1

FS
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 1.971e1

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
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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variant carriers: 0

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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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: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.186e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 2.685804e6

QD
type: SiteQuality
SIO_000300: 1.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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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
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
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DP
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SIO_000300: 2.682605e6

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
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: 8646
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: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.682933e6