16-86566054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566054
    reference: chr 16
allele count: 1
allele frequency: 8.082767539605561e-5
allele num: 12372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.712C>T
  hgvsp: ENST00000322911.6:c.712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.715C>T
  hgvsp: ENST00000381214.5:c.715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.226C>T
  hgvsp: ENST00000546093.1:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*520C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.712C>T
  hgvsp: ENST00000543303.2:c.712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.715C>T
  hgvsp: ENST00000360900.6:c.715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.605C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20716
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu239Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

16-86566059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566059
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.600C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.710C>T
  hgvsp: ENSP00000354152.6:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.707C>T
  hgvsp: ENSP00000444003.2:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.710C>T
  hgvsp: ENSP00000370612.5:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*515C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.221C>T
  hgvsp: ENSP00000438761.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.707C>T
  hgvsp: ENSP00000326777.6:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*217C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21237
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29984
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro237Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/16-86566062-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566062
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*214T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.707T>G
  hgvsp: ENSP00000370612.5:p.Ile236Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*512T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.218T>G
  hgvsp: ENSP00000438761.1:p.Ile73Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.704T>G
  hgvsp: ENSP00000444003.2:p.Ile235Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.704T>G
  hgvsp: ENSP00000326777.6:p.Ile235Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.707T>G
  hgvsp: ENSP00000354152.6:p.Ile236Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.597T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19887
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile236Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

16-86566069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566069
    reference: chr 16
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*207G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.700G>C
  hgvsp: ENSP00000370612.5:p.Glu234Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.700G>C
  hgvsp: ENSP00000354152.6:p.Glu234Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.211G>C
  hgvsp: ENSP00000438761.1:p.Glu71Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.697G>C
  hgvsp: ENSP00000326777.6:p.Glu233Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*505G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.697G>C
  hgvsp: ENSP00000444003.2:p.Glu233Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.590G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu234Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-86566075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566075
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566075
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 9462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*201A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.694A>G
  hgvsp: ENSP00000370612.5:p.Met232Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.205A>G
  hgvsp: ENSP00000438761.1:p.Met69Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.691A>G
  hgvsp: ENSP00000444003.2:p.Met231Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.691A>G
  hgvsp: ENSP00000326777.6:p.Met231Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*499A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.694A>G
  hgvsp: ENSP00000354152.6:p.Met232Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.584A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met232Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

16-86566112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566112
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566112
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 4696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*189-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.679-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.572-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.682-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.679-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.682-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.193-25G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*487-25G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-86566115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566115
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566115
    reference: chr 16
allele count: 294
allele frequency: 6.402439024390244e-2
allele num: 4592
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.682-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.572-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.682-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.193-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.679-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*189-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.679-28A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*487-28A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 7.5e0
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34793
  bin: 2.5e0
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 10
num of homozygotes: 7
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-86566128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566128
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566128
    reference: chr 16
allele count: 3
allele frequency: 8.917954815695601e-4
allele num: 3364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.679-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.679-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.572-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*487-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*189-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.682-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.193-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.682-41G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32174
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9529
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23075
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-86566137-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566137
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566137
    reference: chr 16
allele count: 21
allele frequency: 7.714915503306392e-3
allele num: 2722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*487-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.679-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.193-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.679-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.682-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.682-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.572-50T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*189-50T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 31213
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

16-86566138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86566138
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86566138
    reference: chr 16
allele count: 1
allele frequency: 2.421307506053269e-4
allele num: 4130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.682-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*487-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.679-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.679-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.682-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*189-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.572-51G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.193-51G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-86574766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86574766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86574766
    reference: chr 16
allele count: 2
allele frequency: 1.635322976287817e-4
allele num: 12230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.*30G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+537G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+537G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

16-86574769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86574769
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86574769
    reference: chr 16
allele count: 2
allele frequency: 1.635590448151783e-4
allele num: 12228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.*27G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+534G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+534G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

16-86574800-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86574800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86574800
    reference: chr 16
allele count: 1
allele frequency: 8.165931732810714e-5
allele num: 12246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.668G>C
  hgvsp: ENSP00000456652.2:p.Arg223Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+503G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+503G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg223Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

16-86574818-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86574818
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86574818
    reference: chr 16
allele count: 5473
allele frequency: 4.481657386177531e-1
allele num: 12212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.664-14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+485G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+485G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.75e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.25e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 463
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.5e0
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 21
num of homozygotes: 1279
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

16-86575228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575228
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575228
    reference: chr 16
allele count: 1
allele frequency: 3.353678985847475e-5
allele num: 29818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+75T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+75T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-86575241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575241
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575241
    reference: chr 16
allele count: 1
allele frequency: 3.09520861706079e-5
allele num: 32308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+62T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+62T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

16-86575249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575249
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575249
    reference: chr 16
allele count: 3
allele frequency: 8.628624022089277e-5
allele num: 34768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*15T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+54T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+54T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30526
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

16-86575254-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575254
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575254
    reference: chr 16
allele count: 3
allele frequency: 7.901390644753477e-5
allele num: 37968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+49C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+49C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

16-86575258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575258
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575258
    reference: chr 16
allele count: 1
allele frequency: 2.446303635207202e-5
allele num: 40878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+45C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+45C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

16-86575263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575263
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575263
    reference: chr 16
allele count: 1
allele frequency: 2.122691572914455e-5
allele num: 47110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+40C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+40C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/16-86575264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575264
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575264
    reference: chr 16
allele count: 2
allele frequency: 4.073485681697829e-5
allele num: 49098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.701G>T
  hgvsp: ENSP00000455940.1:p.Ter234TyrextTer6
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+39G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+39G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter234TyrextTer6
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

16-86575270-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575270
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575270
    reference: chr 16
allele count: 1
allele frequency: 1.781007337750231e-5
allele num: 56148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+33A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.695A>C
  hgvsp: ENST00000566469.1:c.695A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+33A>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15668
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val232Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-86575271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575271
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575271
    reference: chr 16
allele count: 1
allele frequency: 1.75530981218185e-5
allele num: 56970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.694T>C
  hgvsp: ENSP00000455940.1:p.Val232Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+32T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+32T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val232Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-86575271-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575271
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575271
    reference: chr 16
allele count: 13
allele frequency: 2.281902755836405e-4
allele num: 56970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.694T>A
  hgvsp: ENSP00000455940.1:p.Val232Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+32T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+32T>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val232Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-86575275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575275
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575275
    reference: chr 16
allele count: 5
allele frequency: 8.278693953241937e-5
allele num: 60396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.690C>T
  hgvsp: ENSP00000455940.1:p.Pro231Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+28C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+28C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28066
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Pro231Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

16-86575281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575281
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575281
    reference: chr 16
allele count: 501
allele frequency: 7.504268895479465e-3
allele num: 66762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.684C>T
  hgvsp: ENSP00000455940.1:p.Leu229Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+22C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+22C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25525
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 20278
  bin: 2.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Leu229Phe
num of homozygotes: 14
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-86575281-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575281
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575281
    reference: chr 16
allele count: 1
allele frequency: 1.497858062969953e-5
allele num: 66762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.684C>G
  hgvsp: ENSP00000455940.1:p.Leu229Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+22C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu229Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-86575282-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575282
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575282
    reference: chr 16
allele count: 1
allele frequency: 1.47627624081018e-5
allele num: 67738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.683G>C
  hgvsp: ENSP00000455940.1:p.Gln228His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+21G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+21G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24955
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln228His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-86575286-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575286
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575286
    reference: chr 16
allele count: 2
allele frequency: 2.778935667639294e-5
allele num: 71970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.679G>T
  hgvsp: ENSP00000455940.1:p.Gly227Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+17G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+17G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly227Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

16-86575289-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575289
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575289
    reference: chr 16
allele count: 1
allele frequency: 1.308934788868818e-5
allele num: 76398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.676G>C
  hgvsp: ENSP00000455940.1:p.Ser226Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+14G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+14G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser226Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

16-86575292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575292
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575292
    reference: chr 16
allele count: 4
allele frequency: 5.026135906714917e-5
allele num: 79584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.673G>A
  hgvsp: ENSP00000455940.1:p.Gly225Asp
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+11G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+11G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22978
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly225Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-86575293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575293
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575293
    reference: chr 16
allele count: 538
allele frequency: 6.628881222276984e-3
allele num: 81160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.672G>A
  hgvsp: ENSP00000455940.1:p.Gly225Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+10G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 18988
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25420
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 23896
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19260
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Gly225Ser
num of homozygotes: 15
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

16-86575294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575294
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575294
    reference: chr 16
allele count: 7
allele frequency: 8.423383312074319e-5
allele num: 83102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.671C>T
  hgvsp: ENST00000566469.1:c.671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+9C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+9C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His224His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

16-86575294-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575294
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575294
    reference: chr 16
allele count: 1
allele frequency: 1.203340473153474e-5
allele num: 83102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.671C>A
  hgvsp: ENSP00000455940.1:p.His224Gln
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+9C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+9C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His224Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-86575295-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575295
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575295
    reference: chr 16
allele count: 1
allele frequency: 1.187958849105467e-5
allele num: 84178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.670A>T
  hgvsp: ENSP00000455940.1:p.His224Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+8A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+8A>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His224Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-86575296-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575296
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575296
    reference: chr 16
allele count: 1
allele frequency: 1.169727453503334e-5
allele num: 85490
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.669C>A
  hgvsp: ENSP00000455940.1:p.His224Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+7C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+7C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His224Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-86575297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575297
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575297
    reference: chr 16
allele count: 1
allele frequency: 1.152764328860608e-5
allele num: 86748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.668T>G
  hgvsp: ENST00000566469.1:c.668T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+6T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
hgvs: c.681+6T>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-86575299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575299
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575299
    reference: chr 16
allele count: 1
allele frequency: 1.129688206055129e-5
allele num: 88520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.571+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.192+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*486+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.681+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.678+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.681+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.663+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.666G>C
  hgvsp: ENSP00000455940.1:p.Gly223Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.678+4G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*188+4G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly223Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-86575306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575306
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575306
    reference: chr 16
allele count: 1
allele frequency: 1.061300730174902e-5
allele num: 94224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.659C>T
  hgvsp: ENST00000566469.1:c.659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.675C>T
  hgvsp: ENST00000322911.6:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.678C>T
  hgvsp: ENST00000381214.5:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.568C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.678C>T
  hgvsp: ENST00000360900.6:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*483C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.660C>T
  hgvsp: ENST00000562940.2:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.675C>T
  hgvsp: ENST00000543303.2:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.189C>T
  hgvsp: ENST00000546093.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29046
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe226Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

16-86575315-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575315
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575315
    reference: chr 16
allele count: 1
allele frequency: 9.948862844976819e-6
allele num: 100514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.669C>A
  hgvsp: ENST00000381214.5:c.669C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*474C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.666C>A
  hgvsp: ENST00000543303.2:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.180C>A
  hgvsp: ENST00000546093.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.666C>A
  hgvsp: ENST00000322911.6:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.651C>A
  hgvsp: ENST00000562940.2:c.651C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.559C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.650C>A
  hgvsp: ENST00000566469.1:c.650C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.669C>A
  hgvsp: ENST00000360900.6:c.669C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*176C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile223Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-86575319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575319
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575319
    reference: chr 16
allele count: 1
allele frequency: 9.731981236740175e-6
allele num: 102754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.662G>A
  hgvsp: ENSP00000444003.2:p.Gly221Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.665G>A
  hgvsp: ENSP00000354152.6:p.Gly222Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.176G>A
  hgvsp: ENSP00000438761.1:p.Gly59Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.646G>A
  hgvsp: ENSP00000455940.1:p.Gly216Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.665G>A
  hgvsp: ENSP00000370612.5:p.Gly222Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.647G>A
  hgvsp: ENSP00000456652.2:p.Gly216Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.662G>A
  hgvsp: ENSP00000326777.6:p.Gly221Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*470G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.555G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly222Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-86575321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575321
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575321
    reference: chr 16
allele count: 3
allele frequency: 2.886058413822296e-5
allele num: 103948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.663G>A
  hgvsp: ENSP00000370612.5:p.Met221Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.660G>A
  hgvsp: ENSP00000326777.6:p.Met220Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.644G>A
  hgvsp: ENSP00000455940.1:p.Met215Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.645G>A
  hgvsp: ENSP00000456652.2:p.Met215Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.174G>A
  hgvsp: ENSP00000438761.1:p.Met58Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.660G>A
  hgvsp: ENSP00000444003.2:p.Met220Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.663G>A
  hgvsp: ENSP00000354152.6:p.Met221Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.553G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met221Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

16-86575323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575323
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575323
    reference: chr 16
allele count: 2
allele frequency: 1.905088491360424e-5
allele num: 104982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.643A>G
  hgvsp: ENSP00000456652.2:p.Met215Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.551A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.658A>G
  hgvsp: ENSP00000326777.6:p.Met220Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.661A>G
  hgvsp: ENSP00000354152.6:p.Met221Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.642A>G
  hgvsp: ENSP00000455940.1:p.Met215Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*466A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.661A>G
  hgvsp: ENSP00000370612.5:p.Met221Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.658A>G
  hgvsp: ENSP00000444003.2:p.Met220Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*168A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.172A>G
  hgvsp: ENSP00000438761.1:p.Met58Val
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met221Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

16-86575325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575325
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575325
    reference: chr 16
allele count: 1
allele frequency: 9.4459033117337e-6
allele num: 105866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.641C>T
  hgvsp: ENSP00000456652.2:p.Pro214Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.659C>T
  hgvsp: ENSP00000354152.6:p.Pro220Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.549C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.659C>T
  hgvsp: ENSP00000370612.5:p.Pro220Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.640C>T
  hgvsp: ENSP00000455940.1:p.Pro214Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.656C>T
  hgvsp: ENSP00000444003.2:p.Pro219Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.656C>T
  hgvsp: ENSP00000326777.6:p.Pro219Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.170C>T
  hgvsp: ENSP00000438761.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*464C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro220Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-86575326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575326
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575326
    reference: chr 16
allele count: 13
allele frequency: 1.224935926428464e-4
allele num: 106128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.548C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.655C>T
  hgvsp: ENSP00000444003.2:p.Pro219Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.169C>T
  hgvsp: ENSP00000438761.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.658C>T
  hgvsp: ENSP00000354152.6:p.Pro220Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.658C>T
  hgvsp: ENSP00000370612.5:p.Pro220Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.639C>T
  hgvsp: ENSP00000455940.1:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.655C>T
  hgvsp: ENSP00000326777.6:p.Pro219Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*463C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.640C>T
  hgvsp: ENSP00000456652.2:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*165C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34925
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro220Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-86575333-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575333
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575333
    reference: chr 16
allele count: 1
allele frequency: 9.216250092162501e-6
allele num: 108504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.648C>A
  hgvsp: ENST00000543303.2:c.648C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.648C>A
  hgvsp: ENST00000322911.6:c.648C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.633C>A
  hgvsp: ENST00000562940.2:c.633C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.632C>A
  hgvsp: ENST00000566469.1:c.632C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*158C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.162C>A
  hgvsp: ENST00000546093.1:c.162C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.651C>A
  hgvsp: ENST00000381214.5:c.651C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.541C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.651C>A
  hgvsp: ENST00000360900.6:c.651C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*456C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg217Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-86575334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575334
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575334
    reference: chr 16
allele count: 2
allele frequency: 1.840298864535601e-5
allele num: 108678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.647G>A
  hgvsp: ENSP00000444003.2:p.Arg216His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.161G>A
  hgvsp: ENSP00000438761.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*455G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.647G>A
  hgvsp: ENSP00000326777.6:p.Arg216His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.631G>A
  hgvsp: ENSP00000455940.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.632G>A
  hgvsp: ENSP00000456652.2:p.Arg211His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.650G>A
  hgvsp: ENSP00000370612.5:p.Arg217His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*157G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.540G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.650G>A
  hgvsp: ENSP00000354152.6:p.Arg217His
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg217His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-86575335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575335
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575335
    reference: chr 16
allele count: 3
allele frequency: 2.728364072901888e-5
allele num: 109956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.646C>T
  hgvsp: ENSP00000326777.6:p.Arg216Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.646C>T
  hgvsp: ENSP00000444003.2:p.Arg216Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.630C>T
  hgvsp: ENSP00000455940.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.649C>T
  hgvsp: ENSP00000370612.5:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.649C>T
  hgvsp: ENSP00000354152.6:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*454C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.160C>T
  hgvsp: ENSP00000438761.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*156C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.631C>T
  hgvsp: ENSP00000456652.2:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.539C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg217Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-86575339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575339
    reference: chr 16
allele count: 2
allele frequency: 1.791472590469366e-5
allele num: 111640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.642C>T
  hgvsp: ENST00000322911.6:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.627C>T
  hgvsp: ENST00000562940.2:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.645C>T
  hgvsp: ENST00000381214.5:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.645C>T
  hgvsp: ENST00000360900.6:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.642C>T
  hgvsp: ENST00000543303.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.156C>T
  hgvsp: ENST00000546093.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.626C>T
  hgvsp: ENST00000566469.1:c.626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*450C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.535C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys215Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-86575344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575344
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575344
    reference: chr 16
allele count: 4
allele frequency: 3.5184631353025e-5
allele num: 113686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.637G>C
  hgvsp: ENSP00000326777.6:p.Gly213Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*445G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*147G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.621G>C
  hgvsp: ENSP00000455940.1:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.640G>C
  hgvsp: ENSP00000370612.5:p.Gly214Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.640G>C
  hgvsp: ENSP00000354152.6:p.Gly214Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.637G>C
  hgvsp: ENSP00000444003.2:p.Gly213Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.530G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.151G>C
  hgvsp: ENSP00000438761.1:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.622G>C
  hgvsp: ENSP00000456652.2:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly214Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-86575353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575353
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575353
    reference: chr 16
allele count: 2
allele frequency: 1.718006425344031e-5
allele num: 116414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.142A>G
  hgvsp: ENSP00000438761.1:p.Ile48Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.628A>G
  hgvsp: ENSP00000326777.6:p.Ile210Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.628A>G
  hgvsp: ENSP00000444003.2:p.Ile210Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.521A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.514A>G
  hgvsp: ENSP00000454807.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.613A>G
  hgvsp: ENSP00000456652.2:p.Ile205Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*436A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.631A>G
  hgvsp: ENSP00000354152.6:p.Ile211Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.612A>G
  hgvsp: ENSP00000455940.1:p.Ile205Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*138A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.631A>G
  hgvsp: ENSP00000370612.5:p.Ile211Val
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile211Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-86575362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575362
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575362
    reference: chr 16
allele count: 1
allele frequency: 8.483491126268282e-6
allele num: 117876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.619A>G
  hgvsp: ENSP00000444003.2:p.Thr207Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.604A>G
  hgvsp: ENSP00000456652.2:p.Thr202Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.622A>G
  hgvsp: ENSP00000354152.6:p.Thr208Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.619A>G
  hgvsp: ENSP00000326777.6:p.Thr207Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*427A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.133A>G
  hgvsp: ENSP00000438761.1:p.Thr45Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.505A>G
  hgvsp: ENSP00000454807.1:p.Thr169Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.622A>G
  hgvsp: ENSP00000370612.5:p.Thr208Ala
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.512A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.603A>G
  hgvsp: ENSP00000455940.1:p.Thr202Ala
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr208Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

16-86575364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575364
    reference: chr 16
allele count: 1
allele frequency: 8.466540232999188e-6
allele num: 118112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.602C>T
  hgvsp: ENSP00000456652.2:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.131C>T
  hgvsp: ENSP00000438761.1:p.Pro44Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.601C>T
  hgvsp: ENSP00000455940.1:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.620C>T
  hgvsp: ENSP00000370612.5:p.Pro207Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.617C>T
  hgvsp: ENSP00000326777.6:p.Pro206Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.503C>T
  hgvsp: ENSP00000454807.1:p.Pro168Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.510C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.617C>T
  hgvsp: ENSP00000444003.2:p.Pro206Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.620C>T
  hgvsp: ENSP00000354152.6:p.Pro207Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro207Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ

16-86575370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575370
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575370
    reference: chr 16
allele count: 5
allele frequency: 4.212938777573684e-5
allele num: 118682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.497T>C
  hgvsp: ENSP00000454807.1:p.Leu166Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.614T>C
  hgvsp: ENSP00000370612.5:p.Leu205Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.614T>C
  hgvsp: ENSP00000354152.6:p.Leu205Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.611T>C
  hgvsp: ENSP00000326777.6:p.Leu204Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.596T>C
  hgvsp: ENSP00000456652.2:p.Leu199Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.504T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.125T>C
  hgvsp: ENSP00000438761.1:p.Leu42Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.595T>C
  hgvsp: ENSP00000455940.1:p.Leu199Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*419T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.611T>C
  hgvsp: ENSP00000444003.2:p.Leu204Pro
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu205Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

16-86575376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575376
    reference: chr 16
allele count: 3
allele frequency: 2.518511056263537e-5
allele num: 119118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.590A>G
  hgvsp: ENSP00000456652.2:p.Tyr197Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.589A>G
  hgvsp: ENSP00000455940.1:p.Tyr197Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.605A>G
  hgvsp: ENSP00000326777.6:p.Tyr202Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*115A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.608A>G
  hgvsp: ENSP00000354152.6:p.Tyr203Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*413A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.491A>G
  hgvsp: ENSP00000454807.1:p.Tyr164Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.605A>G
  hgvsp: ENSP00000444003.2:p.Tyr202Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.498A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.119A>G
  hgvsp: ENSP00000438761.1:p.Tyr40Cys
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.608A>G
  hgvsp: ENSP00000370612.5:p.Tyr203Cys
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr203Cys
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: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

16-86575378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575378
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575378
    reference: chr 16
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.588C>G
  hgvsp: ENSP00000456652.2:p.Asp196Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.489C>G
  hgvsp: ENSP00000454807.1:p.Asp163Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.603C>G
  hgvsp: ENSP00000444003.2:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.587C>G
  hgvsp: ENSP00000455940.1:p.Asp196Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.606C>G
  hgvsp: ENSP00000354152.6:p.Asp202Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*113C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.496C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.117C>G
  hgvsp: ENSP00000438761.1:p.Asp39Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.606C>G
  hgvsp: ENSP00000370612.5:p.Asp202Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.603C>G
  hgvsp: ENSP00000326777.6:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*411C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp202Glu
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: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-86575379-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575379
    reference: chr 16
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*410A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.488A>T
  hgvsp: ENSP00000454807.1:p.Asp163Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.602A>T
  hgvsp: ENSP00000326777.6:p.Asp201Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.605A>T
  hgvsp: ENSP00000354152.6:p.Asp202Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.586A>T
  hgvsp: ENSP00000455940.1:p.Asp196Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.602A>T
  hgvsp: ENSP00000444003.2:p.Asp201Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.605A>T
  hgvsp: ENSP00000370612.5:p.Asp202Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.116A>T
  hgvsp: ENSP00000438761.1:p.Asp39Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*112A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.495A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.587A>T
  hgvsp: ENSP00000456652.2:p.Asp196Val
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp202Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-86575380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575380
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575380
    reference: chr 16
allele count: 31
allele frequency: 2.598316961142589e-4
allele num: 119308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.487G>C
  hgvsp: ENSP00000454807.1:p.Asp163His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.585G>C
  hgvsp: ENSP00000455940.1:p.Asp196His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.115G>C
  hgvsp: ENSP00000438761.1:p.Asp39His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.604G>C
  hgvsp: ENSP00000354152.6:p.Asp202His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.494G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.604G>C
  hgvsp: ENSP00000370612.5:p.Asp202His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.601G>C
  hgvsp: ENSP00000326777.6:p.Asp201His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.601G>C
  hgvsp: ENSP00000444003.2:p.Asp201His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.586G>C
  hgvsp: ENSP00000456652.2:p.Asp196His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*111G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*409G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38488
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp202His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-86575385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575385
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575385
    reference: chr 16
allele count: 42
allele frequency: 3.514467892825465e-4
allele num: 119506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*106C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.110C>A
  hgvsp: ENSP00000438761.1:p.Thr37Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.596C>A
  hgvsp: ENSP00000444003.2:p.Thr199Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.596C>A
  hgvsp: ENSP00000326777.6:p.Thr199Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.580C>A
  hgvsp: ENSP00000455940.1:p.Thr194Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.599C>A
  hgvsp: ENSP00000370612.5:p.Thr200Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.581C>A
  hgvsp: ENSP00000456652.2:p.Thr194Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*404C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.482C>A
  hgvsp: ENSP00000454807.1:p.Thr161Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.599C>A
  hgvsp: ENSP00000354152.6:p.Thr200Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.489C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38418
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr200Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

16-86575392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575392
    reference: chr 16
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.592G>A
  hgvsp: ENSP00000354152.6:p.Asp198Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.573G>A
  hgvsp: ENSP00000455940.1:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*397G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.482G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.103G>A
  hgvsp: ENSP00000438761.1:p.Asp35Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.574G>A
  hgvsp: ENSP00000456652.2:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.589G>A
  hgvsp: ENSP00000444003.2:p.Asp197Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.475G>A
  hgvsp: ENSP00000454807.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.589G>A
  hgvsp: ENSP00000326777.6:p.Asp197Asn
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.592G>A
  hgvsp: ENSP00000370612.5:p.Asp198Asn
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp198Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

16-86575393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575393
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575393
    reference: chr 16
allele count: 2
allele frequency: 1.67022982362373e-5
allele num: 119744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.588C>T
  hgvsp: ENST00000322911.6:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.591C>T
  hgvsp: ENST00000381214.5:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.102C>T
  hgvsp: ENST00000546093.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.481C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.588C>T
  hgvsp: ENST00000543303.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.591C>T
  hgvsp: ENST00000360900.6:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.573C>T
  hgvsp: ENST00000562940.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.572C>T
  hgvsp: ENST00000566469.1:c.572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.474C>T
  hgvsp: ENST00000569000.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38341
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His197His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

16-86575409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575409
    reference: chr 16
allele count: 1
allele frequency: 8.335278231587371e-6
allele num: 119972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.465A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.575A>G
  hgvsp: ENSP00000354152.6:p.Glu192Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.575A>G
  hgvsp: ENSP00000370612.5:p.Glu192Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.572A>G
  hgvsp: ENSP00000326777.6:p.Glu191Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.458A>G
  hgvsp: ENSP00000454807.1:p.Glu153Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.572A>G
  hgvsp: ENSP00000444003.2:p.Glu191Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.557A>G
  hgvsp: ENSP00000456652.2:p.Glu186Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*82A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.556A>G
  hgvsp: ENSP00000455940.1:p.Glu186Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.86A>G
  hgvsp: ENSP00000438761.1:p.Glu29Gly
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*380A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu192Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-86575426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575426
    reference: chr 16
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.540C>T
  hgvsp: ENST00000562940.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.539C>T
  hgvsp: ENST00000566469.1:c.539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.558C>T
  hgvsp: ENST00000381214.5:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*363C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.69C>T
  hgvsp: ENST00000546093.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.558C>T
  hgvsp: ENST00000360900.6:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.555C>T
  hgvsp: ENST00000322911.6:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.441C>T
  hgvsp: ENST00000569000.1:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.555C>T
  hgvsp: ENST00000543303.2:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.448C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.558C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-86575428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575428
    reference: chr 16
allele count: 2
allele frequency: 1.665750503889527e-5
allele num: 120066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553G>T
  hgvsp: ENSP00000444003.2:p.Val185Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556G>T
  hgvsp: ENSP00000370612.5:p.Val186Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556G>T
  hgvsp: ENSP00000354152.6:p.Val186Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538G>T
  hgvsp: ENSP00000456652.2:p.Val180Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537G>T
  hgvsp: ENSP00000455940.1:p.Val180Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553G>T
  hgvsp: ENSP00000326777.6:p.Val185Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439G>T
  hgvsp: ENSP00000454807.1:p.Val147Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67G>T
  hgvsp: ENSP00000438761.1:p.Val23Phe
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val186Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-86575430-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575430
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575430
    reference: chr 16
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67-2A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.75e1
  variant carriers: 0
hgvs: c.556-2A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-86575432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575432
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575432
    reference: chr 16
allele count: 1
allele frequency: 8.329168748958854e-6
allele num: 120060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446-4C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67-4C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.556-4C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

16-86575438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575438
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575438
    reference: chr 16
allele count: 2
allele frequency: 1.665306666222585e-5
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538-10C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537-10C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

16-86575440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575440
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575440
    reference: chr 16
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63-12C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538-12C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

16-86575443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86575443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86575443
    reference: chr 16
allele count: 6
allele frequency: 4.995753609431982e-5
allele num: 120102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.439-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.556-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454593
  ensembl transcript: ENST00000567539
  gene symbol: MTHFSD
  hgvsc: ENST00000567539.1:c.*63-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.537-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.*361-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.553-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000326777
  ensembl transcript: ENST00000322911
  gene symbol: MTHFSD
  hgvsc: ENST00000322911.6:c.553-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000562096
  gene symbol: MTHFSD
  hgvsc: ENST00000562096.1:n.446-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.538-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.556-15C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.67-15C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38746
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28559
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1824
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.079913606911447e-3
allele num: 926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.52229e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.83e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.033e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

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

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19792
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1249
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.39994e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.79e-2

FS
type: SiteQuality
SIO_000300: 1.0e1

QD
type: SiteQuality
SIO_000300: 1.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.534999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 31218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 3.28734e5

QD
type: SiteQuality
SIO_000300: 1.559e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

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

GenotypeQuality
all individuals: 1456
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33690
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603592046183451e-4
allele num: 6236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.02916e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

QD
type: SiteQuality
SIO_000300: 5.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.484e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1059
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.88324e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.49e0

VQSLOD
type: SiteQuality
SIO_000300: -2.106e0

GenotypeQuality
all individuals: 121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 492
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.65077e5

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.827e1

VQSLOD
type: SiteQuality
SIO_000300: -8.075e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 491
bin: 6.25e1
variant carriers: 59

GenotypeQuality
all individuals: 5393
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 35

GenotypeQuality
all individuals: 358
bin: 9.75e1
variant carriers: 323

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 71

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 43

GenotypeQuality
all individuals: 65
bin: 7.75e1
variant carriers: 21

GenotypeQuality
all individuals: 57
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 30176
bin: 7.5e0
variant carriers: 150

GenotypeQuality
all individuals: 973
bin: 1.25e1
variant carriers: 73

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 22

South Asian
type: Population
allele count: 5
allele frequency: 1.506024096385542e-2
allele num: 332
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.125e-2
allele num: 32
num of homozygotes: 0

African
type: Population
allele count: 109
allele frequency: 1.135416666666667e-1
allele num: 960
num of homozygotes: 5

Latino
type: Population
allele count: 15
allele frequency: 7.653061224489796e-2
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.363636363636364e-1
allele num: 22
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 5.788712011577424e-2
allele num: 2764
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 1.61429e5

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.627e1

GenotypeQuality
all individuals: 236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.572327044025157e-3
allele num: 1908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.423e1

DP
type: SiteQuality
SIO_000300: 1.25984e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.011e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 76
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1040
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15653
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 16968
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 39
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 8.143322475570033e-3
allele num: 614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.504504504504504e-3
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 9.150326797385621e-3
allele num: 1530
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.0e-2
allele num: 20
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.26637e5

VQSLOD
type: SiteQuality
SIO_000300: -8.702e1

QD
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 1.42233e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.219e-1

GenotypeQuality
all individuals: 10492
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.071661237785016e-4
allele num: 2456
num of homozygotes: 0

Latino
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: 228
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.93e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 1.35743e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.745318352059925e-3
allele num: 534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.02119e5

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.185e0

FS
type: SiteQuality
SIO_000300: 6.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

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

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.745318352059925e-3
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

DP
type: SiteQuality
SIO_000300: 2.02558e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
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: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314405888538381e-4
allele num: 7608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 1.212e0

DP
type: SiteQuality
SIO_000300: 2.03181e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.016e0

VQSLOD
type: SiteQuality
SIO_000300: -3.199e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 5.55e0

GenotypeQuality
all individuals: 465
bin: 6.25e1
variant carriers: 67

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 96

GenotypeQuality
all individuals: 312
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 40

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 32

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 78

GenotypeQuality
all individuals: 220
bin: 7.75e1
variant carriers: 67

GenotypeQuality
all individuals: 4172
bin: 9.75e1
variant carriers: 3600

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 53

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 15

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 52

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 36

GenotypeQuality
all individuals: 251
bin: 6.75e1
variant carriers: 62

South Asian
type: Population
allele count: 3167
allele frequency: 4.170397682380827e-1
allele num: 7594
num of homozygotes: 683

East Asian
type: Population
allele count: 56
allele frequency: 2.88659793814433e-1
allele num: 194
num of homozygotes: 8

Latino
type: Population
allele count: 72
allele frequency: 4.0e-1
allele num: 180
num of homozygotes: 17

African
type: Population
allele count: 115
allele frequency: 2.169811320754717e-1
allele num: 530
num of homozygotes: 10

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

Other
type: Population
allele count: 64
allele frequency: 4.848484848484849e-1
allele num: 132
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 1998
allele frequency: 5.581005586592179e-1
allele num: 3580
num of homozygotes: 545

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.216e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.635e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.53484e5

FS
type: SiteQuality
SIO_000300: 1.846e0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14790
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.930832356389214e-4
allele num: 3412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.20714e5

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

FS
type: SiteQuality
SIO_000300: 3.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

GenotypeQuality
all individuals: 2831
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.89741e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

GenotypeQuality
all individuals: 11000
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
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variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.735910195579215e-4
allele num: 17282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.218e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 6.37949e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 432
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8395
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.23066982554383e-4
allele num: 9286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19128
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 6.82629e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.643e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.74e-1

GenotypeQuality
all individuals: 1716
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30494
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
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variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
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GenotypeQuality
all individuals: 696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.053296819043606e-4
allele num: 9494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.12759e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 11928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4572
bin: 7.5e0
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GenotypeQuality
all individuals: 2288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 30686
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variant carriers: 0

GenotypeQuality
all individuals: 651
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GenotypeQuality
all individuals: 931
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.039098473220777e-5
allele num: 24758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.384e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 7.77527e5

QD
type: SiteQuality
SIO_000300: 1.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 321
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GenotypeQuality
all individuals: 246
bin: 8.75e1
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GenotypeQuality
all individuals: 196
bin: 5.25e1
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GenotypeQuality
all individuals: 812
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 1659
bin: 3.25e1
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GenotypeQuality
all individuals: 326
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GenotypeQuality
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GenotypeQuality
all individuals: 962
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variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25992
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.878975950349108e-4
allele num: 5156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.90081e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.849e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 7.5e0
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GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
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GenotypeQuality
all individuals: 1477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.25e1
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GenotypeQuality
all individuals: 968
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 343
bin: 4.75e1
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GenotypeQuality
all individuals: 29132
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variant carriers: 0

GenotypeQuality
all individuals: 883
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variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.256692503093858e-5
allele num: 30706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.203e0

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 8.54704e5

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
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GenotypeQuality
all individuals: 1674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.740947075208914e-4
allele num: 5744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 1.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 8.62378e5

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

GenotypeQuality
all individuals: 587
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 28856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 6.615006615006615e-4
allele num: 10582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.602458229306702e-5
allele num: 31242
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.753714542998649e-4
allele num: 4442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 1.668e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

DP
type: SiteQuality
SIO_000300: 8.62378e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27486
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.57653791130186e-4
allele num: 2796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.709886848451122e-4
allele num: 10782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 8.91117e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.624e0

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1345
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1222
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25253
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1596
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 907
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1036
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1432
bin: 9.75e1
variant carriers: 477

GenotypeQuality
all individuals: 18736
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 11

GenotypeQuality
all individuals: 3050
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

African
type: Population
allele count: 467
allele frequency: 7.108066971080669e-2
allele num: 6570
num of homozygotes: 14

Latino
type: Population
allele count: 26
allele frequency: 7.369614512471655e-3
allele num: 3528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.11864406779661e-3
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.874062968515742e-4
allele num: 37352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 1.988e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

QD
type: SiteQuality
SIO_000300: 1.556e1

DP
type: SiteQuality
SIO_000300: 9.48827e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.483e0

GenotypeQuality
all individuals: 592
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1036
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 1463
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variant carriers: 0

GenotypeQuality
all individuals: 1596
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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
all individuals: 1222
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.677232812165346e-5
allele num: 37352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.48827e5

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

FS
type: SiteQuality
SIO_000300: 1.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.483e0

QD
type: SiteQuality
SIO_000300: 1.556e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 1516
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variant carriers: 0

GenotypeQuality
all individuals: 3129
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 422
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variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.508295625942685e-4
allele num: 6630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 9.56194e5

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

GenotypeQuality
all individuals: 1021
bin: 3.75e1
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
all individuals: 877
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GenotypeQuality
all individuals: 1515
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.901480247034604e-5
allele num: 40804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.97926e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.716e0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 1010
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variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
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variant carriers: 0

GenotypeQuality
all individuals: 420
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GenotypeQuality
all individuals: 21533
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GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 1172
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GenotypeQuality
all individuals: 624
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GenotypeQuality
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 968
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GenotypeQuality
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GenotypeQuality
all individuals: 22096
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GenotypeQuality
all individuals: 1250
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.306911506874596e-5
allele num: 43348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.72e0

DP
type: SiteQuality
SIO_000300: 1.025391e6

GenotypeQuality
all individuals: 163
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.342804613070366e-4
allele num: 11966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.632e0

DP
type: SiteQuality
SIO_000300: 1.055424e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 1.2975e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 656
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1422
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1313
bin: 7.25e1
variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1532
bin: 9.75e1
variant carriers: 505

GenotypeQuality
all individuals: 1027
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3868
bin: 6.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.945693531649948e-4
allele num: 46256
num of homozygotes: 0

African
type: Population
allele count: 496
allele frequency: 6.699081577525662e-2
allele num: 7404
num of homozygotes: 15

South Asian
type: Population
allele count: 1
allele frequency: 8.278145695364238e-5
allele num: 12080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.736111111111111e-3
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 5.916030534351145e-3
allele num: 5240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.070791e6

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 1.651e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

GenotypeQuality
all individuals: 1379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
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variant carriers: 0

GenotypeQuality
all individuals: 1637
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variant carriers: 0

GenotypeQuality
all individuals: 1214
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variant carriers: 7

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18564
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 4043
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variant carriers: 0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
all individuals: 593
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GenotypeQuality
all individuals: 441
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GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 1014
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variant carriers: 0

GenotypeQuality
all individuals: 25044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.663825253063399e-4
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.188666885031116e-5
allele num: 12212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.438818565400843e-5
allele num: 47400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 6.499e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.539e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.082326e6

GenotypeQuality
all individuals: 4043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18564
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.5e0
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GenotypeQuality
all individuals: 1214
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
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variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.717622810030917e-4
allele num: 5822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

FS
type: SiteQuality
SIO_000300: 6.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.082326e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 1.539e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 2.75e1
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GenotypeQuality
all individuals: 864
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variant carriers: 0

GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 18039
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GenotypeQuality
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GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 134
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 1400
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GenotypeQuality
all individuals: 4088
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GenotypeQuality
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GenotypeQuality
all individuals: 1664
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GenotypeQuality
all individuals: 1022
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variant carriers: 0

GenotypeQuality
all individuals: 24476
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variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.148631029986962e-5
allele num: 12272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.103e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.09076e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeQuality
all individuals: 448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25645
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variant carriers: 0

GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 679
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17510
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 650
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1394
bin: 3.25e1
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GenotypeQuality
all individuals: 1217
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variant carriers: 1

GenotypeQuality
all individuals: 1012
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variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.098477486232588e-5
allele num: 12348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.09e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.1027e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.496e0

FS
type: SiteQuality
SIO_000300: 7.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 16994
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 1711
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 477
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GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 1301
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variant carriers: 0

GenotypeQuality
all individuals: 454
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GenotypeQuality
all individuals: 1443
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GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.018163471241171e-5
allele num: 49550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.91e0

VQSLOD
type: SiteQuality
SIO_000300: -8.688e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 1.112939e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

GenotypeQuality
all individuals: 465
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
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variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 3.25e1
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GenotypeQuality
all individuals: 26229
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GenotypeQuality
all individuals: 873
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GenotypeQuality
all individuals: 674
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GenotypeQuality
all individuals: 16043
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GenotypeQuality
all individuals: 1487
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GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 451
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GenotypeQuality
all individuals: 1028
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.966857871255577e-5
allele num: 12552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.130213e6

FS
type: SiteQuality
SIO_000300: 1.561e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.48e0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.858321563963428e-5
allele num: 53812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12970
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.180543e6

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 2.782e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.748374012168683e-5
allele num: 57196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.238473e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.822e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 9.391e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

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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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.147315282239559e-4
allele num: 8716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13684
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 2.955e1

FS
type: SiteQuality
SIO_000300: 1.2825e1

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

DP
type: SiteQuality
SIO_000300: 1.261334e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

GenotypeQuality
all individuals: 5315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 8808
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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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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1468
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GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.084745762711864e-5
allele num: 59000
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.952e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.273832e6

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 5393
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.13947128532361e-4
allele num: 8776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.179781734635267e-5
allele num: 13928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

DP
type: SiteQuality
SIO_000300: 1.283177e6

FS
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.133272892112421e-4
allele num: 8824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.377e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.292376e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2293
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.326126725428239e-5
allele num: 60130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.247327156094084e-3
allele num: 5612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.16076058772688e-4
allele num: 9256
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.610966057441253e-3
allele num: 766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.296419e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.685e0

ClippingRankSum
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SIO_000300: -5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 891
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2445
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variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.015574575557738e-5
allele num: 14254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.115e-1

DP
type: SiteQuality
SIO_000300: 1.324199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
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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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variant carriers: 2

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

GenotypeQuality
all individuals: 885
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.10938540048813e-4
allele num: 9014
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.02247191011236e-5
allele num: 14240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.331515e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.072e0

QD
type: SiteQuality
SIO_000300: 1.052e1

FS
type: SiteQuality
SIO_000300: 1.4832e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1654
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GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.002807862013638e-4
allele num: 9972
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.200704225352113e-4
allele num: 9088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.002e0

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 2.518e1

DP
type: SiteQuality
SIO_000300: 1.345737e6

GenotypeQuality
all individuals: 597
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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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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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 782
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GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.522704339051463e-4
allele num: 7928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.82e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.8572e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 1.363474e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

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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GenotypeQuality
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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: 4

GenotypeQuality
all individuals: 6483
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GenotypeQuality
all individuals: 2793
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.273919317397578e-5
allele num: 63756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.7729e1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 1.388001e6

BaseQRankSum
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MQ
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SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38180
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64962
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.402691013935608e-4
allele num: 8324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
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SIO_000300: 3.0e-4

VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
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SIO_000300: 1.458e1

ClippingRankSum
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SIO_000300: 2.6e-1

BaseQRankSum
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SIO_000300: 4.94e0

DP
type: SiteQuality
SIO_000300: 1.423172e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2591
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GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525134211810639e-5
allele num: 65568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 3.016e0

DP
type: SiteQuality
SIO_000300: 1.443122e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.843296781039972e-5
allele num: 11308
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6414
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

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.13e0

MQRankSum
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SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
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SIO_000300: 1.447008e6

BaseQRankSum
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SIO_000300: -2.782e0

FS
type: SiteQuality
SIO_000300: 1.086e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeDepth
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 39731
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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: 9.75e1
variant carriers: 5

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.861664712778429e-4
allele num: 8530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.294e0

DP
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SIO_000300: 1.455625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
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allele frequency: 3.507951356407858e-4
allele num: 8552
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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
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SIO_000300: 2.31e0

MQ
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FS
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.461648e6

GenotypeDepth
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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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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

GenotypeQuality
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GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
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SIO_000300: 1.463341e6

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
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MQ
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SIO_000300: 5.879e1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeDepth
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
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SIO_000300: 1.463993e6

FS
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.9e-3

MQRankSum
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ClippingRankSum
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SIO_000300: -2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.57e-2

MQ
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SIO_000300: 5.959e1

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 2
allele frequency: 3.061849357011635e-4
allele num: 6532
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.23485283886385e-4
allele num: 66118
num of homozygotes: 0

Latino
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allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

FS
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeDepth
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variant carriers: 2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 3.802672147995889e-3
allele num: 9730
num of homozygotes: 0

Latino
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allele frequency: 3.483106931382794e-4
allele num: 11484
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Other
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European (Non-Finnish)
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allele num: 66184
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South Asian
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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ReadPosRankSum
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SIO_000300: 5.03e-1

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

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.235635734585444e-4
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MQRankSum
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SIO_000300: -4.95e-1

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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African
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allele frequency: 1.024380249948781e-4
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European (Finnish)
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InbreedingCoeff
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FS
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MQRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.942e1

ReadPosRankSum
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SIO_000300: -2.08e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

South Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66380
num of homozygotes: 0

South Asian
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East Asian
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Latino
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European (Finnish)
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Other
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African
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.477129e6

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 3.917e0

QD
type: SiteQuality
SIO_000300: 9.41e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

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

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 786
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 2.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

VQSLOD
type: SiteQuality
SIO_000300: -1.224e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 3.854e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.476766e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0