http://identifiers.org/exac.variant/16-86585736-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585736
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585736
    reference: chr 16
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.121G>T
  hgvsp: ENSP00000455940.1:p.Cys41Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.80G>T
  hgvsp: ENSP00000457794.1:p.Cys27Phe
  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.-330+49G>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.140G>T
  hgvsp: ENSP00000354152.6:p.Cys47Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+49G>T
  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.137G>T
  hgvsp: ENSP00000326777.6:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-410G>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.122G>T
  hgvsp: ENSP00000456652.2:p.Cys41Phe
  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.120+2515G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.479G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.140G>T
  hgvsp: ENSP00000456910.1:p.Cys47Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.80G>T
  hgvsp: ENSP00000455208.1:p.Cys27Phe
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2515G>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.237+49G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+49G>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.234+49G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-427G>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.120+2515G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys47Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

16-86585743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585743
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585743
    reference: chr 16
allele count: 4151
allele frequency: 3.43825064192827e-2
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.120+2508C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.73C>G
  hgvsp: ENSP00000455208.1:p.Leu25Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-417C>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.-330+42C>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.130C>G
  hgvsp: ENSP00000326777.6:p.Leu44Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.73C>G
  hgvsp: ENSP00000457794.1:p.Leu25Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2508C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-434C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+42C>G
  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.115C>G
  hgvsp: ENSP00000456652.2:p.Leu39Val
  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.120+2508C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.133C>G
  hgvsp: ENSP00000456910.1:p.Leu45Val
  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.237+42C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+42C>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.114C>G
  hgvsp: ENSP00000455940.1:p.Leu39Val
  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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.472C>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.133C>G
  hgvsp: ENSP00000354152.6:p.Leu45Val
  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.234+42C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
hgvs: p.Leu45Val
num of homozygotes: 119
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

16-86585744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585744
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585744
    reference: chr 16
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.113T>C
  hgvsp: ENST00000566469.1:c.113T>C(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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+41T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-435T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-418T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.72T>C
  hgvsp: ENST00000565482.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.132T>C
  hgvsp: ENST00000566050.1:c.132T>C(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.132T>C
  hgvsp: ENST00000360900.6:c.132T>C(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.114T>C
  hgvsp: ENST00000562940.2:c.114T>C(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.129T>C
  hgvsp: ENST00000322911.6:c.129T>C(p.%3D)
  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.120+2507T>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.234+41T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.72T>C
  hgvsp: ENST00000561989.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2507T>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.120+2507T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+41T>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.-330+41T>C
  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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.471T>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.237+41T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr44Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

16-86585746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585746
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585746
    reference: chr 16
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
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.120+2505T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.70T>C
  hgvsp: ENSP00000457794.1:p.Tyr24His
  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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.469T>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.234+39T>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.112T>C
  hgvsp: ENSP00000456652.2:p.Tyr38His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-420T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.70T>C
  hgvsp: ENSP00000455208.1:p.Tyr24His
  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.111T>C
  hgvsp: ENSP00000455940.1:p.Tyr38His
  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.-330+39T>C
  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.127T>C
  hgvsp: ENSP00000326777.6:p.Tyr43His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.130T>C
  hgvsp: ENSP00000456910.1:p.Tyr44His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+39T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-437T>C
  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.120+2505T>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.237+39T>C
  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.130T>C
  hgvsp: ENSP00000354152.6:p.Tyr44His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2505T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+39T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr44His
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-86585749-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585749
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585749
    reference: chr 16
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+36T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+36T>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.-330+36T>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.237+36T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-440T>A
  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.109T>A
  hgvsp: ENSP00000456652.2:p.Ser37Thr
  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.127T>A
  hgvsp: ENSP00000354152.6:p.Ser43Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.67T>A
  hgvsp: ENSP00000455208.1:p.Ser23Thr
  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.108T>A
  hgvsp: ENSP00000455940.1:p.Ser37Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456910
  ensembl transcript: ENST00000566050
  gene symbol: MTHFSD
  hgvsc: ENST00000566050.1:c.127T>A
  hgvsp: ENSP00000456910.1:p.Ser43Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.67T>A
  hgvsp: ENSP00000457794.1:p.Ser23Thr
  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.124T>A
  hgvsp: ENSP00000326777.6:p.Ser42Thr
  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.234+36T>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.120+2502T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-423T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2502T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.466T>A
  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.120+2502T>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser43Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

16-86585756-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585756
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585756
    reference: chr 16
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-4C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-4C>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.124-4C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+29C>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.-330+29C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-4C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+29C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-4C>G
  variant of: http://identifiers.org/hgnc/25778
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.105-4C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-4C>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.120+2495C>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.121-4C>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.106-4C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2495C>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.234+29C>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.124-4C>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.237+29C>G
  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.120+2495C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124-4C>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

16-86585762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585762
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585762
    reference: chr 16
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2489G>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.120+2489G>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.106-10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-10G>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.-330+23G>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.121-10G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+23G>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.124-10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-10G>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.124-10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+23G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-10G>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.237+23G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-10G>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.234+23G>A
  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.120+2489G>A
  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.105-10G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-10G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

16-86585766-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585766
    reference: chr 16
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.237+19A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+19A>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.106-14A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-14A>G
  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.120+2485A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-14A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-14A>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.124-14A>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.-330+19A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2485A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-14A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-14A>G
  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.105-14A>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.124-14A>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.121-14A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+19A>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.234+19A>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.120+2485A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-86585766-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585765
    reference: chr 16
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
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.121-15delT
  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.106-15delT
  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.120+2484delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-15delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2484delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-15delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+18delT
  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.124-15delT
  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.124-15delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-15delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-15delT
  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.-330+18delT
  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.120+2484delT
  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.237+18delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+18delT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-15delT
  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.105-15delT
  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.234+18delT
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: TA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-86585766-TAGAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585766
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585762
    reference: chr 16
allele count: 8
allele frequency: 6.628772185671909e-5
allele num: 120686
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.121-18_121-15delGTCT
  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.120+2481_120+2484delGTCT
  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.120+2481_120+2484delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-18_-426-15delGTCT
  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.124-18_124-15delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-18_64-15delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2481_123+2484delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-18_-443-15delGTCT
  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.237+15_237+18delGTCT
  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.-330+15_-330+18delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+15_177+18delGTCT
  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.124-18_124-15delGTCT
  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.234+15_234+18delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+15_231+18delGTCT
  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.106-18_106-15delGTCT
  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.105-18_105-15delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-18_463-15delGTCT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-18_64-15delGTCT
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TAGAC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

16-86585768-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585768
    reference: chr 16
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-330+17C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-16C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-16C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+17C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-16C>G
  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.120+2483C>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.124-16C>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.120+2483C>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.124-16C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-16C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2483C>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.234+17C>G
  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.105-16C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-16C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+17C>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.121-16C>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.106-16C>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.237+17C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-86585770-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585770
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585771
    reference: chr 16
allele count: 17
allele frequency: 1.408987683790011e-4
allele num: 120654
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-19dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-19dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2480dupT
  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.237+14dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+14dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+14dupT
  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.120+2480dupT
  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.105-19dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-19dupT
  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.124-19dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-19dupT
  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.121-19dupT
  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.124-19dupT
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-19dupT
  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.106-19dupT
  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.120+2480dupT
  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.234+14dupT
  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.-330+14dupT
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-86585774-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585774
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585774
    reference: chr 16
allele count: 7
allele frequency: 5.802194887437419e-5
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-22C>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.124-22C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-22C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+11C>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.106-22C>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.-330+11C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+11C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-22C>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.234+11C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-22C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-22C>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.121-22C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-22C>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.237+11C>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2477C>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.120+2477C>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.124-22C>A
  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.120+2477C>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-86585775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585775
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585775
    reference: chr 16
allele count: 206
allele frequency: 1.707871130345388e-3
allele num: 120618
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.121-23A>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.237+10A>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.106-23A>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.124-23A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-23A>G
  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.105-23A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-23A>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.120+2476A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+10A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+10A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2476A>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.124-23A>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.234+10A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-23A>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.-330+10A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-23A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-23A>G
  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.120+2476A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

16-86585775-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585775
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585775
    reference: chr 16
allele count: 48
allele frequency: 3.979505546435856e-4
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-23A>C
  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.120+2476A>C
  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.105-23A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+10A>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.106-23A>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.234+10A>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.-330+10A>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.121-23A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-23A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2476A>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.124-23A>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.237+10A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-23A>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.124-23A>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.120+2476A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+10A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-23A>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-23A>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-86585777-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585777
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585777
    reference: chr 16
allele count: 69
allele frequency: 5.720728936939327e-4
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+8C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-25C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-25C>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.237+8C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-25C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2474C>G
  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.234+8C>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.120+2474C>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.124-25C>G
  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.-330+8C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+8C>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.106-25C>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.124-25C>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.121-25C>G
  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.105-25C>G
  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.120+2474C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-25C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-25C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.237+8C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-86585779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585779
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585779
    reference: chr 16
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
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.124-27T>G
  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.234+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: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-330+6T>G
  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.105-27T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-27T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2472T>G
  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.120+2472T>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.121-27T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.177+6T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-27T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-27T>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.124-27T>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.231+6T>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.106-27T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-27T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-27T>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.120+2472T>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.237+6T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.237+6T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-86585787-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585787
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585787
    reference: chr 16
allele count: 2
allele frequency: 1.663727414900343e-5
allele num: 120212
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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.229G>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.105-35G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.232G>T
  hgvsp: ENSP00000444003.2:p.Glu78Ter
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.175G>T
  hgvsp: ENSP00000458104.1:p.Glu59Ter
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-35G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-332G>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.120+2464G>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.121-35G>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.106-35G>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.124-35G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-35G>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.120+2464G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-35G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2464G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.235G>T
  hgvsp: ENSP00000370612.5:p.Glu79Ter
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-35G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-35G>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.124-35G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu79Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

16-86585793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585793
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585793
    reference: chr 16
allele count: 9
allele frequency: 7.527475284789482e-5
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2458G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-338G>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.124-41G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.223G>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.120+2458G>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.124-41G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.169G>A
  hgvsp: ENSP00000458104.1:p.Val57Ile
  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.106-41G>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.229G>A
  hgvsp: ENSP00000370612.5:p.Val77Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-41G>A
  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.120+2458G>A
  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.105-41G>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.226G>A
  hgvsp: ENSP00000444003.2:p.Val76Ile
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-41G>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.121-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-41G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-41G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val77Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

16-86585794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585794
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585794
    reference: chr 16
allele count: 3
allele frequency: 2.511258810332993e-5
allele num: 119462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-42C>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.124-42C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.168C>T
  hgvsp: ENST00000564364.1:c.168C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.222C>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.106-42C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-42C>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.225C>T
  hgvsp: ENST00000543303.2:c.225C>T(p.%3D)
  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.120+2457C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-42C>T
  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.228C>T
  hgvsp: ENST00000381214.5:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-339C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-42C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-42C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2457C>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.121-42C>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.124-42C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-42C>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.120+2457C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe76Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

16-86585801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585801
    reference: chr 16
allele count: 2
allele frequency: 1.682935038707506e-5
allele num: 118840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-49G>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.124-49G>A
  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.120+2450G>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.106-49G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-49G>A
  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.105-49G>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.120+2450G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2450G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-49G>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.221G>A
  hgvsp: ENSP00000370612.5:p.Arg74His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.161G>A
  hgvsp: ENSP00000458104.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-346G>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.121-49G>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.218G>A
  hgvsp: ENSP00000444003.2:p.Arg73His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-49G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.215G>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.124-49G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-49G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-86585801-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585801
    reference: chr 16
allele count: 2
allele frequency: 1.682935038707506e-5
allele num: 118840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-49G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-49G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-49G>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.124-49G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-346G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-49G>C
  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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.215G>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.218G>C
  hgvsp: ENSP00000444003.2:p.Arg73Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.161G>C
  hgvsp: ENSP00000458104.1:p.Arg54Pro
  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.120+2450G>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.221G>C
  hgvsp: ENSP00000370612.5:p.Arg74Pro
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-49G>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.106-49G>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.124-49G>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2450G>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.121-49G>C
  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.120+2450G>C
  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.105-49G>C
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74Pro
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-86585802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585802
    reference: chr 16
allele count: 3
allele frequency: 2.528061482455253e-5
allele num: 118668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000354152
  ensembl transcript: ENST00000360900
  gene symbol: MTHFSD
  hgvsc: ENST00000360900.6:c.124-50C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2449C>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.120+2449C>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.220C>T
  hgvsp: ENSP00000370612.5:p.Arg74Cys
  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.121-50C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.214C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-50C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-50C>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.217C>T
  hgvsp: ENSP00000444003.2:p.Arg73Cys
  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.120+2449C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-50C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-50C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-347C>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.124-50C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-50C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.160C>T
  hgvsp: ENSP00000458104.1:p.Arg54Cys
  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.105-50C>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.106-50C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/16-86585806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585806
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585806
    reference: chr 16
allele count: 1
allele frequency: 8.481044864727334e-6
allele num: 117910
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.121-54T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-54T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2445T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-54T>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.213T>G
  hgvsp: ENSP00000444003.2:p.Ser71Arg
  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.106-54T>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.210T>G
  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.120+2445T>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.124-54T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-54T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-351T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-54T>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.216T>G
  hgvsp: ENSP00000370612.5:p.Ser72Arg
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.156T>G
  hgvsp: ENSP00000458104.1:p.Ser52Arg
  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.124-54T>G
  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.105-54T>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.120+2445T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-54T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser72Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

16-86585813-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585813
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585814
    reference: chr 16
allele count: 3
allele frequency: 2.584691732432712e-5
allele num: 116068
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2437dupC
  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.121-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-359dupC
  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.106-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.148dupC
  hgvsp: ENSP00000458104.1:p.Gln50ProfsTer10
  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.124-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-62dupC
  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.120+2437dupC
  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.124-62dupC
  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.105-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-62dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.205dupC
  hgvsp: ENSP00000444003.2:p.Gln69ProfsTer10
  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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.202dupC
  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.120+2437dupC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.208dupC
  hgvsp: ENSP00000370612.5:p.Gln70ProfsTer10
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln70ProfsTer10
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-86585818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585818
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585818
    reference: chr 16
allele count: 1
allele frequency: 8.757794437048973e-6
allele num: 114184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-66C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-66C>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.121-66C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-66C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-66C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-66C>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.120+2433C>T
  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.204C>T
  hgvsp: ENST00000381214.5:c.204C>T(p.%3D)
  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.106-66C>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.124-66C>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.120+2433C>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.201C>T
  hgvsp: ENST00000543303.2:c.201C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.198C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.144C>T
  hgvsp: ENST00000564364.1:c.144C>T(p.%3D)
  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.124-66C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2433C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-66C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-363C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala68Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-86585820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585820
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585820
    reference: chr 16
allele count: 1
allele frequency: 8.829554284099738e-6
allele num: 113256
alternate allele: T
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.124-68G>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.121-68G>A
  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.120+2431G>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.124-68G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.196G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-68G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2431G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-68G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.142G>A
  hgvsp: ENSP00000458104.1:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-68G>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.199G>A
  hgvsp: ENSP00000444003.2:p.Ala67Thr
  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.105-68G>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.120+2431G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-365G>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.106-68G>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.202G>A
  hgvsp: ENSP00000370612.5:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-68G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-68G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala68Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

16-86585822-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585822
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585822
    reference: chr 16
allele count: 12
allele frequency: 1.068166847661605e-4
allele num: 112342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-70A>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.200A>T
  hgvsp: ENSP00000370612.5:p.Asp67Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.140A>T
  hgvsp: ENSP00000458104.1:p.Asp47Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-70A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-70A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-70A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-367A>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.120+2429A>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.105-70A>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.197A>T
  hgvsp: ENSP00000444003.2:p.Asp66Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-70A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.194A>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.124-70A>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.124-70A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2429A>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.106-70A>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.121-70A>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.120+2429A>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp67Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

16-86585825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585825
    reference: chr 16
allele count: 4
allele frequency: 3.611216438257227e-5
allele num: 110766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-73C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2426C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-73C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-73C>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.120+2426C>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.197C>T
  hgvsp: ENSP00000370612.5:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-73C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.191C>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.120+2426C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.137C>T
  hgvsp: ENSP00000458104.1:p.Pro46Leu
  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.106-73C>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.121-73C>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.124-73C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-370C>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.194C>T
  hgvsp: ENSP00000444003.2:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-73C>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.124-73C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-73C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro66Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-86585833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585833
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585833
    reference: chr 16
allele count: 10
allele frequency: 9.512032721392562e-5
allele num: 105130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.186A>G
  hgvsp: ENST00000543303.2:c.186A>G(p.%3D)
  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.120+2418A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.183A>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.106-81A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.129A>G
  hgvsp: ENST00000564364.1:c.129A>G(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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-81A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-378A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-81A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-81A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-81A>G
  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.189A>G
  hgvsp: ENST00000381214.5:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-81A>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.124-81A>G
  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.105-81A>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.124-81A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2418A>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.120+2418A>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.121-81A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys63Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

16-86585835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585835
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585835
    reference: chr 16
allele count: 7
allele frequency: 6.748288826761786e-5
allele num: 103730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.184A>G
  hgvsp: ENSP00000444003.2:p.Lys62Glu
  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.106-83A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.127A>G
  hgvsp: ENSP00000458104.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-83A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-83A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-380A>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.187A>G
  hgvsp: ENSP00000370612.5:p.Lys63Glu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-83A>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.124-83A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.181A>G
  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.120+2416A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-83A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-83A>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.120+2416A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2416A>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.124-83A>G
  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.105-83A>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.121-83A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys63Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-86585848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585848
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585848
    reference: chr 16
allele count: 7
allele frequency: 7.772768660196762e-5
allele num: 90058
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.124-96G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2403G>A
  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.105-96G>A
  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.120+2403G>A
  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.174G>A
  hgvsp: ENST00000381214.5:c.174G>A(p.%3D)
  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.106-96G>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.120+2403G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-96G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-96G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-96G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-96G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.114G>A
  hgvsp: ENST00000564364.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-393G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-96G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.168G>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.124-96G>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.171G>A
  hgvsp: ENST00000543303.2:c.171G>A(p.%3D)
  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.121-96G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr58Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

16-86585849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585849
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585849
    reference: chr 16
allele count: 11
allele frequency: 1.231141155929624e-4
allele num: 89348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-97C>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.124-97C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-394C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-97C>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.170C>T
  hgvsp: ENSP00000444003.2:p.Thr57Met
  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.120+2402C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-97C>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.121-97C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2402C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.167C>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.105-97C>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.173C>T
  hgvsp: ENSP00000370612.5:p.Thr58Met
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.113C>T
  hgvsp: ENSP00000458104.1:p.Thr38Met
  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.120+2402C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-97C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-97C>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.124-97C>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.106-97C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr58Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

16-86585854-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585854
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585854
    reference: chr 16
allele count: 1
allele frequency: 1.159662306336395e-5
allele num: 86232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.165C>G
  hgvsp: ENSP00000444003.2:p.Phe55Leu
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-102C>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.106-102C>G
  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.120+2397C>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.168C>G
  hgvsp: ENSP00000370612.5:p.Phe56Leu
  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.124-102C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-102C>G
  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.105-102C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.108C>G
  hgvsp: ENSP00000458104.1:p.Phe36Leu
  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.120+2397C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-102C>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.124-102C>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.121-102C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-399C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2397C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-102C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-102C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.162C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe56Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

16-86585857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585857
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585857
    reference: chr 16
allele count: 2
allele frequency: 2.4523027122468e-5
allele num: 81556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-105G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-105G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-402G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.105G>A
  hgvsp: ENST00000564364.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2394G>A
  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.165G>A
  hgvsp: ENST00000381214.5:c.165G>A(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.162G>A
  hgvsp: ENST00000543303.2:c.162G>A(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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-105G>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.124-105G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.159G>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.121-105G>A
  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.120+2394G>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.106-105G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-105G>A
  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.105-105G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-105G>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.124-105G>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.120+2394G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala55Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

16-86585858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585858
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585858
    reference: chr 16
allele count: 5
allele frequency: 6.133765150399921e-5
allele num: 81516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-106C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.104C>T
  hgvsp: ENSP00000458104.1:p.Ala35Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-106C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2393C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-403C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-106C>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.120+2393C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.158C>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.121-106C>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.124-106C>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.164C>T
  hgvsp: ENSP00000370612.5:p.Ala55Val
  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.106-106C>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.161C>T
  hgvsp: ENSP00000444003.2:p.Ala54Val
  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.120+2393C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-106C>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.124-106C>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.105-106C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-106C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala55Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-86585867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585867
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585867
    reference: chr 16
allele count: 1
allele frequency: 1.330636576538216e-5
allele num: 75152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.106-115G>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.121-115G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-115G>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.124-115G>A
  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.120+2384G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-412G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-115G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2384G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.95G>A
  hgvsp: ENSP00000458104.1:p.Arg32His
  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.124-115G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-115G>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.152G>A
  hgvsp: ENSP00000444003.2:p.Arg51His
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-115G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-115G>A
  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.105-115G>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.155G>A
  hgvsp: ENSP00000370612.5:p.Arg52His
  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.120+2384G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.149G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg52His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-86585871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585871
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585871
    reference: chr 16
allele count: 2
allele frequency: 2.86360642593282e-5
allele num: 69842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.91C>T
  hgvsp: ENSP00000458104.1:p.Pro31Ser
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-416C>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.124-119C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-119C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2380C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.145C>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.106-119C>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.120+2380C>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.151C>T
  hgvsp: ENSP00000370612.5:p.Pro51Ser
  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.148C>T
  hgvsp: ENSP00000444003.2:p.Pro50Ser
  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.120+2380C>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.124-119C>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.105-119C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-119C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-119C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-119C>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.121-119C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-119C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro51Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-86585880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585880
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585880
    reference: chr 16
allele count: 1
allele frequency: 1.585841606140379e-5
allele num: 63058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-128G>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.124-128G>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.120+2371G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-128G>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.124-128G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-128G>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.106-128G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2371G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.82G>A
  hgvsp: ENSP00000458104.1:p.Glu28Lys
  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.142G>A
  hgvsp: ENSP00000370612.5:p.Glu48Lys
  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.121-128G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-425G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-128G>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.139G>A
  hgvsp: ENSP00000444003.2:p.Glu47Lys
  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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.136G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-128G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-128G>A
  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.120+2371G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu48Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-86585881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585881
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585881
    reference: chr 16
allele count: 1
allele frequency: 1.634681400595024e-5
allele num: 61174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-129C>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.121-129C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.135C>G
  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.120+2370C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-129C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.81C>G
  hgvsp: ENST00000564364.1:c.81C>G(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.141C>G
  hgvsp: ENST00000381214.5:c.141C>G(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.124-129C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-129C>G
  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.138C>G
  hgvsp: ENST00000543303.2:c.138C>G(p.%3D)
  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.124-129C>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.106-129C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-129C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2370C>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.120+2370C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-426C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-129C>G
  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.105-129C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala47Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-86585885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585885
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585885
    reference: chr 16
allele count: 1
allele frequency: 1.838370468416796e-5
allele num: 54396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.137C>T
  hgvsp: ENSP00000370612.5:p.Ala46Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2366C>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.124-133C>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.121-133C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-133C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.131C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.77C>T
  hgvsp: ENSP00000458104.1:p.Ala26Val
  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.106-133C>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.120+2366C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-133C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-133C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-133C>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.124-133C>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.120+2366C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-430C>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.134C>T
  hgvsp: ENSP00000444003.2:p.Ala45Val
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-133C>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.105-133C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala46Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-86585888-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585888
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585887
    reference: chr 16
allele count: 2
allele frequency: 3.782577448273254e-5
allele num: 52874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2362delC
  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.120+2362delC
  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.106-137delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.73delC
  hgvsp: ENSP00000458104.1:p.His25MetfsTer20
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-137delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-434delC
  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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.127delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-137delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-137delC
  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.121-137delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.133delC
  hgvsp: ENSP00000370612.5:p.His45MetfsTer20
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000444003
  ensembl transcript: ENST00000543303
  gene symbol: MTHFSD
  hgvsc: ENST00000543303.2:c.130delC
  hgvsp: ENSP00000444003.2:p.His44MetfsTer20
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-137delC
  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.124-137delC
  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.105-137delC
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-137delC
  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.120+2362delC
  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.124-137delC
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His45MetfsTer20
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: TG
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-86585896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585896
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585896
    reference: chr 16
allele count: 4
allele frequency: 8.823399655887414e-5
allele num: 45334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-144C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-441C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.66C>T
  hgvsp: ENST00000564364.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-144C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-144C>T
  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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.120C>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.123C>T
  hgvsp: ENST00000543303.2:c.123C>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.126C>T
  hgvsp: ENST00000381214.5:c.126C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-144C>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.121-144C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-144C>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.124-144C>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.120+2355C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-144C>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.124-144C>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2355C>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.120+2355C>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.106-144C>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.126C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

16-86585900-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585900
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585900
    reference: chr 16
allele count: 1
allele frequency: 2.320400965286802e-5
allele num: 43096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000370612
  ensembl transcript: ENST00000381214
  gene symbol: MTHFSD
  hgvsc: ENST00000381214.5:c.124-2A>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.-443-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2351A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-148A>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.124-148A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-148A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-2A>G
  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.120+2351A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-148A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-148A>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.120+2351A>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.121-2A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-148A>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.124-148A>G
  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.105-148A>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.106-148A>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.121-148A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.124-2A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-86585905-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585905
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585905
    reference: chr 16
allele count: 37892
allele frequency: 9.03007482960774e-1
allele num: 41962
alternate allele: A
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.124-7G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2346G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-153G>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.121-153G>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.120+2346G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-153G>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.106-153G>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.124-153G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-153G>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.120+2346G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-7G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-153G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-7G>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.-443-7G>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.121-7G>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.105-153G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-153G>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.124-153G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.25e1
  variant carriers: 2150
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 586
genotype quality: GenotypeQuality
hgvs: c.124-7G>T
num of homozygotes: 17065
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-86585908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585908
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585908
    reference: chr 16
allele count: 3
allele frequency: 1.177209229320358e-4
allele num: 25484
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.124-156T>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.124-156T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-156T>C
  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.105-156T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2343T>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.106-156T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-156T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-156T>C
  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.120+2343T>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.121-156T>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.120+2343T>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-10T>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.121-10T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-10T>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.-443-10T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-156T>C
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-156T>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.124-10T>C
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-86585909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585909
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585909
    reference: chr 16
allele count: 13
allele frequency: 5.099239036636072e-4
allele num: 25494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-157A>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.124-157A>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.124-11A>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.106-157A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-11A>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.121-11A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-157A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-157A>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.121-157A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-157A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-157A>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.-443-11A>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.120+2342A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-11A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2342A>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.124-157A>G
  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.105-157A>G
  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.120+2342A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-86585911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585911
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585911
    reference: chr 16
allele count: 1
allele frequency: 4.284123040013709e-5
allele num: 23342
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.121-159G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2340G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-13G>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.120+2340G>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.121-13G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-159G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-159G>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.124-13G>A
  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.105-159G>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.124-159G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-159G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-13G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-159G>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.106-159G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-159G>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.-443-13G>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.124-159G>A
  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.120+2340G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28823
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-86585912-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585912
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585912
    reference: chr 16
allele count: 1
allele frequency: 4.371011452050004e-5
allele num: 22878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-14T>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.124-160T>A
  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.120+2339T>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.106-160T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-160T>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.124-160T>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.-443-14T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-160T>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.120+2339T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-160T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-160T>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.121-160T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-160T>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.121-14T>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-14T>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.124-14T>A
  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.105-160T>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2339T>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/16-86585913-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585913
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585913
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 21544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000438761
  ensembl transcript: ENST00000546093
  gene symbol: MTHFSD
  hgvsc: ENST00000546093.1:c.-443-15T>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-15T>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.124-161T>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.124-161T>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.124-15T>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.121-15T>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.120+2338T>G
  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.120+2338T>G
  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.105-161T>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.121-161T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-161T>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-161T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-161T>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.106-161T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2338T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-161T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-15T>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-161T>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-86585915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585915
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585915
    reference: chr 16
allele count: 2
allele frequency: 9.657170449058426e-5
allele num: 20710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2336G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-163G>A
  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.105-163G>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.-443-17G>A
  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.120+2336G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-17G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-163G>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.121-17G>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.124-163G>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.121-163G>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.120+2336G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-163G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-163G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-17G>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.124-163G>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.124-17G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-163G>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.106-163G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

16-86585920-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585920
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585920
    reference: chr 16
allele count: 1
allele frequency: 5.54569653948536e-5
allele num: 18032
alternate allele: C
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.120+2331C>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.121-22C>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.121-168C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-168C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-168C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-22C>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.106-168C>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.124-168C>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.124-22C>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.-443-22C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-168C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2331C>G
  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.105-168C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-168C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-22C>G
  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.120+2331C>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.124-168C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-168C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31084
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-86585921-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585921
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585921
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 18052
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.120+2330A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-23A>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.106-169A>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.120+2330A>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.124-23A>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.-443-23A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-169A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-169A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-169A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-169A>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.121-23A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-169A>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.124-169A>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.105-169A>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.121-169A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2330A>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.124-169A>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-23A>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/16-86585924-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585924
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 17150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455940
  ensembl transcript: ENST00000566469
  gene symbol: MTHFSD
  hgvsc: ENST00000566469.1:c.105-172G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-172G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-172G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2327G>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.124-26G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-26G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-172G>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.121-172G>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.-443-26G>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.124-172G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-26G>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.120+2327G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-172G>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.106-172G>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.121-26G>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.120+2327G>T
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-172G>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.124-172G>T
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31387
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-86585924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585924
    reference: chr 16
allele count: 8
allele frequency: 4.664723032069971e-4
allele num: 17150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456652
  ensembl transcript: ENST00000562940
  gene symbol: MTHFSD
  hgvsc: ENST00000562940.2:c.106-172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-26G>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.121-26G>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.124-26G>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.124-172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2327G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-172G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-26G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-172G>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.121-172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-172G>A
  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.105-172G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-172G>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.124-172G>A
  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.120+2327G>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.120+2327G>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.-443-26G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31387
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-86585926-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585926
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585926
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 16630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454807
  ensembl transcript: ENST00000569000
  gene symbol: MTHFSD
  hgvsc: ENST00000569000.1:c.120+2325C>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.124-174C>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.124-28C>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.106-174C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2325C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-28C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-174C>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.121-174C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-174C>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.120+2325C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-174C>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.121-28C>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.-443-28C>G
  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.105-174C>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-174C>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-174C>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-28C>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.124-174C>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-86585933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585933
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585933
    reference: chr 16
allele count: 1
allele frequency: 6.886103842445945e-5
allele num: 14522
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.124-181G>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.120+2318G>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.121-181G>A
  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.105-181G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-35G>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.124-181G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-35G>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.124-35G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-181G>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.-443-35G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-181G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-181G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2318G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-181G>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.106-181G>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.121-35G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-181G>A
  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.120+2318G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-86585938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585938
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585938
    reference: chr 16
allele count: 2
allele frequency: 1.525087692542321e-4
allele num: 13114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-186G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-186G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-186G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2313G>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.121-40G>A
  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.105-186G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-40G>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.121-186G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-186G>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.124-40G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-186G>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.-443-40G>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.120+2313G>A
  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.120+2313G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-40G>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.124-186G>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.106-186G>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.124-186G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-86585941-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585941
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585941
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 12896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2310A>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.120+2310A>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.124-189A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-189A>G
  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.105-189A>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-189A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-189A>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.106-189A>G
  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.120+2310A>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.124-189A>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.121-43A>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.-443-43A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-189A>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.121-189A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-43A>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-43A>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.124-43A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-189A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

16-86585944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86585944
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86585944
    reference: chr 16
allele count: 1
allele frequency: 7.964319847085059e-5
allele num: 12556
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.124-46G>A
  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.105-192G>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.-443-46G>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: ENST00000561848
  gene symbol: MTHFSD
  hgvsc: ENST00000561848.1:n.463-192G>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.121-46G>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.124-192G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.64-192G>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.121-192G>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.120+2307G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.64-192G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-426-192G>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.124-192G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.64-46G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-443-192G>A
  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.120+2307G>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: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.118-46G>A
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+2307G>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.106-192G>A
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-86588201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86588201
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86588201
    reference: chr 16
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.117+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.63+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.63+50A>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.123+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.63+50A>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.123+50A>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.120+50A>G
  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.104+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-427+574A>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.-444+50A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-444+574A>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.120+50A>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.105+50A>G
  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.120+50A>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.120+50A>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.123+50A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-86588212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86588212
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 86588212
    reference: chr 16
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl transcript: ENST00000568037
  gene symbol: MTHFSD
  hgvsc: ENST00000568037.1:n.117+39A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000457794
  ensembl transcript: ENST00000565482
  gene symbol: MTHFSD
  hgvsc: ENST00000565482.1:c.63+39A>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.123+39A>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.120+39A>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.120+39A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455262
  ensembl transcript: ENST00000568798
  gene symbol: MTHFSD
  hgvsc: ENST00000568798.1:c.123+39A>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.123+39A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000456628
  ensembl transcript: ENST00000562994
  gene symbol: MTHFSD
  hgvsc: ENST00000562994.1:c.-444+563A>G
  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.104+39A>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.123+39A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000454429
  ensembl transcript: ENST00000561522
  gene symbol: MTHFSD
  hgvsc: ENST00000561522.1:c.-427+563A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000458104
  ensembl transcript: ENST00000564364
  gene symbol: MTHFSD
  hgvsc: ENST00000564364.1:c.63+39A>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.120+39A>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.-444+39A>G
  variant of: http://identifiers.org/hgnc/25778
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103248
  ensembl protein: ENSP00000455208
  ensembl transcript: ENST00000561989
  gene symbol: MTHFSD
  hgvsc: ENST00000561989.1:c.63+39A>G
  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.120+39A>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.105+39A>G
  variant of: http://identifiers.org/hgnc/25778
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 708
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2109
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12044
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11924
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43398
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7492
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5344
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 1
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.01e0

DP
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InbreedingCoeff
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SIO_000300: 8.0e-4

BaseQRankSum
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SIO_000300: -5.99e-1

MQRankSum
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SIO_000300: 5.42e-1

ClippingRankSum
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SIO_000300: -7.72e-1

QD
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SIO_000300: 1.582e1

FS
type: SiteQuality
SIO_000300: 1.74e0

MQ
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SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 37

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 50

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 43

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

European (Non-Finnish)
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allele count: 3120
allele frequency: 4.677380666826577e-2
allele num: 66704
num of homozygotes: 101

Other
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Latino
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allele frequency: 2.349689011748445e-2
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European (Finnish)
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allele frequency: 2.192319322648927e-2
allele num: 6614
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South Asian
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allele frequency: 2.556026650514839e-2
allele num: 16510
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African
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East Asian
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allele frequency: 6.493506493506494e-3
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.16e-1

BaseQRankSum
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DP
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SIO_000300: 2.216198e6

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.49e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 46058
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 7.44e0

InbreedingCoeff
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SIO_000300: 2.2e-3

ClippingRankSum
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SIO_000300: -2.9e-1

DP
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QD
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FS
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SIO_000300: 4.84e0

ReadPosRankSum
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SIO_000300: 1.05e0

VQSLOD
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SIO_000300: 1.77e-1

MQRankSum
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SIO_000300: 1.02e0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
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allele num: 9802
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East Asian
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allele count: 0
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European (Finnish)
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.743e1

InbreedingCoeff
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SIO_000300: 2.2e-3

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

South Asian
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Other
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.02e0

BaseQRankSum
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SIO_000300: 3.08e0

QD
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SIO_000300: 1.452e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66690
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Other
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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QD
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
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European (Finnish)
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East Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.506e1

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

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

Other
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 6.912044237083118e-4
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num of homozygotes: 0

European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Latino
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 2.399664047033415e-4
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 66646
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East Asian
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African
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South Asian
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European (Finnish)
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MQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.306165099268548e-4
allele num: 7656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 6.845904904157331e-4
allele num: 16068
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.536674e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

InbreedingCoeff
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SIO_000300: -3.3e-3

QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 1

GenotypeDepth
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bin: 7.5e0
variant carriers: 1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.595000989250148e-5
allele num: 60652
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -7.87e-1

QD
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ReadPosRankSum
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MQRankSum
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DP
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SIO_000300: 1.507146e6

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.75e0

InbreedingCoeff
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SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 971
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.736593498193943e-4
allele num: 57584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.398231e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.585e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 457
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.233306318052081e-4
allele num: 56758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.66e0

DP
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SIO_000300: 1.369685e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
all individuals: 141
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.712232167073502e-4
allele num: 7374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.041899783558623e-5
allele num: 48974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.261773217574323e-4
allele num: 7602
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 8.54e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 2895
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GenotypeQuality
all individuals: 473
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variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 6.885155604516662e-4
allele num: 7262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.235025318019019e-4
allele num: 48582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

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

European (Finnish)
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Other
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African
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East Asian
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Latino
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 44186
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 5.246589716684155e-4
allele num: 1906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.35719e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -4.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 125

GenotypeDepth
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variant carriers: 95

GenotypeDepth
all individuals: 1048
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variant carriers: 1025

GenotypeDepth
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variant carriers: 7727

GenotypeDepth
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variant carriers: 256

GenotypeDepth
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variant carriers: 322

GenotypeDepth
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variant carriers: 4075

GenotypeDepth
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GenotypeDepth
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variant carriers: 9864

GenotypeDepth
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variant carriers: 136

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 569

GenotypeQuality
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GenotypeQuality
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variant carriers: 557

GenotypeQuality
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variant carriers: 4280

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8809

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1385

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2805

GenotypeQuality
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GenotypeQuality
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variant carriers: 7128

African
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allele count: 3509
allele frequency: 8.737549800796812e-1
allele num: 4016
num of homozygotes: 1523

European (Finnish)
type: Population
allele count: 1857
allele frequency: 9.591942148760331e-1
allele num: 1936
num of homozygotes: 890

East Asian
type: Population
allele count: 1509
allele frequency: 8.439597315436241e-1
allele num: 1788
num of homozygotes: 635

Other
type: Population
allele count: 358
allele frequency: 9.040404040404041e-1
allele num: 396
num of homozygotes: 163

Latino
type: Population
allele count: 1627
allele frequency: 9.223356009070295e-1
allele num: 1764
num of homozygotes: 752

European (Non-Finnish)
type: Population
allele count: 19905
allele frequency: 9.002713704206241e-1
allele num: 22110
num of homozygotes: 8932

South Asian
type: Population
allele count: 9127
allele frequency: 9.171020900321544e-1
allele num: 9952
num of homozygotes: 4170

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
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SIO_000300: -1.231e0

InbreedingCoeff
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SIO_000300: 1.889e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 3.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 7.09e0

DP
type: SiteQuality
SIO_000300: 6.89919e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 538
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GenotypeQuality
all individuals: 47
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 9.107468123861566e-4
allele num: 1098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.488095238095238e-4
allele num: 13440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.873e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 4.31379e5

GenotypeDepth
all individuals: 7554
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variant carriers: 5

GenotypeDepth
all individuals: 13313
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variant carriers: 6

GenotypeDepth
all individuals: 191
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variant carriers: 0

GenotypeDepth
all individuals: 43
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variant carriers: 0

GenotypeDepth
all individuals: 922
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GenotypeDepth
all individuals: 79
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GenotypeDepth
all individuals: 222
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 2290
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 70
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.452675510508272e-5
allele num: 13418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.967858314201377e-3
allele num: 6098
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.261e-1

FS
type: SiteQuality
SIO_000300: 7.412e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.58e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 3.05e-1

BaseQRankSum
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SIO_000300: -2.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 4.30557e5

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 167
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.681885125184094e-4
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.12893e5

QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.4564e1

MQRankSum
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SIO_000300: 1.06e-1

MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

VQSLOD
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SIO_000300: -2.208e0

ReadPosRankSum
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SIO_000300: 2.65e0

ClippingRankSum
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SIO_000300: -1.164e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 78
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GenotypeQuality
all individuals: 162
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.789549033643522e-4
allele num: 5588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 6.864e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.06196e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Non-Finnish)
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East Asian
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Other
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Latino
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South Asian
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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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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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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African
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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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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European (Finnish)
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African
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South Asian
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Latino
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East Asian
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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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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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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MQ
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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South Asian
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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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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European (Non-Finnish)
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African
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Other
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Latino
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European (Finnish)
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East Asian
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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VQSLOD
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QD
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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ClippingRankSum
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VQSLOD
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MQ
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DP
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeDepth
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1269
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3150
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5085
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 528
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1186
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1299
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14090
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.232584e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.597e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.56e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

GenotypeDepth
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14794
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5085
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5337
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13871
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8163
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14088
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2859
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4652
bin: 7.75e1
variant carriers: 0