2-47135125-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135125
    reference: chr 2
allele count: 5
allele frequency: 4.131685066437496e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2392T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2392T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1143A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-17T>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-47135132-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135132
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135132
    reference: chr 2
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2399C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1150G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2399C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-24C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-24C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-47135137-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135137
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135137
    reference: chr 2
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2404T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1155A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2404T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-29T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-29T>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-47135148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135148
    reference: chr 2
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1166C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2415G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2415G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-40G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-40G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

2-47135157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135157
    reference: chr 2
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1175T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2424A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2424A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-49A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-47135158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47135158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47135158
    reference: chr 2
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228925
  ensembl transcript: ENST00000429761
  gene symbol: AC016722.4
  hgvsc: ENST00000429761.1:n.1176G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.51-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-2425C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.225-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.150-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.299-50C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-2425C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-47136111-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136111
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136111
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.362C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1003C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3378C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1003C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1003C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3378C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1003C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+51C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+51C>A
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-47136120-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136120
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.353C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1012C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1012C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1012C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3387C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3387C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+42C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1012C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-47136129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136129
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3396C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1021C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1021C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.344C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1021C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1021C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3396C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+33C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

2-47136129-GCCACTGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136121
    reference: chr 2
allele count: 31
allele frequency: 2.555057365158908e-4
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.336_343delTCCAGTGG
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30152
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GCCACTGGA
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-47136131-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136131
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136131
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3398G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.342G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3398G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1023G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1023G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+31G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1023G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1023G>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/2-47136139-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136139
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136139
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3406G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1031G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1031G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1031G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1031G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.334G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+23G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3406G>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-47136147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136147
    reference: chr 2
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1039C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3414C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1039C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.326C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3414C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1039C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1039C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+15C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-47136150-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136150
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3417G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1042G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1042G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1042G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1042G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3417G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.323G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+12G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+12G>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-47136150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136150
    reference: chr 2
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1042G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1042G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1042G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3417G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1042G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.323G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3417G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+12G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+12G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-47136157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136157
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3424G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1049G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.316G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1049G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1049G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1049G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+5G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3424G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.149+5G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47136158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136158
    reference: chr 2
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1050C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3425C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.315C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1050C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1050C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+4C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3425C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1050C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.149+4C>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-47136159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136159
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3426A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3426A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1051A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1051A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1051A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.314A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1051A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149+3A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.149+3A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-47136162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136162
    reference: chr 2
allele count: 7
allele frequency: 5.768153202149049e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.149A>G
  hgvsp: ENSP00000402717.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.311A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.149A>G
  hgvsp: ENSP00000387541.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.149A>G
  hgvsp: ENSP00000386386.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3429A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.149A>G
  hgvsp: ENSP00000386651.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.50A>G
  hgvsp: ENSP00000387360.1:p.Glu17Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.298A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.149A>G
  hgvsp: ENSP00000386279.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1054A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.224A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.149A>G
  hgvsp: ENSP00000317271.4:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1054A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1054A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1054A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3429A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.149A>G
  hgvsp: ENSP00000386261.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Glu50Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

2-47136164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136164
    reference: chr 2
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.296A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.48A>G
  hgvsp: ENST00000434262.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.147A>G
  hgvsp: ENST00000409973.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.147A>G
  hgvsp: ENST00000412438.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.147A>G
  hgvsp: ENST00000319466.4:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3431A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.222A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.147A>G
  hgvsp: ENST00000409218.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3431A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1056A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1056A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.147A>G
  hgvsp: ENST00000409207.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1056A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.309A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.147A>G
  hgvsp: ENST00000417180.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.147A>G
  hgvsp: ENST00000409105.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1056A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.147A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-47136170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136170
    reference: chr 2
allele count: 5
allele frequency: 4.120245236996506e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.216C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.141C>T
  hgvsp: ENST00000409973.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.141C>T
  hgvsp: ENST00000409218.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.141C>T
  hgvsp: ENST00000319466.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3437C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3437C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.141C>T
  hgvsp: ENST00000409207.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.141C>T
  hgvsp: ENST00000417180.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.42C>T
  hgvsp: ENST00000434262.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.303C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.290C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1062C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.141C>T
  hgvsp: ENST00000409105.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1062C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1062C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.141C>T
  hgvsp: ENST00000412438.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1062C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His47His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

2-47136170-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136170
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.290C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1062C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1062C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1062C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.141C>A
  hgvsp: ENSP00000402717.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1062C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.141C>A
  hgvsp: ENSP00000317271.4:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.141C>A
  hgvsp: ENSP00000387541.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.141C>A
  hgvsp: ENSP00000386651.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.216C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.141C>A
  hgvsp: ENSP00000386279.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.141C>A
  hgvsp: ENSP00000386386.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.141C>A
  hgvsp: ENSP00000386261.1:p.His47Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.303C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.42C>A
  hgvsp: ENSP00000387360.1:p.His14Gln
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3437C>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3437C>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His47Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-47136172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136172
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1064C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3439C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.301C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.139C>G
  hgvsp: ENSP00000387541.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.139C>G
  hgvsp: ENSP00000402717.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.288C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.139C>G
  hgvsp: ENSP00000386279.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3439C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1064C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.139C>G
  hgvsp: ENSP00000386651.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.40C>G
  hgvsp: ENSP00000387360.1:p.His14Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.139C>G
  hgvsp: ENSP00000386386.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.139C>G
  hgvsp: ENSP00000317271.4:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1064C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1064C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.139C>G
  hgvsp: ENSP00000386261.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.214C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His47Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-47136173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136173
    reference: chr 2
allele count: 10
allele frequency: 8.240354664864775e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.138G>A
  hgvsp: ENST00000417180.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.138G>A
  hgvsp: ENST00000409207.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.213G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.138G>A
  hgvsp: ENST00000412438.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1065G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1065G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.300G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.138G>A
  hgvsp: ENST00000409218.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3440G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.138G>A
  hgvsp: ENST00000409973.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1065G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.138G>A
  hgvsp: ENST00000319466.4:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.39G>A
  hgvsp: ENST00000434262.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.138G>A
  hgvsp: ENST00000409105.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3440G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.287G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1065G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val46Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-47136174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136174
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.137T>C
  hgvsp: ENSP00000386651.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.38T>C
  hgvsp: ENSP00000387360.1:p.Val13Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1066T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.137T>C
  hgvsp: ENSP00000386386.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.137T>C
  hgvsp: ENSP00000387541.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.137T>C
  hgvsp: ENSP00000317271.4:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.212T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3441T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.137T>C
  hgvsp: ENSP00000386279.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1066T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3441T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.286T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.299T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.137T>C
  hgvsp: ENSP00000402717.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.137T>C
  hgvsp: ENSP00000386261.1:p.Val46Ala
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1066T>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1066T>C
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val46Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-47136176-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136175
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.134delC
  hgvsp: ENSP00000386279.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.134delC
  hgvsp: ENSP00000387541.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.134delC
  hgvsp: ENSP00000386261.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.134delC
  hgvsp: ENSP00000317271.4:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.134delC
  hgvsp: ENSP00000386386.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.134delC
  hgvsp: ENSP00000402717.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.296delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.134delC
  hgvsp: ENSP00000386651.1:p.Thr45LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1069delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.283delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.35delC
  hgvsp: ENSP00000387360.1:p.Thr12LysfsTer12
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3444delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.209delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1069delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1069delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3444delC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1069delC
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr45LysfsTer12
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: TG
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-47136177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136177
    reference: chr 2
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.209C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.134C>T
  hgvsp: ENSP00000386651.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1069C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.134C>T
  hgvsp: ENSP00000402717.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.35C>T
  hgvsp: ENSP00000387360.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.134C>T
  hgvsp: ENSP00000386386.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1069C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1069C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.296C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3444C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.134C>T
  hgvsp: ENSP00000317271.4:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.134C>T
  hgvsp: ENSP00000386261.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.134C>T
  hgvsp: ENSP00000387541.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1069C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.134C>T
  hgvsp: ENSP00000386279.1:p.Thr45Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3444C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.283C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr45Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-47136184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136184
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1076A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.127A>G
  hgvsp: ENSP00000386261.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3451A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1076A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.289A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.127A>G
  hgvsp: ENSP00000386386.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1076A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.127A>G
  hgvsp: ENSP00000317271.4:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.127A>G
  hgvsp: ENSP00000386279.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.127A>G
  hgvsp: ENSP00000387541.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.127A>G
  hgvsp: ENSP00000386651.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.202A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.276A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3451A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.127A>G
  hgvsp: ENSP00000402717.1:p.Lys43Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.28A>G
  hgvsp: ENSP00000387360.1:p.Lys10Glu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1076A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys43Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-47136186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136186
    reference: chr 2
allele count: 7
allele frequency: 5.768628549766783e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.125A>G
  hgvsp: ENSP00000317271.4:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.287A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1078A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.125A>G
  hgvsp: ENSP00000386651.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.200A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1078A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3453A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.125A>G
  hgvsp: ENSP00000386386.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.125A>G
  hgvsp: ENSP00000386279.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1078A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.125A>G
  hgvsp: ENSP00000402717.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.125A>G
  hgvsp: ENSP00000387541.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.125A>G
  hgvsp: ENSP00000386261.1:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1078A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.26A>G
  hgvsp: ENSP00000387360.1:p.Asp9Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3453A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.274A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp42Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-47136196-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136196
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.115A>C
  hgvsp: ENSP00000386279.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3463A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.115A>C
  hgvsp: ENSP00000386651.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.115A>C
  hgvsp: ENSP00000317271.4:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.264A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.115A>C
  hgvsp: ENSP00000387541.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.115A>C
  hgvsp: ENSP00000386386.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3463A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.16A>C
  hgvsp: ENSP00000387360.1:p.Met6Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1088A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.115A>C
  hgvsp: ENSP00000386261.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.277A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1088A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.190A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.115A>C
  hgvsp: ENSP00000402717.1:p.Met39Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1088A>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1088A>C
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met39Leu
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: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-47136202-CGGGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136197
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1099_-7-1095delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.179_183delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1099_93-1095delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.104_108delAACCC
  hgvsp: ENSP00000387541.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.104_108delAACCC
  hgvsp: ENSP00000386261.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1099_-7-1095delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.104_108delAACCC
  hgvsp: ENSP00000386651.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.104_108delAACCC
  hgvsp: ENSP00000386386.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3474_68-3470delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.104_108delAACCC
  hgvsp: ENSP00000317271.4:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.266_270delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.104_108delAACCC
  hgvsp: ENSP00000402717.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.253_257delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.104_108delAACCC
  hgvsp: ENSP00000386279.1:p.Gln35ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.5_9delAACCC
  hgvsp: ENSP00000387360.1:p.Gln2ArgfsTer7
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1099_-7-1095delAACCC
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3474_203-3470delAACCC
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln35ArgfsTer7
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: CGGGTT
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-47136203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136203
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.108C>T
  hgvsp: ENST00000417180.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.108C>T
  hgvsp: ENST00000409207.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.108C>T
  hgvsp: ENST00000409105.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.108C>T
  hgvsp: ENST00000409218.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1095C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.108C>T
  hgvsp: ENST00000319466.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3470C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.108C>T
  hgvsp: ENST00000412438.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.9C>T
  hgvsp: ENST00000434262.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1095C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.108C>T
  hgvsp: ENST00000409973.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.257C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1095C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.270C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3470C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.183C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1095C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro36Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-47136203-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136203
    reference: chr 2
allele count: 10
allele frequency: 8.242528148233626e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1095C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.183C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.108C>G
  hgvsp: ENST00000319466.4:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.108C>G
  hgvsp: ENST00000412438.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1095C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1095C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.108C>G
  hgvsp: ENST00000409973.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.257C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.108C>G
  hgvsp: ENST00000409218.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.108C>G
  hgvsp: ENST00000409207.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.270C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.108C>G
  hgvsp: ENST00000409105.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3470C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.108C>G
  hgvsp: ENST00000417180.1:c.108C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3470C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.9C>G
  hgvsp: ENST00000434262.1:c.9C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1095C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro36Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

2-47136205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136205
    reference: chr 2
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.255C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.181C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.268C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1097C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.106C>T
  hgvsp: ENSP00000317271.4:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1097C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.106C>T
  hgvsp: ENSP00000386261.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.106C>T
  hgvsp: ENSP00000386651.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.106C>T
  hgvsp: ENSP00000387541.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.7C>T
  hgvsp: ENSP00000387360.1:p.Pro3Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.106C>T
  hgvsp: ENSP00000386386.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1097C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.106C>T
  hgvsp: ENSP00000386279.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3472C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1097C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3472C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.106C>T
  hgvsp: ENSP00000402717.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro36Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

2-47136206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136206
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.105A>G
  hgvsp: ENST00000417180.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.105A>G
  hgvsp: ENST00000409218.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.267A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1098A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3473A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.6A>G
  hgvsp: ENST00000434262.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.105A>G
  hgvsp: ENST00000409105.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.105A>G
  hgvsp: ENST00000409207.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.180A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1098A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.105A>G
  hgvsp: ENST00000319466.4:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.254A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.105A>G
  hgvsp: ENST00000409973.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1098A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1098A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.105A>G
  hgvsp: ENST00000412438.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3473A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln35Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-47136210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136210
    reference: chr 2
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.101C>T
  hgvsp: ENSP00000317271.4:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1102C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.101C>T
  hgvsp: ENSP00000386386.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.263C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.101C>T
  hgvsp: ENSP00000387541.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.250C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1102C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.101C>T
  hgvsp: ENSP00000386279.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.101C>T
  hgvsp: ENSP00000386651.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.101C>T
  hgvsp: ENSP00000386261.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3477C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387360
  ensembl transcript: ENST00000434262
  gene symbol: MCFD2
  hgvsc: ENST00000434262.1:c.2C>T
  hgvsp: ENSP00000387360.1:p.Ser1?
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1102C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.101C>T
  hgvsp: ENSP00000402717.1:p.Ser34Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3477C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1102C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1?
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-47136215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136215
    reference: chr 2
allele count: 9
allele frequency: 7.42035485785898e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1107C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3482C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.96C>T
  hgvsp: ENST00000409105.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1107C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.171C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.96C>T
  hgvsp: ENST00000409207.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.96C>T
  hgvsp: ENST00000412438.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.96C>T
  hgvsp: ENST00000409973.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.96C>T
  hgvsp: ENST00000417180.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1107C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.96C>T
  hgvsp: ENST00000319466.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.258C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3482C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.245C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1107C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.96C>T
  hgvsp: ENST00000409218.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-47136216-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136216
    reference: chr 2
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.95G>T
  hgvsp: ENSP00000386386.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.257G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.95G>T
  hgvsp: ENSP00000317271.4:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1108G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3483G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.95G>T
  hgvsp: ENSP00000386279.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1108G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.244G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.95G>T
  hgvsp: ENSP00000386651.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3483G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.95G>T
  hgvsp: ENSP00000387541.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.95G>T
  hgvsp: ENSP00000402717.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1108G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.95G>T
  hgvsp: ENSP00000386261.1:p.Ser32Ile
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1108G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.170G>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-47136223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136223
    reference: chr 2
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.88G>A
  hgvsp: ENSP00000386261.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.88G>A
  hgvsp: ENSP00000386651.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.88G>A
  hgvsp: ENSP00000386279.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.88G>A
  hgvsp: ENSP00000386386.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.88G>A
  hgvsp: ENSP00000317271.4:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.250G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.88G>A
  hgvsp: ENSP00000402717.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1115G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3490G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1115G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.163G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3490G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1115G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.88G>A
  hgvsp: ENSP00000387541.1:p.Ala30Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1115G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.237G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala30Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-47136229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136229
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136229
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.82G>T
  hgvsp: ENSP00000386651.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.82G>T
  hgvsp: ENSP00000387541.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.244G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.82G>T
  hgvsp: ENSP00000386386.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1121G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.82G>T
  hgvsp: ENSP00000317271.4:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1121G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.82G>T
  hgvsp: ENSP00000386261.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.82G>T
  hgvsp: ENSP00000402717.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3496G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.157G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1121G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.82G>T
  hgvsp: ENSP00000386279.1:p.Glu28Ter
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3496G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.231G>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1121G>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu28Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-47136238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136238
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1130A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.73A>G
  hgvsp: ENSP00000386279.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.73A>G
  hgvsp: ENSP00000402717.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.148A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.73A>G
  hgvsp: ENSP00000386386.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.73A>G
  hgvsp: ENSP00000387541.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1130A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1130A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3505A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1130A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.73A>G
  hgvsp: ENSP00000386651.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.222A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.235A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3505A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.73A>G
  hgvsp: ENSP00000386261.1:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.73A>G
  hgvsp: ENSP00000317271.4:p.Arg25Gly
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg25Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

2-47136241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136241
    reference: chr 2
allele count: 5
allele frequency: 4.132982856387112e-5
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1133G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.232G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1133G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3508G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.70G>A
  hgvsp: ENSP00000386386.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.70G>A
  hgvsp: ENSP00000387541.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.70G>A
  hgvsp: ENSP00000317271.4:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.219G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.70G>A
  hgvsp: ENSP00000386651.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.70G>A
  hgvsp: ENSP00000386279.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1133G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.70G>A
  hgvsp: ENSP00000402717.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.70G>A
  hgvsp: ENSP00000386261.1:p.Ala24Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1133G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.145G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3508G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala24Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47136242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136242
    reference: chr 2
allele count: 31
allele frequency: 2.562957818674868e-4
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.69C>T
  hgvsp: ENST00000409207.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.231C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.69C>T
  hgvsp: ENST00000409105.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3509C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.69C>T
  hgvsp: ENST00000412438.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.69C>T
  hgvsp: ENST00000409218.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.69C>T
  hgvsp: ENST00000319466.4:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.69C>T
  hgvsp: ENST00000417180.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1134C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1134C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1134C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.144C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1134C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.218C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.69C>T
  hgvsp: ENST00000409973.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3509C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Gly
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-47136244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136244
    reference: chr 2
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1136G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1136G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.229G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1136G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.67G>A
  hgvsp: ENSP00000317271.4:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.67G>A
  hgvsp: ENSP00000386386.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.67G>A
  hgvsp: ENSP00000402717.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.67G>A
  hgvsp: ENSP00000386261.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.67G>A
  hgvsp: ENSP00000386651.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.67G>A
  hgvsp: ENSP00000386279.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.67G>A
  hgvsp: ENSP00000387541.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.142G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3511G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1136G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.216G>A
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3511G>A
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-47136245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136245
    reference: chr 2
allele count: 11
allele frequency: 9.099331612732446e-5
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.66A>G
  hgvsp: ENST00000409218.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.141A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.66A>G
  hgvsp: ENST00000319466.4:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.66A>G
  hgvsp: ENST00000409973.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1137A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3512A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.66A>G
  hgvsp: ENST00000417180.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.66A>G
  hgvsp: ENST00000409105.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.66A>G
  hgvsp: ENST00000412438.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.66A>G
  hgvsp: ENST00000409207.1:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.228A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1137A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.215A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3512A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1137A>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1137A>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro22Pro
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-47136246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136246
    reference: chr 2
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.65C>T
  hgvsp: ENSP00000386651.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1138C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.65C>T
  hgvsp: ENSP00000387541.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.214C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.65C>T
  hgvsp: ENSP00000386386.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.65C>T
  hgvsp: ENSP00000386279.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.65C>T
  hgvsp: ENSP00000317271.4:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1138C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.140C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1138C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.227C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.65C>T
  hgvsp: ENSP00000386261.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.65C>T
  hgvsp: ENSP00000402717.1:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3513C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1138C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3513C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro22Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

2-47136247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136247
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3514C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1139C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.64C>T
  hgvsp: ENSP00000386386.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.64C>T
  hgvsp: ENSP00000317271.4:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.64C>T
  hgvsp: ENSP00000386261.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.64C>T
  hgvsp: ENSP00000386279.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3514C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.213C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1139C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.139C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.64C>T
  hgvsp: ENSP00000387541.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1139C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.64C>T
  hgvsp: ENSP00000386651.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.226C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1139C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.64C>T
  hgvsp: ENSP00000402717.1:p.Pro22Ser
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro22Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-47136257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136257
    reference: chr 2
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.54C>T
  hgvsp: ENST00000409973.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3524C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.203C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.54C>T
  hgvsp: ENST00000409105.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.54C>T
  hgvsp: ENST00000412438.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.54C>T
  hgvsp: ENST00000409218.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1149C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.54C>T
  hgvsp: ENST00000409207.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.54C>T
  hgvsp: ENST00000319466.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1149C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1149C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.54C>T
  hgvsp: ENST00000417180.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3524C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.129C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.216C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1149C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala18Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

2-47136261-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136261
    reference: chr 2
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1153G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3528G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.50G>C
  hgvsp: ENSP00000386386.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.125G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.50G>C
  hgvsp: ENSP00000402717.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.50G>C
  hgvsp: ENSP00000386651.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.50G>C
  hgvsp: ENSP00000317271.4:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.199G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1153G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.212G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.50G>C
  hgvsp: ENSP00000386279.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1153G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3528G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.50G>C
  hgvsp: ENSP00000387541.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1153G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.50G>C
  hgvsp: ENSP00000386261.1:p.Trp17Ser
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp17Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-47136263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136263
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136263
    reference: chr 2
allele count: 2
allele frequency: 1.669031127430527e-5
allele num: 119830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1155C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.123C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.48C>T
  hgvsp: ENST00000319466.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.48C>T
  hgvsp: ENST00000409105.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3530C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.48C>T
  hgvsp: ENST00000417180.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.48C>T
  hgvsp: ENST00000409973.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.197C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1155C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.48C>T
  hgvsp: ENST00000409218.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.48C>T
  hgvsp: ENST00000409207.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1155C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.210C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.48C>T
  hgvsp: ENST00000412438.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1155C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3530C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu16Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-47136269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136269
    reference: chr 2
allele count: 1
allele frequency: 8.391373667869429e-6
allele num: 119170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.42C>T
  hgvsp: ENST00000409105.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.42C>T
  hgvsp: ENST00000412438.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.42C>T
  hgvsp: ENST00000417180.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3536C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1161C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.42C>T
  hgvsp: ENST00000409218.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.191C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1161C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3536C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.42C>T
  hgvsp: ENST00000319466.4:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.42C>T
  hgvsp: ENST00000409207.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.42C>T
  hgvsp: ENST00000409973.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.117C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.204C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1161C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1161C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly14Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

2-47136275-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136275
    reference: chr 2
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.36G>C
  hgvsp: ENST00000319466.4:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.36G>C
  hgvsp: ENST00000409973.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.36G>C
  hgvsp: ENST00000417180.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.36G>C
  hgvsp: ENST00000409105.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1167G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3542G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.36G>C
  hgvsp: ENST00000409207.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1167G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.111G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1167G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.185G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.36G>C
  hgvsp: ENST00000409218.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.36G>C
  hgvsp: ENST00000412438.1:c.36G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1167G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3542G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.198G>C
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu12Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

2-47136284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136284
    reference: chr 2
allele count: 1
allele frequency: 8.616084506556841e-6
allele num: 116062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.102C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.27C>T
  hgvsp: ENST00000417180.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.27C>T
  hgvsp: ENST00000409218.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.27C>T
  hgvsp: ENST00000409105.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.27C>T
  hgvsp: ENST00000412438.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.189C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.27C>T
  hgvsp: ENST00000409207.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.27C>T
  hgvsp: ENST00000409973.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.27C>T
  hgvsp: ENST00000319466.4:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3551C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3551C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr9Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-47136288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136288
    reference: chr 2
allele count: 1
allele frequency: 8.726764988218868e-6
allele num: 114590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.98G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.23G>C
  hgvsp: ENSP00000402717.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1180G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.23G>C
  hgvsp: ENSP00000386261.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.185G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.23G>C
  hgvsp: ENSP00000386386.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.23G>C
  hgvsp: ENSP00000386279.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.23G>C
  hgvsp: ENSP00000317271.4:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1180G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1180G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.23G>C
  hgvsp: ENSP00000387541.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.172G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3555G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3555G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.23G>C
  hgvsp: ENSP00000386651.1:p.Arg8Thr
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1180G>C
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-47136290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136290
    reference: chr 2
allele count: 1
allele frequency: 8.778552241164388e-6
allele num: 113914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1182C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.170C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.21C>T
  hgvsp: ENST00000319466.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.21C>T
  hgvsp: ENST00000409207.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.21C>T
  hgvsp: ENST00000409973.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.21C>T
  hgvsp: ENST00000417180.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.21C>T
  hgvsp: ENST00000409105.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3557C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.21C>T
  hgvsp: ENST00000412438.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1182C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.96C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.21C>T
  hgvsp: ENST00000409218.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.183C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1182C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3557C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1182C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu7Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-47136290-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136290
    reference: chr 2
allele count: 1
allele frequency: 8.778552241164388e-6
allele num: 113914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.183C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3557C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.21C>G
  hgvsp: ENST00000409207.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.21C>G
  hgvsp: ENST00000319466.4:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.21C>G
  hgvsp: ENST00000412438.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.96C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1182C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.21C>G
  hgvsp: ENST00000417180.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1182C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3557C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.21C>G
  hgvsp: ENST00000409973.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.170C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.21C>G
  hgvsp: ENST00000409218.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.21C>G
  hgvsp: ENST00000409105.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1182C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1182C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu7Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-47136294-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136294
    reference: chr 2
allele count: 46
allele frequency: 4.088162104514753e-4
allele num: 112520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.17T>G
  hgvsp: ENSP00000317271.4:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.17T>G
  hgvsp: ENSP00000386261.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.17T>G
  hgvsp: ENSP00000386386.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.17T>G
  hgvsp: ENSP00000386651.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1186T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.166T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.17T>G
  hgvsp: ENSP00000386279.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1186T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3561T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.17T>G
  hgvsp: ENSP00000387541.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.179T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1186T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1186T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.92T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3561T>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.17T>G
  hgvsp: ENSP00000402717.1:p.Leu6Arg
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24061
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Leu6Arg
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-47136297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136297
    reference: chr 2
allele count: 1
allele frequency: 8.997660608241856e-6
allele num: 111140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.14C>T
  hgvsp: ENSP00000386386.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.176C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1189C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.14C>T
  hgvsp: ENSP00000386261.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.14C>T
  hgvsp: ENSP00000386279.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3564C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1189C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.14C>T
  hgvsp: ENSP00000402717.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.14C>T
  hgvsp: ENSP00000387541.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.89C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1189C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.14C>T
  hgvsp: ENSP00000317271.4:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1189C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3564C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.163C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.14C>T
  hgvsp: ENSP00000386651.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-47136300-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136299
    reference: chr 2
allele count: 1
allele frequency: 9.110621162150835e-6
allele num: 109762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.159delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.10delA
  hgvsp: ENSP00000317271.4:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.10delA
  hgvsp: ENSP00000386279.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.10delA
  hgvsp: ENSP00000402717.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3568delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.10delA
  hgvsp: ENSP00000387541.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1193delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.10delA
  hgvsp: ENSP00000386386.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.172delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.10delA
  hgvsp: ENSP00000386651.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.85delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.10delA
  hgvsp: ENSP00000386261.1:p.Arg4AspfsTer53
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3568delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1193delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1193delA
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1193delA
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg4AspfsTer53
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-47136317-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136317
    reference: chr 2
allele count: 1
allele frequency: 9.859793733115103e-6
allele num: 101422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.144-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.157-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.70-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1209G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1209G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.-6-1G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3584G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1209G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3584G>C
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1209G>C
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-6-1G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-47136319-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136319
    reference: chr 2
allele count: 7
allele frequency: 6.961018297533811e-5
allele num: 100560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3586C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.144-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1211C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1211C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1211C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.70-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1211C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.-6-3C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3586C>G
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.157-3C>G
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.-6-3C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-47136321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136321
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136321
    reference: chr 2
allele count: 1
allele frequency: 1.003532434168272e-5
allele num: 99648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3588C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1213C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.144-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.70-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.157-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1213C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3588C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1213C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.-6-5C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1213C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-6-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47136327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47136327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47136327
    reference: chr 2
allele count: 1
allele frequency: 1.031119176754449e-5
allele num: 96982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386279
  ensembl transcript: ENST00000409973
  gene symbol: MCFD2
  hgvsc: ENST00000409973.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000487121
  gene symbol: MCFD2
  hgvsc: ENST00000487121.1:n.157-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386386
  ensembl transcript: ENST00000409207
  gene symbol: MCFD2
  hgvsc: ENST00000409207.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000394647
  ensembl transcript: ENST00000444761
  gene symbol: MCFD2
  hgvsc: ENST00000444761.2:c.93-1219C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386261
  ensembl transcript: ENST00000409218
  gene symbol: MCFD2
  hgvsc: ENST00000409218.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000402717
  ensembl transcript: ENST00000412438
  gene symbol: MCFD2
  hgvsc: ENST00000412438.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387202
  ensembl transcript: ENST00000409800
  gene symbol: MCFD2
  hgvsc: ENST00000409800.1:c.-7-1219C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000479225
  gene symbol: MCFD2
  hgvsc: ENST00000479225.1:n.144-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386941
  ensembl transcript: ENST00000409913
  gene symbol: MCFD2
  hgvsc: ENST00000409913.1:c.-7-1219C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000386651
  ensembl transcript: ENST00000409105
  gene symbol: MCFD2
  hgvsc: ENST00000409105.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000470873
  gene symbol: MCFD2
  hgvsc: ENST00000470873.1:n.203-3594C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000317271
  ensembl transcript: ENST00000319466
  gene symbol: MCFD2
  hgvsc: ENST00000319466.4:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000493804
  gene symbol: MCFD2
  hgvsc: ENST00000493804.1:n.68-3594C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387541
  ensembl transcript: ENST00000417180
  gene symbol: MCFD2
  hgvsc: ENST00000417180.1:c.-6-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl transcript: ENST00000477791
  gene symbol: MCFD2
  hgvsc: ENST00000477791.1:n.70-11C>T
  variant of: http://identifiers.org/hgnc/18451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180398
  ensembl protein: ENSP00000387082
  ensembl transcript: ENST00000409147
  gene symbol: MCFD2
  hgvsc: ENST00000409147.1:c.-7-1219C>T
  variant of: http://identifiers.org/hgnc/18451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G

GenotypeDepth
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21571
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11843
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 602
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1027
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1678
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1143
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12744
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.04025294904536e-4
allele num: 16446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.312e0

DP
type: SiteQuality
SIO_000300: 2.195916e6

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.544e0

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

GenotypeDepth
all individuals: 2583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7267
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1143
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4919
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.859e0

DP
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SIO_000300: 1.870444e6

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.507e1

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.366e1

BaseQRankSum
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SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
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SIO_000300: 4.14e0

DP
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SIO_000300: 1.871093e6

ClippingRankSum
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SIO_000300: -2.32e-1

FS
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SIO_000300: 1.0911e1

MQRankSum
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SIO_000300: -4.618e0

GenotypeDepth
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variant carriers: 0

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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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 31

African
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allele count: 28
allele frequency: 2.695417789757413e-3
allele num: 10388
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.366e1

FS
type: SiteQuality
SIO_000300: 1.0911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
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SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 1.871093e6

MQRankSum
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SIO_000300: -4.618e0

QD
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
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

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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QD
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VQSLOD
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DP
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SIO_000300: 1.869766e6

ReadPosRankSum
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SIO_000300: 3.36e-1

InbreedingCoeff
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SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.153e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
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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

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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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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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.022e1

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

GenotypeDepth
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variant carriers: 0

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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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East Asian
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European (Non-Finnish)
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VQSLOD
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MQ
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DP
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QD
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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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MQ
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DP
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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East Asian
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South Asian
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FS
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VQSLOD
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African
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MQ
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VQSLOD
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DP
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QD
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DP
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GenotypeDepth
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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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African
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East Asian
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FS
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VQSLOD
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DP
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MQ
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MQRankSum
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QD
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Latino
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East Asian
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MQ
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VQSLOD
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African
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DP
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SIO_000300: 1.871428e6

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12000
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1718
bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 824
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 860
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1880
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7660
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

DP
type: SiteQuality
SIO_000300: 1.870624e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

QD
type: SiteQuality
SIO_000300: 1.249e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

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

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.870621e6

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.126e0

GenotypeDepth
all individuals: 1008
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
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variant carriers: 0

GenotypeDepth
all individuals: 1718
bin: 3.75e1
variant carriers: 0

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

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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 289
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variant carriers: 1

GenotypeDepth
all individuals: 816
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6213
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495352881213648e-5
allele num: 66708
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.812e0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 2.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 1.870792e6

GenotypeDepth
all individuals: 288
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9771
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 8.75e1
variant carriers: 0

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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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1825
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1880
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variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.478e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.870343e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 3.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeDepth
all individuals: 1718
bin: 3.75e1
variant carriers: 0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.994693131052679e-5
allele num: 66706
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.108e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 1.870403e6

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

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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variant carriers: 1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
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Other
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South 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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European (Non-Finnish)
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allele num: 66690
num of homozygotes: 0

ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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FS
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SIO_000300: 6.43e-1

ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.957e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 66686
num of homozygotes: 0

East Asian
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European (Finnish)
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allele num: 6578
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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European (Finnish)
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Latino
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num of homozygotes: 0

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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DP
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FS
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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European (Non-Finnish)
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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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FS
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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DP
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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QD
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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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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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African
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European (Non-Finnish)
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Other
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East Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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QD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Other
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ClippingRankSum
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MQRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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QD
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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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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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European (Finnish)
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African
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South Asian
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East Asian
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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FS
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BaseQRankSum
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QD
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GenotypeDepth
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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MQRankSum
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FS
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QD
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GenotypeQuality
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allele frequency: 1.505797319680771e-5
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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Other
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DP
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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FS
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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QD
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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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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South Asian
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Latino
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East Asian
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African
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European (Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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QD
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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African
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Latino
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East Asian
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.230314960629921e-4
allele num: 8128
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9990
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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.397e0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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FS
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SIO_000300: 2.219e0

VQSLOD
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DP
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SIO_000300: 1.736548e6

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16098
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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SIO_000300: 1.704082e6

QD
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SIO_000300: 1.475e1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 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: 16056
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.393199323689649e-5
allele num: 10646
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -3.31e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.704e0

VQSLOD
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QD
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SIO_000300: 1.313e1

MQ
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SIO_000300: 5.973e1

DP
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SIO_000300: 1.689214e6

MQRankSum
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SIO_000300: 5.87e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 62774
num of homozygotes: 0

African
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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
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

South Asian
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allele num: 16056
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 4.46e-1

DP
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 38
allele frequency: 2.38513683153402e-3
allele num: 15932
num of homozygotes: 1

European (Non-Finnish)
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allele num: 62048
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European (Finnish)
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Latino
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African
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Other
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East Asian
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 1.632013578352972e-5
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African
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Other
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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VQSLOD
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FS
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ClippingRankSum
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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: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 227
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.055743243243243e-4
allele num: 9472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60520
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

DP
type: SiteQuality
SIO_000300: 1.58831e6

QD
type: SiteQuality
SIO_000300: 2.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 9.132e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5094
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.141291942478886e-4
allele num: 8762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55904
num of homozygotes: 0

South Asian
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
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
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SIO_000300: -1.201e0

VQSLOD
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SIO_000300: -1.085e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.365247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 9.44e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55376
num of homozygotes: 0

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

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

South Asian
type: Population
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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

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

East Asian
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allele count: 7
allele frequency: 1.015375689004932e-3
allele num: 6894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 8.032999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
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SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.338463e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16869
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

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

South Asian
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: 6812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.82229025439172e-5
allele num: 54876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.313975e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.386e1

FS
type: SiteQuality
SIO_000300: 1.996e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 427
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.828735318219065e-5
allele num: 14644
num of homozygotes: 0