18-694230-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694230
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694231
    reference: chr 18
allele count: 12
allele frequency: 1.056412423410099e-4
allele num: 113592
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+17dupA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+17dupA
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

18-694230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694230
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694230
    reference: chr 18
allele count: 2
allele frequency: 1.760687372350165e-5
allele num: 113592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+18C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+18C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28297
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

18-694232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694232
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694232
    reference: chr 18
allele count: 4
allele frequency: 3.5056967572305e-5
allele num: 114100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+16A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+16A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

18-694234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694234
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694234
    reference: chr 18
allele count: 3
allele frequency: 2.620865584540387e-5
allele num: 114466
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+14C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+14C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

18-694235-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694235
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694233
    reference: chr 18
allele count: 7
allele frequency: 6.105645105017096e-5
allele num: 114648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+11_523+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+11_396+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+11_396+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+11_280+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+11_396+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+11_420+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+11_419+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+11_90+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+11_150+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+11_216+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+11_459+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+11_396+12delTC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+11_343+12delTC
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31362
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TGA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

18-694240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694240
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694240
    reference: chr 18
allele count: 1
allele frequency: 8.64169792080748e-6
allele num: 115718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+8C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+8C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.459+8C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-694241-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694241
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694241
    reference: chr 18
allele count: 3
allele frequency: 2.58732212160414e-5
allele num: 115950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+7C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+7C>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33715
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.459+7C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

18-694247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694247
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694247
    reference: chr 18
allele count: 1
allele frequency: 8.547739123001965e-6
allele num: 116990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.396+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.90+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.396+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.396+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.216+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.420+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.396+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.280+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.150+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.419+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.523+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.459+1G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.343+1G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.459+1G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

18-694253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694253
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694253
    reference: chr 18
allele count: 1
allele frequency: 8.479462741240714e-6
allele num: 117932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.391G>A
  hgvsp: ENSP00000446321.1:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.338G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.391G>A
  hgvsp: ENSP00000251101.7:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.85G>A
  hgvsp: ENSP00000473632.1:p.Gly29Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.454G>A
  hgvsp: ENSP00000345974.7:p.Gly152Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.211G>A
  hgvsp: ENSP00000462925.2:p.Gly71Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.391G>A
  hgvsp: ENSP00000463448.1:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.391G>A
  hgvsp: ENSP00000464614.1:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.145G>A
  hgvsp: ENSP00000373072.3:p.Gly49Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.275G>A
  hgvsp: ENSP00000463425.1:p.Gly92Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.414G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.415G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.518G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly152Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

18-694255-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694255
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694255
    reference: chr 18
allele count: 1
allele frequency: 8.460236886632826e-6
allele num: 118200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.389A>T
  hgvsp: ENSP00000446321.1:p.Glu130Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.336A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.273A>T
  hgvsp: ENST00000580982.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.452A>T
  hgvsp: ENSP00000345974.7:p.Glu151Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.389A>T
  hgvsp: ENSP00000251101.7:p.Glu130Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.389A>T
  hgvsp: ENSP00000464614.1:p.Glu130Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.412A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.83A>T
  hgvsp: ENSP00000473632.1:p.Glu28Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.143A>T
  hgvsp: ENSP00000373072.3:p.Glu48Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.516A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.389A>T
  hgvsp: ENSP00000463448.1:p.Glu130Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.413A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.209A>T
  hgvsp: ENST00000585128.2:c.209A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu151Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

18-694264-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694264
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694264
    reference: chr 18
allele count: 66
allele frequency: 5.538027790830368e-4
allele num: 119176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.380C>G
  hgvsp: ENSP00000446321.1:p.Ala127Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.134C>G
  hgvsp: ENSP00000373072.3:p.Ala45Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.380C>G
  hgvsp: ENSP00000251101.7:p.Ala127Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.403C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.327C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.74C>G
  hgvsp: ENSP00000473632.1:p.Ala25Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.264C>G
  hgvsp: ENST00000580982.1:c.264C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.200C>G
  hgvsp: ENST00000585128.2:c.200C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.443C>G
  hgvsp: ENSP00000345974.7:p.Ala148Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.380C>G
  hgvsp: ENSP00000464614.1:p.Ala127Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.380C>G
  hgvsp: ENSP00000463448.1:p.Ala127Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.404C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.507C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36732
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala148Gly
num of homozygotes: 2
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-694268-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694268
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694268
    reference: chr 18
allele count: 50
allele frequency: 4.186202277294039e-4
allele num: 119440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.376T>G
  hgvsp: ENSP00000446321.1:p.Trp126Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.376T>G
  hgvsp: ENSP00000251101.7:p.Trp126Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.376T>G
  hgvsp: ENSP00000463448.1:p.Trp126Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.323T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.400T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.70T>G
  hgvsp: ENSP00000473632.1:p.Trp24Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.399T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.439T>G
  hgvsp: ENSP00000345974.7:p.Trp147Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.196T>G
  hgvsp: ENSP00000462925.2:p.Val66Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.130T>G
  hgvsp: ENSP00000373072.3:p.Trp44Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.260T>G
  hgvsp: ENSP00000463425.1:p.Val87Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.376T>G
  hgvsp: ENSP00000464614.1:p.Trp126Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.503T>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36579
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16760
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Trp147Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

18-694269-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694269
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694269
    reference: chr 18
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.195G>C
  hgvsp: ENSP00000462925.2:p.Val66Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.375G>C
  hgvsp: ENSP00000251101.7:p.Leu125Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.259G>C
  hgvsp: ENSP00000463425.1:p.Val87Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.399G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.438G>C
  hgvsp: ENSP00000345974.7:p.Leu146Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.502G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.322G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.398G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.375G>C
  hgvsp: ENSP00000446321.1:p.Leu125Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.375G>C
  hgvsp: ENSP00000464614.1:p.Leu125Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.69G>C
  hgvsp: ENSP00000473632.1:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.129G>C
  hgvsp: ENSP00000373072.3:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.375G>C
  hgvsp: ENSP00000463448.1:p.Leu125Phe
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu146Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

18-694270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694270
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694270
    reference: chr 18
allele count: 1
allele frequency: 8.360784576024614e-6
allele num: 119606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.258T>C
  hgvsp: ENST00000580982.1:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.374T>C
  hgvsp: ENSP00000464614.1:p.Leu125Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.194T>C
  hgvsp: ENST00000585128.2:c.194T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.374T>C
  hgvsp: ENSP00000463448.1:p.Leu125Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.374T>C
  hgvsp: ENSP00000446321.1:p.Leu125Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.398T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.321T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.437T>C
  hgvsp: ENSP00000345974.7:p.Leu146Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.68T>C
  hgvsp: ENSP00000473632.1:p.Leu23Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.397T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.501T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.128T>C
  hgvsp: ENSP00000373072.3:p.Leu43Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.374T>C
  hgvsp: ENSP00000251101.7:p.Leu125Ser
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu146Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

18-694273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694273
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694273
    reference: chr 18
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.371A>G
  hgvsp: ENSP00000463448.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.395A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.318A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.65A>G
  hgvsp: ENSP00000473632.1:p.Asp22Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.371A>G
  hgvsp: ENSP00000446321.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.434A>G
  hgvsp: ENSP00000345974.7:p.Asp145Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.371A>G
  hgvsp: ENSP00000464614.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.191A>G
  hgvsp: ENST00000585128.2:c.191A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.255A>G
  hgvsp: ENST00000580982.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.371A>G
  hgvsp: ENSP00000251101.7:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.498A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.125A>G
  hgvsp: ENSP00000373072.3:p.Asp42Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.394A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp145Gly
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

18-694280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694280
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694280
    reference: chr 18
allele count: 4
allele frequency: 3.333888981496916e-5
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.364G>A
  hgvsp: ENSP00000251101.7:p.Val122Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.427G>A
  hgvsp: ENSP00000345974.7:p.Val143Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.118G>A
  hgvsp: ENSP00000373072.3:p.Val40Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.388G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.248G>A
  hgvsp: ENSP00000463425.1:p.Gly83Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.364G>A
  hgvsp: ENSP00000464614.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.491G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.364G>A
  hgvsp: ENSP00000463448.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.387G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.184G>A
  hgvsp: ENSP00000462925.2:p.Gly62Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.364G>A
  hgvsp: ENSP00000446321.1:p.Val122Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.58G>A
  hgvsp: ENSP00000473632.1:p.Val20Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.311G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val143Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-694281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694281
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694281
    reference: chr 18
allele count: 7
allele frequency: 5.833333333333333e-5
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.387G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.386G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.363G>A
  hgvsp: ENST00000584453.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.363G>A
  hgvsp: ENST00000581475.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.183G>A
  hgvsp: ENSP00000462925.2:p.Gly62Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.490G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.363G>A
  hgvsp: ENST00000539164.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.247G>A
  hgvsp: ENSP00000463425.1:p.Gly83Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.117G>A
  hgvsp: ENST00000383578.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.426G>A
  hgvsp: ENST00000340116.7:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.310G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.363G>A
  hgvsp: ENST00000251101.7:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.57G>A
  hgvsp: ENST00000583771.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly83Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-694282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694282
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694282
    reference: chr 18
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.362C>T
  hgvsp: ENSP00000251101.7:p.Ala121Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.362C>T
  hgvsp: ENSP00000464614.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.385C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.386C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.362C>T
  hgvsp: ENSP00000446321.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.182C>T
  hgvsp: ENST00000585128.2:c.182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.309C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.56C>T
  hgvsp: ENSP00000473632.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.116C>T
  hgvsp: ENSP00000373072.3:p.Ala39Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.425C>T
  hgvsp: ENSP00000345974.7:p.Ala142Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.246C>T
  hgvsp: ENST00000580982.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.362C>T
  hgvsp: ENSP00000463448.1:p.Ala121Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.489C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

18-694284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694284
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694284
    reference: chr 18
allele count: 1
allele frequency: 8.328752519447637e-6
allele num: 120066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.244C>A
  hgvsp: ENSP00000463425.1:p.Arg82Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.423C>A
  hgvsp: ENSP00000345974.7:p.Asn141Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.360C>A
  hgvsp: ENSP00000251101.7:p.Asn120Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.54C>A
  hgvsp: ENSP00000473632.1:p.Asn18Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.487C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.360C>A
  hgvsp: ENSP00000464614.1:p.Asn120Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.383C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.384C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.114C>A
  hgvsp: ENSP00000373072.3:p.Asn38Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.180C>A
  hgvsp: ENSP00000462925.2:p.Arg61Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.360C>A
  hgvsp: ENSP00000463448.1:p.Asn120Lys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.307C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.360C>A
  hgvsp: ENSP00000446321.1:p.Asn120Lys
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn141Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/18-694292-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694292
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694292
    reference: chr 18
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.352G>T
  hgvsp: ENSP00000463448.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.479G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.376G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.415G>T
  hgvsp: ENSP00000345974.7:p.Val139Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.352G>T
  hgvsp: ENSP00000446321.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.352G>T
  hgvsp: ENSP00000464614.1:p.Val118Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.172G>T
  hgvsp: ENSP00000462925.2:p.Arg58Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.352G>T
  hgvsp: ENSP00000251101.7:p.Val118Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.46G>T
  hgvsp: ENSP00000473632.1:p.Val16Phe
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.236G>T
  hgvsp: ENSP00000463425.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.299G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.375G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.106G>T
  hgvsp: ENSP00000373072.3:p.Val36Phe
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val139Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-694292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694292
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694292
    reference: chr 18
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.352G>A
  hgvsp: ENSP00000251101.7:p.Val118Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.376G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.106G>A
  hgvsp: ENSP00000373072.3:p.Val36Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.415G>A
  hgvsp: ENSP00000345974.7:p.Val139Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.46G>A
  hgvsp: ENSP00000473632.1:p.Val16Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.352G>A
  hgvsp: ENSP00000463448.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.172G>A
  hgvsp: ENSP00000462925.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.299G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.352G>A
  hgvsp: ENSP00000446321.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.479G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.236G>A
  hgvsp: ENSP00000463425.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.352G>A
  hgvsp: ENSP00000464614.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.375G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val139Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

18-694293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694293
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694293
    reference: chr 18
allele count: 2
allele frequency: 1.665168015452759e-5
allele num: 120108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.351C>T
  hgvsp: ENST00000581475.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.351C>T
  hgvsp: ENST00000251101.7:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.235C>T
  hgvsp: ENSP00000463425.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.414C>T
  hgvsp: ENST00000340116.7:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.374C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.351C>T
  hgvsp: ENST00000539164.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.105C>T
  hgvsp: ENST00000383578.3:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.375C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.171C>T
  hgvsp: ENSP00000462925.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.298C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.478C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.351C>T
  hgvsp: ENST00000584453.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.45C>T
  hgvsp: ENST00000583771.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg79Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

18-694294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694294
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694294
    reference: chr 18
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.373C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.350C>T
  hgvsp: ENSP00000463448.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.104C>T
  hgvsp: ENSP00000373072.3:p.Ala35Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.350C>T
  hgvsp: ENSP00000251101.7:p.Ala117Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.350C>T
  hgvsp: ENSP00000464614.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.44C>T
  hgvsp: ENSP00000473632.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.374C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.477C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.234C>T
  hgvsp: ENST00000580982.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.413C>T
  hgvsp: ENSP00000345974.7:p.Ala138Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.170C>T
  hgvsp: ENST00000585128.2:c.170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.350C>T
  hgvsp: ENSP00000446321.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.297C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala138Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

18-694296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694296
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694296
    reference: chr 18
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.42G>A
  hgvsp: ENST00000583771.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.475G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.295G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.411G>A
  hgvsp: ENST00000340116.7:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.168G>A
  hgvsp: ENSP00000462925.2:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.371G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.348G>A
  hgvsp: ENST00000584453.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.232G>A
  hgvsp: ENSP00000463425.1:p.Gly78Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.348G>A
  hgvsp: ENST00000581475.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.102G>A
  hgvsp: ENST00000383578.3:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.372G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.348G>A
  hgvsp: ENST00000251101.7:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.348G>A
  hgvsp: ENST00000539164.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly78Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-694297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694297
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694297
    reference: chr 18
allele count: 4
allele frequency: 3.330058775537388e-5
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.231C>T
  hgvsp: ENST00000580982.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.370C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.474C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.410C>T
  hgvsp: ENSP00000345974.7:p.Ala137Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.347C>T
  hgvsp: ENSP00000251101.7:p.Ala116Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.294C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.347C>T
  hgvsp: ENSP00000464614.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.41C>T
  hgvsp: ENSP00000473632.1:p.Ala14Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.347C>T
  hgvsp: ENSP00000463448.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.347C>T
  hgvsp: ENSP00000446321.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.167C>T
  hgvsp: ENST00000585128.2:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.371C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.101C>T
  hgvsp: ENSP00000373072.3:p.Ala34Val
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala137Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

18-694297-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694297
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694297
    reference: chr 18
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.167C>A
  hgvsp: ENSP00000462925.2:p.Ser56Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.370C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.347C>A
  hgvsp: ENSP00000463448.1:p.Ala116Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.231C>A
  hgvsp: ENSP00000463425.1:p.Ser77Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.41C>A
  hgvsp: ENSP00000473632.1:p.Ala14Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.347C>A
  hgvsp: ENSP00000446321.1:p.Ala116Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.371C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.101C>A
  hgvsp: ENSP00000373072.3:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.347C>A
  hgvsp: ENSP00000251101.7:p.Ala116Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.347C>A
  hgvsp: ENSP00000464614.1:p.Ala116Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.410C>A
  hgvsp: ENSP00000345974.7:p.Ala137Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.474C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.294C>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala137Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

18-694302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694302
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694302
    reference: chr 18
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.366G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.226G>A
  hgvsp: ENSP00000463425.1:p.Asp76Asn
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.342G>A
  hgvsp: ENST00000584453.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.342G>A
  hgvsp: ENST00000581475.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.96G>A
  hgvsp: ENST00000383578.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.162G>A
  hgvsp: ENSP00000462925.2:p.Asp55Asn
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.342G>A
  hgvsp: ENST00000251101.7:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.469G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.36G>A
  hgvsp: ENST00000583771.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.365G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.342G>A
  hgvsp: ENST00000539164.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.289G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.405G>A
  hgvsp: ENST00000340116.7:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17834
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp76Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

18-694303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694303
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694303
    reference: chr 18
allele count: 214
allele frequency: 1.781907807087663e-3
allele num: 120096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.341C>T
  hgvsp: ENSP00000463448.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.288C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.35C>T
  hgvsp: ENSP00000473632.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.364C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.341C>T
  hgvsp: ENSP00000446321.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.365C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.404C>T
  hgvsp: ENSP00000345974.7:p.Ala135Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.95C>T
  hgvsp: ENSP00000373072.3:p.Ala32Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.341C>T
  hgvsp: ENSP00000251101.7:p.Ala114Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.341C>T
  hgvsp: ENSP00000464614.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.161C>T
  hgvsp: ENST00000585128.2:c.161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.225C>T
  hgvsp: ENST00000580982.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.468C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36288
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala135Val
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

18-694309-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694309
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694309
    reference: chr 18
allele count: 2
allele frequency: 1.666916704172292e-5
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.89A>C
  hgvsp: ENSP00000373072.3:p.His30Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.155A>C
  hgvsp: ENST00000585128.2:c.155A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.462A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.358A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.335A>C
  hgvsp: ENSP00000446321.1:p.His112Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.219A>C
  hgvsp: ENST00000580982.1:c.219A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.335A>C
  hgvsp: ENSP00000463448.1:p.His112Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.29A>C
  hgvsp: ENSP00000473632.1:p.His10Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.335A>C
  hgvsp: ENSP00000251101.7:p.His112Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.359A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.398A>C
  hgvsp: ENSP00000345974.7:p.His133Pro
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.282A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.335A>C
  hgvsp: ENSP00000464614.1:p.His112Pro
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His133Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-694313-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694313
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694313
    reference: chr 18
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.331G>T
  hgvsp: ENSP00000463448.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.331G>T
  hgvsp: ENSP00000251101.7:p.Val111Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.331G>T
  hgvsp: ENSP00000464614.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.331G>T
  hgvsp: ENSP00000446321.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.151G>T
  hgvsp: ENSP00000462925.2:p.Gly51Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.354G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.458G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.394G>T
  hgvsp: ENSP00000345974.7:p.Val132Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.278G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.25G>T
  hgvsp: ENSP00000473632.1:p.Val9Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.215G>T
  hgvsp: ENSP00000463425.1:p.Gly72Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.85G>T
  hgvsp: ENSP00000373072.3:p.Val29Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.355G>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val132Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-694316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694316
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694316
    reference: chr 18
allele count: 4
allele frequency: 3.341743387525272e-5
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.148G>A
  hgvsp: ENSP00000462925.2:p.Arg50His
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.351G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.328G>A
  hgvsp: ENSP00000463448.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.328G>A
  hgvsp: ENSP00000446321.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.328G>A
  hgvsp: ENSP00000251101.7:p.Val110Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.82G>A
  hgvsp: ENSP00000373072.3:p.Val28Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.275G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.391G>A
  hgvsp: ENSP00000345974.7:p.Val131Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.455G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.22G>A
  hgvsp: ENSP00000473632.1:p.Val8Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.212G>A
  hgvsp: ENSP00000463425.1:p.Arg71His
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.328G>A
  hgvsp: ENSP00000464614.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.352G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val131Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

18-694317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694317
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694317
    reference: chr 18
allele count: 5
allele frequency: 4.180881664325373e-5
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.327C>T
  hgvsp: ENST00000539164.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.147C>T
  hgvsp: ENSP00000462925.2:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.81C>T
  hgvsp: ENST00000383578.3:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.351C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.211C>T
  hgvsp: ENSP00000463425.1:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.454C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.274C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.350C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.327C>T
  hgvsp: ENST00000251101.7:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.327C>T
  hgvsp: ENST00000581475.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.327C>T
  hgvsp: ENST00000584453.1:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.21C>T
  hgvsp: ENST00000583771.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.390C>T
  hgvsp: ENST00000340116.7:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg71Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

18-694327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694327
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694327
    reference: chr 18
allele count: 1
allele frequency: 8.446088616361763e-6
allele num: 118398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.71C>T
  hgvsp: ENSP00000373072.3:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.11C>T
  hgvsp: ENSP00000473632.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.317C>T
  hgvsp: ENSP00000251101.7:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.444C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.137C>T
  hgvsp: ENST00000585128.2:c.137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.317C>T
  hgvsp: ENSP00000446321.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.380C>T
  hgvsp: ENSP00000345974.7:p.Pro127Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.317C>T
  hgvsp: ENSP00000463448.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.340C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.341C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.317C>T
  hgvsp: ENSP00000464614.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.264C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.201C>T
  hgvsp: ENST00000580982.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro127Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

18-694334-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694334
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694334
    reference: chr 18
allele count: 1
allele frequency: 8.510783162266591e-6
allele num: 117498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310A>G
  hgvsp: ENSP00000251101.7:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310A>G
  hgvsp: ENSP00000446321.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4A>G
  hgvsp: ENSP00000473632.1:p.Ile2Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194A>G
  hgvsp: ENSP00000463425.1:p.Asp65Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64A>G
  hgvsp: ENSP00000373072.3:p.Ile22Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310A>G
  hgvsp: ENSP00000463448.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310A>G
  hgvsp: ENSP00000464614.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130A>G
  hgvsp: ENSP00000462925.2:p.Asp44Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373A>G
  hgvsp: ENSP00000345974.7:p.Ile125Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile125Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

18-694338-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694338
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694338
    reference: chr 18
allele count: 1
allele frequency: 8.587966541282354e-6
allele num: 116442
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-4C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-4C>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.373-4C>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

18-694342-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694342
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694342
    reference: chr 18
allele count: 3
allele frequency: 2.605931099181738e-5
allele num: 115122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-8C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-8C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.373-8C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-694351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694351
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694351
    reference: chr 18
allele count: 1
allele frequency: 8.991673710144407e-6
allele num: 111214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-17C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-17C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

18-694352-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694352
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694352
    reference: chr 18
allele count: 1
allele frequency: 9.024456276509339e-6
allele num: 110810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-18A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-18A>C
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-694354-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694354
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694354
    reference: chr 18
allele count: 17
allele frequency: 1.545763698194184e-4
allele num: 109978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-20G>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-20G>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18998
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13437
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

18-694367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694367
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694367
    reference: chr 18
allele count: 1
allele frequency: 9.581297307655456e-6
allele num: 104370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-33A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-33A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-694373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694373
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694373
    reference: chr 18
allele count: 14
allele frequency: 1.405537819006887e-4
allele num: 99606
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-39A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-39A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25151
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

18-694374-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694374
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694372
    reference: chr 18
allele count: 1
allele frequency: 1.034661148473875e-5
allele num: 96650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-42_130-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-42_333-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-42_334-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-42_257-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-42_310-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-42_310-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-42_310-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-42_4-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-42_194-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-42_64-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-42_437-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-42_310-41delTT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-42_373-41delTT
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: GAA
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

18-694382-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 694382
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 694382
    reference: chr 18
allele count: 1
allele frequency: 1.107248045707199e-5
allele num: 90314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.310-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.333-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.373-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.310-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.334-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.310-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.437-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.310-48C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-48C>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

18-697194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697194
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697194
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2860A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2860A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2860A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+46A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2860A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2860A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+46A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

18-697197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697197
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697197
    reference: chr 18
allele count: 6
allele frequency: 4.942257952916756e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2863C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2863C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2863C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2863C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+43C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2863C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+43C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20206
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-697198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697198
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697198
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2864A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2864A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2864A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2864A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+42A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2864A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-697202-ATTACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697202
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697197
    reference: chr 18
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+33_309+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+33_436+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2873_64-2869delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+33_309+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+33_372+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+33_309+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+33_333+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2873_130-2869delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+33_332+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+33_309+37delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2873_194-2869delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2873_4-2869delAGTAA
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2873_257-2869delAGTAA
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: ATTACT
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-697206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697206
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697206
    reference: chr 18
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2872G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2872G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2872G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2872G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+34G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2872G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

18-697210-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697210
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697210
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2876A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2876A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2876A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2876A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+30A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2876A>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+30A>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-697222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697222
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697222
    reference: chr 18
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2888T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2888T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2888T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2888T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+18T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2888T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+18T>C
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

18-697233-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697233
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697233
    reference: chr 18
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2899G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2899G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2899G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+7G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2899G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2899G>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+7G>C
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.372+7G>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

18-697236-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697236
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697236
    reference: chr 18
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.309+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.372+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.436+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.309+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.333+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2902A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2902A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.309+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2902A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2902A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.332+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.309+4A>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2902A>C
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.372+4A>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

18-697248-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697248
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697248
    reference: chr 18
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2914C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.301C>G
  hgvsp: ENSP00000446321.1:p.Leu101Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.324C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2914C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2914C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.301C>G
  hgvsp: ENSP00000463448.1:p.Leu101Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.301C>G
  hgvsp: ENSP00000251101.7:p.Leu101Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.428C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.325C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.301C>G
  hgvsp: ENSP00000464614.1:p.Leu101Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2914C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.364C>G
  hgvsp: ENSP00000345974.7:p.Leu122Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2914C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu122Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

18-697262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697262
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697262
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2928C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.310C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.350C>G
  hgvsp: ENSP00000345974.7:p.Thr117Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.287C>G
  hgvsp: ENSP00000464614.1:p.Thr96Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.287C>G
  hgvsp: ENSP00000463448.1:p.Thr96Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2928C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.311C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2928C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.414C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.287C>G
  hgvsp: ENSP00000251101.7:p.Thr96Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2928C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.287C>G
  hgvsp: ENSP00000446321.1:p.Thr96Arg
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2928C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr117Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

18-697263-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697263
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697262
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.285delC
  hgvsp: ENSP00000463448.1:p.Thr96GlnfsTer24
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.348delC
  hgvsp: ENSP00000345974.7:p.Thr117GlnfsTer24
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.285delC
  hgvsp: ENSP00000446321.1:p.Thr96GlnfsTer24
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2930delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.285delC
  hgvsp: ENSP00000251101.7:p.Thr96GlnfsTer24
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.308delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.309delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.412delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2930delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2930delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.285delC
  hgvsp: ENSP00000464614.1:p.Thr96GlnfsTer24
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2930delC
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2930delC
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr117GlnfsTer24
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: TG
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-697266-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697266
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697266
    reference: chr 18
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.410C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.346C>G
  hgvsp: ENSP00000345974.7:p.Leu116Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2932C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2932C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2932C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.283C>G
  hgvsp: ENSP00000251101.7:p.Leu95Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.283C>G
  hgvsp: ENSP00000463448.1:p.Leu95Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2932C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.283C>G
  hgvsp: ENSP00000464614.1:p.Leu95Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.307C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.283C>G
  hgvsp: ENSP00000446321.1:p.Leu95Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.306C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2932C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu116Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-697269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697269
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697269
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.280C>T
  hgvsp: ENSP00000464614.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2935C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.303C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2935C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.407C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.280C>T
  hgvsp: ENSP00000251101.7:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.343C>T
  hgvsp: ENSP00000345974.7:p.Gln115Ter
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.449C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2935C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.280C>T
  hgvsp: ENSP00000446321.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2935C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.280C>T
  hgvsp: ENSP00000463448.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2935C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.304C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln115Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

18-697277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697277
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697277
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.272T>C
  hgvsp: ENSP00000251101.7:p.Phe91Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2943T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.296T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.272T>C
  hgvsp: ENSP00000446321.1:p.Phe91Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.335T>C
  hgvsp: ENSP00000345974.7:p.Phe112Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2943T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2943T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.272T>C
  hgvsp: ENSP00000463448.1:p.Phe91Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.272T>C
  hgvsp: ENSP00000464614.1:p.Phe91Ser
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.295T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2943T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.441T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.399T>C
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2943T>C
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe112Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

18-697280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697280
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697280
    reference: chr 18
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.269G>A
  hgvsp: ENSP00000446321.1:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.269G>A
  hgvsp: ENSP00000464614.1:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2946G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.269G>A
  hgvsp: ENSP00000251101.7:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.293G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2946G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.269G>A
  hgvsp: ENSP00000463448.1:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2946G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.438G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.396G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2946G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.332G>A
  hgvsp: ENSP00000345974.7:p.Gly111Asp
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2946G>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.292G>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly111Asp
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-697288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697288
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697288
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2954C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2954C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.284C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.261C>G
  hgvsp: ENSP00000251101.7:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.261C>G
  hgvsp: ENSP00000446321.1:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.261C>G
  hgvsp: ENSP00000464614.1:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.261C>G
  hgvsp: ENSP00000463448.1:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.324C>G
  hgvsp: ENSP00000345974.7:p.Asp108Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.430C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.388C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2954C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.285C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2954C>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2954C>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp108Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-697292-CCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697292
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697289
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.277_279delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.317_319delTTG
  hgvsp: ENSP00000345974.7:p.Val106del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.278_280delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.254_256delTTG
  hgvsp: ENSP00000446321.1:p.Val85del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2961_130-2959delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2961_194-2959delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.254_256delTTG
  hgvsp: ENSP00000251101.7:p.Val85del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.254_256delTTG
  hgvsp: ENSP00000463448.1:p.Val85del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2961_4-2959delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.254_256delTTG
  hgvsp: ENSP00000464614.1:p.Val85del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2961_64-2959delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.381_383delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2961_257-2959delTTG
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.423_425delTTG
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val106del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: CCAA
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/18-697295-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697295
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697295
    reference: chr 18
allele count: 13
allele frequency: 1.07073435904194e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.381T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.317T>G
  hgvsp: ENSP00000345974.7:p.Val106Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2961T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2961T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.254T>G
  hgvsp: ENSP00000446321.1:p.Val85Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.254T>G
  hgvsp: ENSP00000464614.1:p.Val85Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.254T>G
  hgvsp: ENSP00000251101.7:p.Val85Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.277T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2961T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2961T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.254T>G
  hgvsp: ENSP00000463448.1:p.Val85Gly
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.278T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2961T>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.423T>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20194
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val106Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

18-697296-CAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697296
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697293
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.273_275delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.250_252delATT
  hgvsp: ENSP00000446321.1:p.Ile84del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2965_4-2963delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.377_379delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.419_421delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2965_64-2963delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.250_252delATT
  hgvsp: ENSP00000251101.7:p.Ile84del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.313_315delATT
  hgvsp: ENSP00000345974.7:p.Ile105del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.250_252delATT
  hgvsp: ENSP00000463448.1:p.Ile84del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.250_252delATT
  hgvsp: ENSP00000464614.1:p.Ile84del
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2965_130-2963delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2965_194-2963delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2965_257-2963delATT
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.274_276delATT
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile105del
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: CAAT
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

18-697299-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697299
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697299
    reference: chr 18
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.273A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.250A>G
  hgvsp: ENSP00000251101.7:p.Ile84Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.250A>G
  hgvsp: ENSP00000463448.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.250A>G
  hgvsp: ENSP00000446321.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2965A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.419A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.274A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.377A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.250A>G
  hgvsp: ENSP00000464614.1:p.Ile84Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2965A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.313A>G
  hgvsp: ENSP00000345974.7:p.Ile105Val
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2965A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2965A>G
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2965A>G
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile105Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

18-697309-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697309
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697309
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.240C>A
  hgvsp: ENSP00000463448.1:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.367C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.240C>A
  hgvsp: ENSP00000464614.1:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.240C>A
  hgvsp: ENSP00000446321.1:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.303C>A
  hgvsp: ENSP00000345974.7:p.Asp101Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2975C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.263C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.409C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.240C>A
  hgvsp: ENSP00000251101.7:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2975C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2975C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2975C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.264C>A
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2975C>A
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp101Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

18-697315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 697315
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 697315
    reference: chr 18
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000464614
  ensembl transcript: ENST00000581475
  gene symbol: ENOSF1
  hgvsc: ENST00000581475.1:c.234C>T
  hgvsp: ENST00000581475.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000345974
  ensembl transcript: ENST00000340116
  gene symbol: ENOSF1
  hgvsc: ENST00000340116.7:c.297C>T
  hgvsp: ENST00000340116.7:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000579053
  gene symbol: ENOSF1
  hgvsc: ENST00000579053.1:n.361C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000251101
  ensembl transcript: ENST00000251101
  gene symbol: ENOSF1
  hgvsc: ENST00000251101.7:c.234C>T
  hgvsp: ENST00000251101.7:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000373072
  ensembl transcript: ENST00000383578
  gene symbol: ENOSF1
  hgvsc: ENST00000383578.3:c.64-2981C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000581332
  gene symbol: ENOSF1
  hgvsc: ENST00000581332.1:n.403C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000462925
  ensembl transcript: ENST00000585128
  gene symbol: ENOSF1
  hgvsc: ENST00000585128.2:c.130-2981C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463448
  ensembl transcript: ENST00000584453
  gene symbol: ENOSF1
  hgvsc: ENST00000584453.1:c.234C>T
  hgvsp: ENST00000584453.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000585004
  gene symbol: ENOSF1
  hgvsc: ENST00000585004.1:n.257-2981C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000446321
  ensembl transcript: ENST00000539164
  gene symbol: ENOSF1
  hgvsc: ENST00000539164.1:c.234C>T
  hgvsp: ENST00000539164.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000463425
  ensembl transcript: ENST00000580982
  gene symbol: ENOSF1
  hgvsc: ENST00000580982.1:c.194-2981C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000578651
  gene symbol: ENOSF1
  hgvsc: ENST00000578651.1:n.258C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132199
  ensembl transcript: ENST00000580605
  gene symbol: ENOSF1
  hgvsc: ENST00000580605.1:n.257C>T
  variant of: http://identifiers.org/hgnc/30365
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132199
  ensembl protein: ENSP00000473632
  ensembl transcript: ENST00000583771
  gene symbol: ENOSF1
  hgvsc: ENST00000583771.1:c.4-2981C>T
  variant of: http://identifiers.org/hgnc/30365
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn99Asn
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 295
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2887
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5049
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.914364112054113e-4
allele num: 62684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

FS
type: SiteQuality
SIO_000300: 1.879e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.295456e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.08e1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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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
allele num: 9580
num of homozygotes: 0

European (Finnish)
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.190606853423521e-5
allele num: 62684
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
allele frequency: 6.352231221216452e-5
allele num: 62970
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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Other
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
allele frequency: 1.037559659680432e-4
allele num: 9638
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.164556962025317e-5
allele num: 63200
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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SIO_000300: -2.99e-1

ClippingRankSum
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MQ
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QD
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15578
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: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.105915065722952e-4
allele num: 63296
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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allele num: 8452
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European (Finnish)
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BaseQRankSum
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FS
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MQ
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.122658006495129e-5
allele num: 64048
num of homozygotes: 0

South Asian
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allele frequency: 6.372673973999491e-5
allele num: 15692
num of homozygotes: 0

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

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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.547508511296812e-5
allele num: 64620
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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

ReadPosRankSum
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SIO_000300: 8.32e-1

MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
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SIO_000300: -3.495e0

ClippingRankSum
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SIO_000300: -3.78e-1

DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8566
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535673700052213e-5
allele num: 65118
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
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DP
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SIO_000300: 1.420227e6

MQ
type: SiteQuality
SIO_000300: 5.841e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 1.58e0

FS
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SIO_000300: 7.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
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SIO_000300: -1.543e0

QD
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SIO_000300: 8.82e0

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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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variant carriers: 63

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 645
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variant carriers: 0

South Asian
type: Population
allele count: 66
allele frequency: 4.093277102455967e-3
allele num: 16124
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65712
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.214e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.408e1

MQRankSum
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SIO_000300: 2.06e-1

ReadPosRankSum
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SIO_000300: 3.63e-1

BaseQRankSum
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SIO_000300: 2.73e-1

DP
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SIO_000300: 1.444334e6

VQSLOD
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SIO_000300: 4.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

African
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allele count: 49
allele frequency: 4.831394202326957e-3
allele num: 10142
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FS
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QD
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16194
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
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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DP
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66012
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

East Asian
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African
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allele frequency: 1.956564273136372e-4
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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QD
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DP
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

South Asian
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allele num: 16280
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8634
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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VQSLOD
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MQ
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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MQ
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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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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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num of homozygotes: 0

African
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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: 1.512081531436175e-5
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East Asian
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Other
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European (Finnish)
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.139489194499017e-5
allele num: 16288
num of homozygotes: 0

InbreedingCoeff
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MQ
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SIO_000300: 5.94e1

VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 10234
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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DP
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QD
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.945e1

GenotypeDepth
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GenotypeDepth
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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: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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SIO_000300: -1.769e0

FS
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SIO_000300: 1.088e0

ReadPosRankSum
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SIO_000300: 5.48e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: 1.49e-1

MQ
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DP
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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SIO_000300: -1.019e0

BaseQRankSum
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SIO_000300: 1.03e0

ReadPosRankSum
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SIO_000300: -8.3e-2

QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022700480609376e-5
allele num: 66166
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.228350325512836e-4
allele num: 16282
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.971e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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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South Asian
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Latino
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allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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FS
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.511258878645912e-5
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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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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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.75e1
variant carriers: 213

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 178
allele frequency: 2.690772765751602e-3
allele num: 66152
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.718624109079641e-3
allele num: 6454
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.249343832020997e-4
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.072007864340133e-4
allele num: 16276
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

DP
type: SiteQuality
SIO_000300: 1.473601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

QD
type: SiteQuality
SIO_000300: 1.133e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeDepth
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 1.467473e6

QD
type: SiteQuality
SIO_000300: 1.328e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.494e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 2
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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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: 589
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 51841
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 771
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 92
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 1.465679e6

VQSLOD
type: SiteQuality
SIO_000300: -5.618e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 7.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18071
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
all individuals: 1418
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GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 590
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variant carriers: 4

GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
all individuals: 4202
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GenotypeQuality
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GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 51711
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.547797350150077e-5
allele num: 65966
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 3.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

DP
type: SiteQuality
SIO_000300: 1.463843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeDepth
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1549
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GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 51422
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GenotypeQuality
all individuals: 618
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 748
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
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GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.235635734585444e-4
allele num: 16186
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.96232339089482e-4
allele num: 10192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 1.46241e6

GenotypeDepth
all individuals: 3614
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 1

GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 295
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GenotypeDepth
all individuals: 11
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GenotypeQuality
all individuals: 2895
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GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 283
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 355
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GenotypeQuality
all individuals: 353
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 166
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 679
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GenotypeQuality
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GenotypeQuality
all individuals: 585
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variant carriers: 1

GenotypeQuality
all individuals: 3835
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 9.65e0

BaseQRankSum
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SIO_000300: -1.283e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 48645
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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African
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European (Finnish)
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Other
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DP
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QD
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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FS
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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DP
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.62871754780286e-5
allele num: 61398
num of homozygotes: 0

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

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

Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 9.226401703335699e-4
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DP
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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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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allele frequency: 1.236093943139679e-4
allele num: 8090
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66734
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Other
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African
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Latino
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South Asian
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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