10-104211800-ATTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211800
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211797
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1730_138+1732delTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.459_461delTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.502-30_502-28delTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1423_84+1425delTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1730_336+1732delTTT
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: ATTT
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

10-104211800-A-ATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211800
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211802
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 232
alternate allele: ATT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.502-29_502-28dupTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.460_461dupTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1731_336+1732dupTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1424_84+1425dupTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1731_138+1732dupTT
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

10-104211909-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211909
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211909
    reference: chr 10
allele count: 2
allele frequency: 4.750593824228028e-4
allele num: 4210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.564C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.551C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1822C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1822C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1515C>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

10-104211917-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211917
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211917
    reference: chr 10
allele count: 2
allele frequency: 4.962779156327543e-4
allele num: 4030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.572T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1830T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1523T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.559T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1830T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

10-104211970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211970
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211970
    reference: chr 10
allele count: 1
allele frequency: 1.582278481012658e-3
allele num: 632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.612T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1576T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.599+26T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1883T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1883T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

10-104211978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211978
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211978
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1891T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.620T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.599+34T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1891T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1584T>C
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

10-104211979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104211979
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104211979
    reference: chr 10
allele count: 1
allele frequency: 3.378378378378379e-3
allele num: 296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.336+1892T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.599+35T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000597488
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000597488.1:n.621T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.84+1585T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.138+1892T>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

10-104213739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104213739
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104213739
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 50
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.139-1355T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000598368
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000598368.1:n.143T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.337-1355T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.85-1355T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.600-1355T>C
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

10-104213741-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104213741
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 104213741
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 34
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000492465
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000492465.2:n.600-1353T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000598368
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000598368.1:n.145T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000596366
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000596366.1:n.85-1353T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000473970
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000473970.2:n.337-1353T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269609
  ensembl transcript: ENST00000594818
  gene symbol: RP11-18I14.10
  hgvsc: ENST00000594818.1:n.139-1353T>G
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-179043076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043076
    reference: chr 5
allele count: 14
allele frequency: 1.155363361777279e-4
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3669C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+51C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+51C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

5-179043076-G-GAACAGGCTTTACCATAACTTACTCTAAGTACAGTAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043114
    reference: chr 5
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: GAACAGGCTTTACCATAACTTACTCTAAGTACAGTAACA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-179043081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043081
    reference: chr 5
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3664C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+46C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

5-179043089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043089
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3656G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+38G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+38G>A
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-179043090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043090
    reference: chr 5
allele count: 12
allele frequency: 9.889077513885913e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3655T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+37T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+37T>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

5-179043110-TAACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043110
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043106
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+13_1614+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+13_1240+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+13_1300+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3631_3634delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+13_1389+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+13_162+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+13_*453+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+13_1300+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+13_1300+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+13_2082+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+13_1300+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+13_430+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+13_*576+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+13_508+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+13_302+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+13_456+16delTGTT
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: TAACA
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-179043114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043114
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043114
    reference: chr 5
allele count: 8
allele frequency: 6.589460158476517e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.456+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1300+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3631T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1300+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1614+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*453+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1389+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*576+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.430+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.508+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1300+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1300+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1240+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2082+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.162+13T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.302+13T>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-179043128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043128
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043128
    reference: chr 5
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1299C>T
  hgvsp: ENST00000356731.5:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3617C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1299C>T
  hgvsp: ENST00000442819.2:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.455C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1388C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1239C>T
  hgvsp: ENST00000510411.1:c.1239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.507C>T
  hgvsp: ENST00000519033.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.429C>T
  hgvsp: ENST00000511300.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.161C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1613C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1299C>T
  hgvsp: ENST00000329433.6:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*452C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.301C>T
  hgvsp: ENST00000523449.1:c.301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*575C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2081C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1299C>T
  hgvsp: ENST00000393432.4:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1299C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-179043140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043140
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043140
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1287C>T
  hgvsp: ENST00000442819.2:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.495C>T
  hgvsp: ENST00000519033.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.443C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.149C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*563C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1287C>T
  hgvsp: ENST00000329433.6:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1376C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2069C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1287C>T
  hgvsp: ENST00000393432.4:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.417C>T
  hgvsp: ENST00000511300.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.289C>T
  hgvsp: ENST00000523449.1:c.289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1227C>T
  hgvsp: ENST00000510411.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3605C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1601C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1287C>T
  hgvsp: ENST00000356731.5:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser429Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-179043144-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043144
    reference: chr 5
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.285G>C
  hgvsp: ENSP00000429673.1:p.Ser96Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1372G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1283G>C
  hgvsp: ENSP00000327539.6:p.Ser428Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1283G>C
  hgvsp: ENSP00000377082.4:p.Ser428Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1283G>C
  hgvsp: ENSP00000349168.5:p.Ser428Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2065G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3601G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.413G>C
  hgvsp: ENSP00000444220.1:p.Ser138Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.145G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*559G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1283G>C
  hgvsp: ENSP00000397797.2:p.Ser428Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.141G>C
  hgvsp: ENSP00000430445.1:p.Ser48Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1597G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.439G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1223G>C
  hgvsp: ENSP00000426275.1:p.Ser408Thr
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*436G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.491G>C
  hgvsp: ENSP00000429481.1:p.Ser164Thr
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser428Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-179043146-CTGGCCACCGTAGCCGCCTCCGTAACCCCCACTCAGCTGCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043105
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsp: ENSP00000349168.5:p.Gln414GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsp: ENSP00000397797.2:p.Gln414GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsp: ENSP00000426275.1:p.Gln394GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsp: ENSP00000429481.1:p.Gln150GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsp: ENSP00000327539.6:p.Gln414GlufsTer8
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsp: ENSP00000377082.4:p.Gln414GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsp: ENSP00000430445.1:p.Gln34GlufsTer?
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsp: ENSP00000444220.1:p.Gln124GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsp: ENSP00000429673.1:p.Gln82GlufsTer16
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln414GlufsTer16
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: CTGGCCACCGTAGCCGCCTCCGTAACCCCCACTCAGCTGCTG
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-179043149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043149
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1278C>T
  hgvsp: ENST00000329433.6:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3596C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*431C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.136C>T
  hgvsp: ENST00000523136.1:c.136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.434C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1278C>T
  hgvsp: ENST00000442819.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1218C>T
  hgvsp: ENST00000510411.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1278C>T
  hgvsp: ENST00000356731.5:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.408C>T
  hgvsp: ENST00000511300.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.140C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*554C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.280C>T
  hgvsp: ENST00000523449.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.486C>T
  hgvsp: ENST00000519033.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1592C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1278C>T
  hgvsp: ENST00000393432.4:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1367C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2060C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly426Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-179043154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043154
    reference: chr 5
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.481G>A
  hgvsp: ENSP00000429481.1:p.Gly161Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1273G>A
  hgvsp: ENSP00000349168.5:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1273G>A
  hgvsp: ENSP00000377082.4:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3591G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*426G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1273G>A
  hgvsp: ENSP00000327539.6:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.429G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.135G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.131G>A
  hgvsp: ENSP00000430445.1:p.Gly45Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.403G>A
  hgvsp: ENSP00000444220.1:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2055G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.275G>A
  hgvsp: ENSP00000429673.1:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1213G>A
  hgvsp: ENSP00000426275.1:p.Gly405Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1273G>A
  hgvsp: ENSP00000397797.2:p.Gly425Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*549G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1587G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1362G>A
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly425Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-179043155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043155
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043155
    reference: chr 5
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.134C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.402C>T
  hgvsp: ENST00000511300.2:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1272C>T
  hgvsp: ENST00000356731.5:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1272C>T
  hgvsp: ENST00000442819.2:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2054C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.130C>T
  hgvsp: ENST00000523136.1:c.130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.480C>T
  hgvsp: ENST00000519033.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1212C>T
  hgvsp: ENST00000510411.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1272C>T
  hgvsp: ENST00000393432.4:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1272C>T
  hgvsp: ENST00000329433.6:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.274C>T
  hgvsp: ENST00000523449.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3590C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.428C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1361C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*548C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1586C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr424Tyr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

5-179043160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043160
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043160
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.125G>A
  hgvsp: ENSP00000430445.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.269G>A
  hgvsp: ENSP00000429673.1:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*420G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1356G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3585G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1207G>A
  hgvsp: ENSP00000426275.1:p.Gly403Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.423G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1267G>A
  hgvsp: ENSP00000327539.6:p.Gly423Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1267G>A
  hgvsp: ENSP00000349168.5:p.Gly423Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.475G>A
  hgvsp: ENSP00000429481.1:p.Gly159Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1267G>A
  hgvsp: ENSP00000397797.2:p.Gly423Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*543G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.397G>A
  hgvsp: ENSP00000444220.1:p.Gly133Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.129G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1581G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.979G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1267G>A
  hgvsp: ENSP00000377082.4:p.Gly423Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2049G>A
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly423Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-179043161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043161
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043161
    reference: chr 5
allele count: 95
allele frequency: 7.824983938190864e-4
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.268C>T
  hgvsp: ENST00000523449.1:c.268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.396C>T
  hgvsp: ENST00000511300.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1266C>T
  hgvsp: ENST00000442819.2:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1266C>T
  hgvsp: ENST00000329433.6:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2048C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*542C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*419C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1266C>T
  hgvsp: ENST00000393432.4:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1266C>T
  hgvsp: ENST00000356731.5:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.128C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.474C>T
  hgvsp: ENST00000519033.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1355C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1206C>T
  hgvsp: ENST00000510411.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3584C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.422C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.978C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.124C>T
  hgvsp: ENST00000523136.1:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1580C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly422Gly
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: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-179043165-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043165
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043165
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1262G>C
  hgvsp: ENSP00000327539.6:p.Gly421Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1262G>C
  hgvsp: ENSP00000397797.2:p.Gly421Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.974G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3580G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1262G>C
  hgvsp: ENSP00000377082.4:p.Gly421Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.120G>C
  hgvsp: ENSP00000430445.1:p.Gly41Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1262G>C
  hgvsp: ENSP00000349168.5:p.Gly421Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*538G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1576G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.264G>C
  hgvsp: ENSP00000429673.1:p.Gly89Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.392G>C
  hgvsp: ENSP00000444220.1:p.Gly131Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1351G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*415G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2044G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.124G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.470G>C
  hgvsp: ENSP00000429481.1:p.Gly157Ala
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.418G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1202G>C
  hgvsp: ENSP00000426275.1:p.Gly401Ala
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly421Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

5-179043167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043167
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043167
    reference: chr 5
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.972C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1574C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1200C>T
  hgvsp: ENST00000510411.1:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1260C>T
  hgvsp: ENST00000442819.2:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1260C>T
  hgvsp: ENST00000329433.6:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.262C>T
  hgvsp: ENST00000523449.1:c.262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1260C>T
  hgvsp: ENST00000393432.4:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.118C>T
  hgvsp: ENST00000523136.1:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2042C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1260C>T
  hgvsp: ENST00000356731.5:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*536C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1349C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.390C>T
  hgvsp: ENST00000511300.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.416C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.468C>T
  hgvsp: ENST00000519033.1:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.122C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3578C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr420Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-179043172-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043172
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043172
    reference: chr 5
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.257G>T
  hgvsp: ENSP00000429673.1:p.Gly87Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.117G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.463G>T
  hgvsp: ENSP00000429481.1:p.Gly155Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1195G>T
  hgvsp: ENSP00000426275.1:p.Gly399Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1344G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1255G>T
  hgvsp: ENSP00000349168.5:p.Gly419Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1255G>T
  hgvsp: ENSP00000397797.2:p.Gly419Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2037G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1255G>T
  hgvsp: ENSP00000377082.4:p.Gly419Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1255G>T
  hgvsp: ENSP00000327539.6:p.Gly419Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*408G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.385G>T
  hgvsp: ENSP00000444220.1:p.Gly129Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*531G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.113G>T
  hgvsp: ENSP00000430445.1:p.Gly39Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1569G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.967G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3573G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.411G>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly419Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-179043172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043172
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043172
    reference: chr 5
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2037G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1255G>A
  hgvsp: ENSP00000397797.2:p.Gly419Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.257G>A
  hgvsp: ENSP00000429673.1:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1255G>A
  hgvsp: ENSP00000377082.4:p.Gly419Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.113G>A
  hgvsp: ENSP00000430445.1:p.Gly39Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.463G>A
  hgvsp: ENSP00000429481.1:p.Gly155Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*408G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1569G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.385G>A
  hgvsp: ENSP00000444220.1:p.Gly129Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1195G>A
  hgvsp: ENSP00000426275.1:p.Gly399Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1255G>A
  hgvsp: ENSP00000349168.5:p.Gly419Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1255G>A
  hgvsp: ENSP00000327539.6:p.Gly419Ser
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3573G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.411G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.117G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*531G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.967G>A
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly419Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

5-179043192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043192
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043192
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1324C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1235C>T
  hgvsp: ENSP00000397797.2:p.Ala412Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.97C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1235C>T
  hgvsp: ENSP00000327539.6:p.Ala412Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.365C>T
  hgvsp: ENSP00000444220.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.237C>T
  hgvsp: ENSP00000429673.1:p.Ala80Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1235C>T
  hgvsp: ENSP00000377082.4:p.Ala412Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1175C>T
  hgvsp: ENSP00000426275.1:p.Ala392Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.93C>T
  hgvsp: ENSP00000430445.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.391C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*388C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.443C>T
  hgvsp: ENSP00000429481.1:p.Ala148Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1235C>T
  hgvsp: ENSP00000349168.5:p.Ala412Val
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1549C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2017C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*511C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.947C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3553C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala412Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

5-179043197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043197
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043197
    reference: chr 5
allele count: 127
allele frequency: 1.046180206599997e-3
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1170C>T
  hgvsp: ENST00000510411.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1230C>T
  hgvsp: ENST00000393432.4:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.360C>T
  hgvsp: ENST00000511300.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.438C>T
  hgvsp: ENST00000519033.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3548C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.88C>T
  hgvsp: ENST00000523136.1:c.88C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1319C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1230C>T
  hgvsp: ENST00000329433.6:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1230C>T
  hgvsp: ENST00000356731.5:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*383C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1230C>T
  hgvsp: ENST00000442819.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2012C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1544C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.942C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*506C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.232C>T
  hgvsp: ENST00000523449.1:c.232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.386C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.92C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly410Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

5-179043201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043201
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.88G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1226G>A
  hgvsp: ENSP00000349168.5:p.Gly409Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2008G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3544G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1226G>A
  hgvsp: ENSP00000327539.6:p.Gly409Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*502G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.228G>A
  hgvsp: ENSP00000429673.1:p.Gly77Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.356G>A
  hgvsp: ENSP00000444220.1:p.Gly119Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1226G>A
  hgvsp: ENSP00000397797.2:p.Gly409Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1226G>A
  hgvsp: ENSP00000377082.4:p.Gly409Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1166G>A
  hgvsp: ENSP00000426275.1:p.Gly389Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.84G>A
  hgvsp: ENSP00000430445.1:p.Gly29Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.434G>A
  hgvsp: ENSP00000429481.1:p.Gly145Glu
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.382G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*379G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1540G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.938G>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1315G>A
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly409Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-179043203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043203
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043203
    reference: chr 5
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1224C>T
  hgvsp: ENST00000329433.6:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.354C>T
  hgvsp: ENST00000511300.2:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1224C>T
  hgvsp: ENST00000393432.4:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1164C>T
  hgvsp: ENST00000510411.1:c.1164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.226C>T
  hgvsp: ENST00000523449.1:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1313C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1224C>T
  hgvsp: ENST00000356731.5:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1224C>T
  hgvsp: ENST00000442819.2:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3542C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.432C>T
  hgvsp: ENST00000519033.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.82C>T
  hgvsp: ENST00000523136.1:c.82C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.380C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.936C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.86C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2006C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*500C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1538C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr408Tyr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-179043204-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043204
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043204
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.353A>T
  hgvsp: ENSP00000444220.1:p.Tyr118Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1223A>T
  hgvsp: ENSP00000397797.2:p.Tyr408Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.85A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*376A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1312A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1223A>T
  hgvsp: ENSP00000377082.4:p.Tyr408Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.81A>T
  hgvsp: ENSP00000430445.1:p.Tyr28Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3541A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1223A>T
  hgvsp: ENSP00000327539.6:p.Tyr408Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*499A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2005A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1223A>T
  hgvsp: ENSP00000349168.5:p.Tyr408Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.225A>T
  hgvsp: ENSP00000429673.1:p.Tyr76Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.935A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.431A>T
  hgvsp: ENSP00000429481.1:p.Tyr144Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1163A>T
  hgvsp: ENSP00000426275.1:p.Tyr388Phe
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.379A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1537A>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr408Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

5-179043209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043209
    reference: chr 5
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3536C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*371C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*494C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1218C>T
  hgvsp: ENST00000329433.6:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.348C>T
  hgvsp: ENST00000511300.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.426C>T
  hgvsp: ENST00000519033.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.2000C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1158C>T
  hgvsp: ENST00000510411.1:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.220C>T
  hgvsp: ENST00000523449.1:c.220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1218C>T
  hgvsp: ENST00000356731.5:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.930C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.80C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1218C>T
  hgvsp: ENST00000442819.2:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.76C>T
  hgvsp: ENST00000523136.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1218C>T
  hgvsp: ENST00000393432.4:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1532C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1307C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.374C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser406Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

5-179043210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043210
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043210
    reference: chr 5
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.79C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.347C>G
  hgvsp: ENSP00000444220.1:p.Ser116Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1217C>G
  hgvsp: ENSP00000397797.2:p.Ser406Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3535C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1217C>G
  hgvsp: ENSP00000327539.6:p.Ser406Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1157C>G
  hgvsp: ENSP00000426275.1:p.Ser386Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1217C>G
  hgvsp: ENSP00000349168.5:p.Ser406Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.929C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.219C>G
  hgvsp: ENSP00000429673.1:p.Ser74Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1999C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1217C>G
  hgvsp: ENSP00000377082.4:p.Ser406Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*370C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*493C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.425C>G
  hgvsp: ENSP00000429481.1:p.Ser142Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.75C>G
  hgvsp: ENSP00000430445.1:p.Ser26Cys
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1306C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.373C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1531C>G
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser406Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

5-179043221-TGTTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043221
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043216
    reference: chr 5
allele count: 320
allele frequency: 2.637000412031314e-3
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3519_3523delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-7_1208-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-7_338-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-7_920-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-7_*361-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-7_66-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-7_1208-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-7_1208-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.63_67delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-7_1208-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-7_416-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-7_210-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-7_1297-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-7_1148-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-7_1522-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-7_*484-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-7_364-3delTTAAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1983_1987delTTAAC
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: c.1208-7_1208-3delTTAAC
num of homozygotes: 4
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TGTTAA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-179043223-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043223
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043223
    reference: chr 5
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.66A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1986A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-4A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3522A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-4A>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1208-4A>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

5-179043223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043223
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043223
    reference: chr 5
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3522A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.66A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-4A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1986A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1208-4A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-179043227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043227
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043227
    reference: chr 5
allele count: 5
allele frequency: 4.14236479321315e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3518C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1982C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-8C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.62C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-8C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1208-8C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-179043228-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043228
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043228
    reference: chr 5
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3517A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1981A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.61A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-9A>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-9A>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-179043229-TAAGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043224
    reference: chr 5
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-15_*484-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-15_1208-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-15_66-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-15_210-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-15_1208-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.55_59delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-15_1208-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-15_1208-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-15_338-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-15_1522-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-15_1297-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-15_1148-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1975_1979delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-15_*361-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3511_3515delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-15_416-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-15_920-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-15_364-11delTTCTT
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TAAGAA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

5-179043232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043232
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043232
    reference: chr 5
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1977C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.57C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3513C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-13C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-13C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-179043238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043238
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043238
    reference: chr 5
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.51T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1971T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3507T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-19T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-19T>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-179043241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043241
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043241
    reference: chr 5
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3504T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.48T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1968T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-22T>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-22T>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-179043242-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043242
    reference: chr 5
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1967C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3503C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.47C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-23C>A
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-23C>A
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-179043246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043246
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043246
    reference: chr 5
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1963G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.43G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3499G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-27G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-27G>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

5-179043246-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043246
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043243
    reference: chr 5
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1960_1962delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-30_1208-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-30_920-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-30_210-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-30_1208-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-30_66-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3496_3498delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-30_1297-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-30_1208-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.40_42delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-30_416-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-30_1522-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-30_*361-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-30_1208-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-30_338-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-30_*484-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-30_1148-28delAAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-30_364-28delAAA
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: CTTT
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-179043251-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043251
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043251
    reference: chr 5
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1958A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3494A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-32A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-179043253-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043253
    reference: chr 5
allele count: 359
allele frequency: 2.961801831532052e-3
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1956G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3492G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.36G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-34G>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-34G>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
num of homozygotes: 4
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-179043253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043253
    reference: chr 5
allele count: 5
allele frequency: 4.125072188763303e-5
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3492G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1956G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.36G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-34G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-34G>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-179043257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043257
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043257
    reference: chr 5
allele count: 10
allele frequency: 8.25245923285139e-5
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3488A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.32A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1952A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-38A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-38A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-179043262-TGTGGTACCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043252
    reference: chr 5
allele count: 3
allele frequency: 2.477127852825577e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.17_26delCAGGTACCAC
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TGTGGTACCTG
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-179043263-GTGGTACC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043263
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043256
    reference: chr 5
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-51_920-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-51_1148-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-51_*484-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-51_1208-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-51_*361-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-51_1297-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1939_1945delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.19_25delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-51_1208-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-51_338-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-51_1522-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-51_416-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3475_3481delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-51_364-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-51_1208-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-51_66-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-51_1208-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-51_210-45delGGTACCA
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: GTGGTACC
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-179043264-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043264
    reference: chr 5
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3481A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1945A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.25A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-45A>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-45A>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

5-179043265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043265
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043265
    reference: chr 5
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.24C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3480C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1944C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-46C>T
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-46C>T
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-179043270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043270
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043270
    reference: chr 5
allele count: 2
allele frequency: 1.655793621882969e-5
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1148-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*484-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1208-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.66-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.3475G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*361-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.920-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1939G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1208-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000524179
  gene symbol: HNRNPH1
  hgvsc: ENST00000524179.1:n.19G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1297-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.210-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1208-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1522-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.416-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.338-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.364-51G>C
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1208-51G>C
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

5-179043812-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043812
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043813
    reference: chr 5
allele count: 4
allele frequency: 3.415825519632457e-5
allele num: 117102
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2932dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+209dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1396dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+209dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1323dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+48dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+87dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+209dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+57dupA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+209dupA
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-179043813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043813
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043813
    reference: chr 5
allele count: 29
allele frequency: 2.47448718386293e-4
allele num: 117196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+209A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+209A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2932A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1323A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+87A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1396A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+209A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+57A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+209A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-179043816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043816
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043816
    reference: chr 5
allele count: 4
allele frequency: 3.411921252857484e-5
allele num: 117236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1320A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+206A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2929A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+206A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+206A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+84A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1393A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+45A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+206A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+54A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+54A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-179043817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043817
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043817
    reference: chr 5
allele count: 1
allele frequency: 8.525294548926666e-6
allele num: 117298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+83A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1392A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+44A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+205A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1319A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2928A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+205A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+205A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+205A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+53A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+53A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

5-179043818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043818
    reference: chr 5
allele count: 3
allele frequency: 2.559901699774729e-5
allele num: 117192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+82C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+204C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2927C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+43C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+204C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+204C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1318C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1391C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+204C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+52C>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+52C>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-179043820-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043818
    reference: chr 5
allele count: 1
allele frequency: 8.522097799594348e-6
allele num: 117342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+200_*360+201delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+48_1207+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+200_1147+201delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+78_*483+79delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+200_415+201delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+200_337+201delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2923_2924delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1387_1388delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+39_65+40delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+48_1296+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+48_1207+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+48_1207+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+48_919+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+48_209+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+48_1207+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+48_1521+49delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1314_1315delAA
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+48_363+49delAA
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: CTT
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-179043822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179043822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 179043822
    reference: chr 5
allele count: 1
allele frequency: 8.510203734277399e-6
allele num: 117506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000430445
  ensembl transcript: ENST00000523136
  gene symbol: HNRNPH1
  hgvsc: ENST00000523136.1:c.65+39A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000377082
  ensembl transcript: ENST00000393432
  gene symbol: HNRNPH1
  hgvsc: ENST00000393432.4:c.1207+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000444220
  ensembl transcript: ENST00000511300
  gene symbol: HNRNPH1
  hgvsc: ENST00000511300.2:c.337+200A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000426275
  ensembl transcript: ENST00000510411
  gene symbol: HNRNPH1
  hgvsc: ENST00000510411.1:c.1147+200A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429481
  ensembl transcript: ENST00000519033
  gene symbol: HNRNPH1
  hgvsc: ENST00000519033.1:c.415+200A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000515481
  gene symbol: HNRNPH1
  hgvsc: ENST00000515481.1:n.2923A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514731
  gene symbol: HNRNPH1
  hgvsc: ENST00000514731.1:n.1314A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502904
  gene symbol: HNRNPH1
  hgvsc: ENST00000502904.1:n.1387A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000502632
  gene symbol: HNRNPH1
  hgvsc: ENST00000502632.1:n.1296+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000397797
  ensembl transcript: ENST00000442819
  gene symbol: HNRNPH1
  hgvsc: ENST00000442819.2:c.1207+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000514332
  gene symbol: HNRNPH1
  hgvsc: ENST00000514332.1:n.1521+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000427845
  ensembl transcript: ENST00000519958
  gene symbol: HNRNPH1
  hgvsc: ENST00000519958.1:c.*360+200A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000429673
  ensembl transcript: ENST00000523449
  gene symbol: HNRNPH1
  hgvsc: ENST00000523449.1:c.209+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000349168
  ensembl transcript: ENST00000356731
  gene symbol: HNRNPH1
  hgvsc: ENST00000356731.5:c.1207+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000521720
  gene symbol: HNRNPH1
  hgvsc: ENST00000521720.1:n.363+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl transcript: ENST00000504549
  gene symbol: HNRNPH1
  hgvsc: ENST00000504549.1:n.919+48A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000425851
  ensembl transcript: ENST00000510678
  gene symbol: HNRNPH1
  hgvsc: ENST00000510678.1:c.*483+78A>G
  variant of: http://identifiers.org/hgnc/5041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169045
  ensembl protein: ENSP00000327539
  ensembl transcript: ENST00000329433
  gene symbol: HNRNPH1
  hgvsc: ENST00000329433.6:c.1207+48A>G
  variant of: http://identifiers.org/hgnc/5041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
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allele frequency: 1.921968095329617e-4
allele num: 10406
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.857021e6

BaseQRankSum
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SIO_000300: -1.751e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.066e1

ClippingRankSum
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SIO_000300: 1.91e-1

ReadPosRankSum
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SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.751e0

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 2.857021e6

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3195
bin: 6.25e1
variant carriers: 1

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 4.784e0

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

DP
type: SiteQuality
SIO_000300: 2.856683e6

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 6220
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variant carriers: 0

GenotypeDepth
all individuals: 3187
bin: 6.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
all individuals: 1245
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variant carriers: 121

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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variant carriers: 127

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 119
allele frequency: 1.375404530744337e-2
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.872536e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
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SIO_000300: 4.04e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -5.92e-1

BaseQRankSum
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SIO_000300: -4.819e0

MQ
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SIO_000300: 5.967e1

MQRankSum
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SIO_000300: 4.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Finnish)
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: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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

BaseQRankSum
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SIO_000300: -3.124e0

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

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 8.55e-1

ClippingRankSum
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QD
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DP
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SIO_000300: 2.852817e6

MQRankSum
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MQ
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SIO_000300: 5.986e1

BaseQRankSum
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SIO_000300: -3.821e0

VQSLOD
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SIO_000300: 4.14e0

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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

DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -7.73e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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QD
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SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 2.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

DP
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SIO_000300: 2.852343e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.082e0

QD
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SIO_000300: 1.566e1

MQ
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SIO_000300: 5.986e1

BaseQRankSum
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SIO_000300: -1.363e0

ReadPosRankSum
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SIO_000300: 3.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

Other
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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
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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

ReadPosRankSum
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SIO_000300: 2.28e0

QD
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SIO_000300: 1.671e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.949e1

VQSLOD
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SIO_000300: -2.416e0

DP
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BaseQRankSum
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FS
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SIO_000300: 4.839e0

ClippingRankSum
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SIO_000300: -1.691e0

MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
type: Population
allele count: 12
allele frequency: 1.389210465385506e-3
allele num: 8638
num of homozygotes: 0

South Asian
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allele count: 29
allele frequency: 1.756724012599952e-3
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num of homozygotes: 0

Other
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African
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allele count: 187
allele frequency: 1.800154023873701e-2
allele num: 10388
num of homozygotes: 3

Latino
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allele count: 18
allele frequency: 1.555478741790529e-3
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 71
allele frequency: 1.064116783070052e-3
allele num: 66722
num of homozygotes: 1

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -1.67e-1

MQ
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

African
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allele count: 0
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

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

Other
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Latino
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European (Non-Finnish)
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allele frequency: 1.499925003749813e-5
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num of homozygotes: 0

European (Finnish)
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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FS
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 19

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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African
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South Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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FS
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QD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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East Asian
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allele num: 8622
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Latino
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Other
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South Asian
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MQRankSum
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SIO_000300: 2.84e-1

VQSLOD
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FS
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

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

East Asian
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European (Non-Finnish)
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allele num: 66648
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Other
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South Asian
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African
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European (Finnish)
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ReadPosRankSum
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DP
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VQSLOD
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QD
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MQRankSum
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MQ
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66612
num of homozygotes: 0

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

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

Latino
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East Asian
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African
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Other
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European (Non-Finnish)
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allele count: 1
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allele num: 66468
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South Asian
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ClippingRankSum
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SIO_000300: 7.83e-1

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

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

African
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allele count: 1
allele frequency: 1.050861706599412e-4
allele num: 9516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.113034274507362e-5
allele num: 64246
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.2e-3

ReadPosRankSum
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SIO_000300: -3.97e-1

DP
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SIO_000300: 1.871967e6

VQSLOD
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MQRankSum
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SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.778e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64276
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: 1
allele frequency: 1.203369434416366e-4
allele num: 8310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 3.66e-1

MQRankSum
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SIO_000300: 4.37e-1

BaseQRankSum
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SIO_000300: 2.8e0

ClippingRankSum
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SIO_000300: 9.52e-1

InbreedingCoeff
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SIO_000300: 1.0e-3

DP
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SIO_000300: 1.877449e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 3.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.096e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64198
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.616431187859759e-4
allele num: 11466
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.372e1

BaseQRankSum
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SIO_000300: -1.045e0

InbreedingCoeff
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SIO_000300: 2.6e-3

VQSLOD
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SIO_000300: 4.79e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.883424e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.555016483174721e-5
allele num: 64308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.801e1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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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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GenotypeDepth
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