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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   TMEM191B_chr22_18522802_18535573  TMEM191B_chr22_18522802_18535573 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 728229
ensemblid ENSG00000278558.6
hgncid 33600
symbol TMEM191B
name transmembrane protein 191B
refseq_nuc NM_001242313.1
refseq_prot NP_001229242.1
ensembl_nuc ENST00000612978.5
ensembl_prot ENSP00000481358.1
mane_status MANE Select
chr chr22
start 18527802
end 18530573
strand +
ver v1.2
region chr22:18527802-18530573
region5000 chr22:18522802-18535573
regionname0 TMEM191B_chr22_18527802_18530573
regionname5000 TMEM191B_chr22_18522802_18535573

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 347 23 7 5 10 0 1 8 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0002 1/0 346 4 1 1 0 0 1 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0003 0/0 347 2 2 0 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 1044 23 7 5 10 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
c0002 1/0 1041 4 1 1 0 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
c0003 0/0 1044 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 294 26 7 6 10 0 2 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
t0002 0/0 288 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
t0003 0/0 294 1 1 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 1/0 22 4 5 10 0 2 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
g0002 0/0 3 2 1 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
g0003 0/0 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
g0004 0/0 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 1044 23 7 5 10 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0002c0002 1/0 1041 4 1 1 0 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0003c0003 0/0 1044 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 1337 22 6 5 10 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0001c0001t0003 0/0 1337 1 1 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0002c0002t0001 1/0 1334 4 1 1 0 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573
a0003c0003t0002 0/0 1331 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B copy fasta chr22 18522802 18535573

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 17 2 4 10 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
a0001c0001t0001g0002 0/0 3 2 1 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
a0001c0001t0001g0003 0/0 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
a0001c0001t0003g0001 0/0 1 1 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
a0002c0002t0001g0001 1/0 4 1 1 0 0 1 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
a0003c0003t0002g0004 0/0 2 2 0 0 0 0 TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00597 hp1 a0001 c0001 t0001 g0001 EAS CHS TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG00597 hp2 a0001 c0001 t0001 g0001 EAS CHS TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG00642 hp1 a0001 c0001 t0001 g0001 AMR PUR TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG01243 hp1 a0002 c0002 t0001 g0001 AMR PUR TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG01243 hp2 a0001 c0001 t0001 g0002 AMR PUR TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG01975 hp1 a0001 c0001 t0001 g0001 AMR PEL TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02615 hp1 a0001 c0001 t0001 g0002 AFR GWD TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02615 hp2 a0001 c0001 t0003 g0001 AFR GWD TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02738 hp1 a0002 c0002 t0001 g0001 SAS PJL TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02738 hp2 a0001 c0001 t0001 g0001 SAS PJL TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02970 hp1 a0001 c0001 t0001 g0003 AFR ESN TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02970 hp2 a0003 c0003 t0002 g0004 AFR ESN TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02976 hp1 a0003 c0003 t0002 g0004 AFR ESN TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG02976 hp2 a0001 c0001 t0001 g0001 AFR ESN TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG03041 hp1 a0001 c0001 t0001 g0002 AFR GWD TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
HG03041 hp2 a0001 c0001 t0001 g0003 AFR GWD TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA18947 hp1 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA18947 hp2 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19009 hp1 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19009 hp2 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19011 hp1 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19011 hp2 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19065 hp1 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA19065 hp2 a0001 c0001 t0001 g0001 EAS JPT TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA21309 hp1 a0001 c0001 t0001 g0001 AFR LWK TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
NA21309 hp2 a0002 c0002 t0001 g0001 AFR LWK TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573
homoSapiens_grch38 hp1 a0002 c0002 t0001 g0001 REF REF TMEM191B_chr22_18522802_18535573 TMEM191B chr22 18522802 18535573

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr22:18528587 C
C
 G
G
 1 a0003
a0003
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 missense_variant MODERATE c.325C>G
c.325C>G
 p.Gln109Glu
p.Gln109Glu
 TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 2/9 504/1334 325/1041 109/346 chr22 18528587
chr22:18529023 T
T
 TCTA
TCTA
 2 a0001
a0003
a0001
a0003
 25 HG00597.hp1
HG00597.hp2
HG00642.hp1
others(22): Show 
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00642.hp2
HG01243.hp2
HG01975.hp1
HG01975.hp2
HG02615.hp1
HG02615.hp2
HG02738.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
NA18947.hp1
NA18947.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19065.hp1
NA19065.hp2
NA21309.hp1
 conservative_inframe_insertion MODERATE c.478_480dupTAC
c.478_480dupTAC
 p.Tyr160dup
p.Tyr160dup
 TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 4/9 660/1334 481/1041 161/346 INFO_REALIGN_3_PRIME chr22 18529023

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr22:18529042 G
G
 A
A
 1 a0003c0003
a0003c0003
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 synonymous_variant LOW c.495G>A
c.495G>A
 p.Gln165Gln
p.Gln165Gln
 TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 4/9 674/1334 495/1041 165/346 chr22 18529042

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr22:18527888 T
T
 A
A
 1 a0001c0001t0003
a0001c0001t0003
 1 HG02615.hp2
HG02615.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-93T>A
c.-93T>A
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 1/9 chr22 18527888
chr22:18530557 TAAACTC
TAAACTC
 T
T
 1 a0003c0003t0002
a0003c0003t0002
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 3_prime_UTR_variant MODIFIER c.*101_*106delACTCAA
c.*101_*106delACTCAA
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 9/9 101 INFO_REALIGN_3_PRIME chr22 18530557

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr22:18528473 AGCCT
AGCCT
 A
A
 1 a0003c0003t0002g0004
a0003c0003t0002g0004
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 intron_variant MODIFIER c.297-83_297-80delCT
others(2): Show 
c.297-83_297-80delCTGC
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 1/8 INFO_REALIGN_3_PRIME chr22 18528473
chr22:18528514 C
C
 A
A
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 2 HG02970.hp1
HG03041.hp2
HG02970.hp1
HG03041.hp2
 intron_variant MODIFIER c.297-45C>A
c.297-45C>A
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 1/8 chr22 18528514
chr22:18528726 A
A
 G
G
 1 a0003c0003t0002g0004
a0003c0003t0002g0004
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 intron_variant MODIFIER c.420+44A>G
c.420+44A>G
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 2/8 chr22 18528726
chr22:18528968 T
T
 C
C
 1 a0003c0003t0002g0004
a0003c0003t0002g0004
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 intron_variant MODIFIER c.472-51T>C
c.472-51T>C
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 3/8 chr22 18528968
chr22:18529290 A
A
 G
G
 1 a0003c0003t0002g0004
a0003c0003t0002g0004
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 intron_variant MODIFIER c.547-151A>G
c.547-151A>G
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 4/8 chr22 18529290
chr22:18529295 T
T
 C
C
 1 a0003c0003t0002g0004
a0003c0003t0002g0004
 2 HG02970.hp2
HG02976.hp1
HG02970.hp2
HG02976.hp1
 intron_variant MODIFIER c.547-146T>C
c.547-146T>C
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 4/8 chr22 18529295
chr22:18530047 C
C
 T
T
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 3 HG01243.hp2
HG02615.hp1
HG03041.hp1
HG01243.hp2
HG02615.hp1
HG03041.hp1
 intron_variant MODIFIER c.795+39C>T
c.795+39C>T
TMEM191B ENSG00000278558.6 transcript ENST00000612978.5 protein_coding 7/8 chr22 18530047

  • GeneCards
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  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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