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 | MCRAT others(342): Show |
chr22 | 18522802 | 18535573 |
a0002 | 1/0 | 346 | 4 | 1 | 1 | 0 | 0 | 1 | 0 | TMEM191B_chr22_18522802_18535573 | TMEM191B | MCRAT others(341): Show |
chr22 | 18522802 | 18535573 |
a0003 | 0/0 | 347 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | TMEM191B_chr22_18522802_18535573 | TMEM191B | MCRAT others(342): Show |
chr22 | 18522802 | 18535573 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1041 | 23 | 7 | 5 | 10 | 0 | 1 | TMEM191B_chr22_18522802_18535573 | TMEM191B | ATGTG others(1036): Show |
chr22 | 18522802 | 18535573 | ||
a0002c0002 | 1/0 | 1038 | 4 | 1 | 1 | 0 | 0 | 1 | TMEM191B_chr22_18522802_18535573 | TMEM191B | ATGTG others(1033): Show |
chr22 | 18522802 | 18535573 | ||
a0003c0003 | 0/0 | 1041 | 2 | 2 | 0 | 0 | 0 | 0 | TMEM191B_chr22_18522802_18535573 | TMEM191B | ATGTG others(1036): Show |
chr22 | 18522802 | 18535573 |
acthapid | grch38chm13v2 | 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 | GATCA others(1332): Show |
chr22 | 18522802 | 18535573 |
a0001c0001t0003 | 0/0 | 1337 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM191B_chr22_18522802_18535573 | TMEM191B | GATCA others(1332): Show |
chr22 | 18522802 | 18535573 |
a0002c0002t0001 | 1/0 | 1334 | 4 | 1 | 1 | 0 | 0 | 1 | TMEM191B_chr22_18522802_18535573 | TMEM191B | GATCA others(1329): Show |
chr22 | 18522802 | 18535573 |
a0003c0003t0002 | 0/0 | 1331 | 2 | 2 | 0 | 0 | 0 | 0 | TMEM191B_chr22_18522802_18535573 | TMEM191B | GATCA others(1326): Show |
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 | grch38p0 | a0002 | c0002 | t0001 | g0001 | REF | REF | TMEM191B_chr22_18522802_18535573 | TMEM191B | chr22 | 18522802 | 18535573 |
view | 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 | G | 1 | a0003 | 2 | HG02970.hp2 HG02976.hp1 |
missense_variant | MODERATE | c.325C>G | p.Gln109Glu | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 2/9 | 504/1334 | 325/1041 | 109/346 | chr22 | 18528587 | |||
chr22:18529023 | T | TCTA | 2 | a0001 a0003 |
25 | HG00597.hp1 HG00597.hp2 HG00642.hp1 others(22): Show |
conservative_inframe_insertion | MODERATE | c.478_480dupTAC | p.Tyr160dup | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 4/9 | 660/1334 | 481/1041 | 161/346 | INFO_REALIGN_3_PRIME | chr22 | 18529023 |
view | 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 | A | 1 | a0003c0003 | 2 | HG02970.hp2 HG02976.hp1 |
synonymous_variant | LOW | c.495G>A | p.Gln165Gln | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 4/9 | 674/1334 | 495/1041 | 165/346 | chr22 | 18529042 |
view | 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 | A | 1 | a0001c0001t0003 | 1 | HG02615.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-93T>A | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 1/9 | chr22 | 18527888 | |||||||
chr22:18530557 | TAAACTC | T | 1 | a0003c0003t0002 | 2 | HG02970.hp2 HG02976.hp1 |
3_prime_UTR_variant | MODIFIER | c.*101_*106delACTCAA | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 9/9 | 101 | INFO_REALIGN_3_PRIME | chr22 | 18530557 |
view | 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 | A | 1 | a0003c0003t0002g0004 | 2 | HG02970.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.297-83_297-80delCT others(2): Show |
TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | 18528473 | ||||||
chr22:18528514 | C | A | 1 | a0001c0001t0001g0003 | 2 | HG02970.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.297-45C>A | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 1/8 | chr22 | 18528514 | |||||||
chr22:18528726 | A | G | 1 | a0003c0003t0002g0004 | 2 | HG02970.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.420+44A>G | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 2/8 | chr22 | 18528726 | |||||||
chr22:18528968 | T | C | 1 | a0003c0003t0002g0004 | 2 | HG02970.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.472-51T>C | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 3/8 | chr22 | 18528968 | |||||||
chr22:18529290 | A | G | 1 | a0003c0003t0002g0004 | 2 | HG02970.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.547-151A>G | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 4/8 | chr22 | 18529290 | |||||||
chr22:18529295 | T | C | 1 | a0003c0003t0002g0004 | 2 | HG02970.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.547-146T>C | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 4/8 | chr22 | 18529295 | |||||||
chr22:18530047 | C | T | 1 | a0001c0001t0001g0002 | 3 | HG01243.hp2 HG02615.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.795+39C>T | TMEM191B | ENSG00000278558.6 | transcript | ENST00000612978.5 | protein_coding | 7/8 | chr22 | 18530047 |