geneid | 8519 |
---|---|
ensemblid | ENSG00000185885.17 |
hgncid | 5412 |
symbol | IFITM1 |
name | interferon induced transmembrane protein 1 |
refseq_nuc | NM_003641.5 |
refseq_prot | NP_003632.4 |
ensembl_nuc | ENST00000408968.4 |
ensembl_prot | ENSP00000386187.3 |
mane_status | MANE Select |
chr | chr11 |
start | 314040 |
end | 315272 |
strand | + |
ver | v1.2 |
region | chr11:314040-315272 |
region5000 | chr11:309040-320272 |
regionname0 | IFITM1_chr11_314040_315272 |
regionname5000 | IFITM1_chr11_309040_320272 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 291 | 34 | 6 | 16 | 0 | 6 | 4 | IFITM1_chr11_309040_320272 | IFITM1 | copy fasta | chr11 | 309040 | 320272 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/1 | 21 | 4 | 9 | 0 | 3 | 3 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
g0002 | 0/0 | 7 | 0 | 4 | 0 | 2 | 1 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
g0003 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 378 | 33 | 6 | 16 | 0 | 6 | 4 | IFITM1_chr11_309040_320272 | IFITM1 | copy fasta | chr11 | 309040 | 320272 |
a0002c0002 | 1/0 | 378 | 1 | 0 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | copy fasta | chr11 | 309040 | 320272 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 668 | 33 | 6 | 16 | 0 | 6 | 4 | IFITM1_chr11_309040_320272 | IFITM1 | copy fasta | chr11 | 309040 | 320272 |
a0002c0002t0001 | 1/0 | 668 | 1 | 0 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | copy fasta | chr11 | 309040 | 320272 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/1 | 20 | 4 | 9 | 0 | 3 | 3 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0001c0001t0001g0002 | 0/0 | 7 | 0 | 4 | 0 | 2 | 1 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0001c0001t0001g0003 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
a0002c0002t0001g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | GBR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | FIN | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01891 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ACB | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG03579 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | TSI | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
homoSapiens_grch38 | hp1 | a0002 | c0002 | t0001 | g0001 | REF | REF | IFITM1_chr11_309040_320272 | IFITM1 | chr11 | 309040 | 320272 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:314207
|
C | G | 1 | a0001 | 33 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(30): Show |
missense_variant | MODERATE | c.37C>G | p.Pro13Ala | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/2 | 168/668 | 37/378 | 13/125 | chr11 | 314207 |
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 |
---|
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:314473
|
C | G | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+117C>G | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314473 | ||||||
chr11:314478
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+122C>T | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314478 | ||||||
chr11:314481
|
C | T | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+125C>T | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314481 | ||||||
chr11:314490
|
T | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+134T>C | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314490 | ||||||
chr11:314500
|
A | G | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+144A>G | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314500 | ||||||
chr11:314533
|
CT | C | 2 | a0001c0001t0001g0002a0001c0001t0001g0006 | 8 | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.186+180delT | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | 314533 | |||||
chr11:314807
|
C | A | 1 | a0001c0001t0001g0006 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.187-115C>A | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314807 | ||||||
chr11:314847
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.187-75G>A | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314847 | ||||||
chr11:314857
|
C | CAGTGAGG others(4): Show |
1 | a0001c0001t0001g0004 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.187-65_187-64insAG others(9): Show |
IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314857 | ||||||
chr11:314872
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.187-50C>A | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314872 | ||||||
chr11:314873
|
G | A | 1 | a0001c0001t0001g0003 | 3 | HG00735.hp2 HG01167.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.187-49G>A | IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 1/1 | chr11 | 314873 |