Item | Value |
---|---|
geneid | 10581 |
ensemblid | ENSG00000185201.18 |
hgncid | 5413 |
symbol | IFITM2 |
name | interferon induced transmembrane protein 2 |
refseq_nuc | NM_006435.3 |
refseq_prot | NP_006426.2 |
ensembl_nuc | ENST00000616316.3 |
ensembl_prot | ENSP00000484689.1 |
mane_status | MANE Select |
chr | chr11 |
start | 307816 |
end | 309395 |
strand | + |
ver | v1.2 |
region | chr11:307816-309395 |
region5000 | chr11:302816-314395 |
regionname0 | IFITM2_chr11_307816_309395 |
regionname5000 | IFITM2_chr11_302816_314395 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 132 | 19 | 1 | 10 | 0 | 5 | 2 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | MNHIV others(127): Show |
chr11 | 302816 | 314395 |
a0002 | 0/0 | 132 | 9 | 1 | 5 | 0 | 2 | 1 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | MNHIV others(127): Show |
chr11 | 302816 | 314395 |
a0003 | 0/0 | 132 | 3 | 0 | 1 | 0 | 1 | 1 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | MNHIV others(127): Show |
chr11 | 302816 | 314395 |
a0004 | 0/0 | 132 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | MNHIV others(127): Show |
chr11 | 302816 | 314395 |
a0005 | 0/0 | 132 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | MNHIV others(127): Show |
chr11 | 302816 | 314395 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 399 | 17 | 1 | 9 | 0 | 5 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0001c0005 | 0/0 | 399 | 2 | 0 | 1 | 0 | 0 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0002c0002 | 0/0 | 399 | 7 | 1 | 3 | 0 | 2 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0002c0004 | 0/0 | 399 | 2 | 0 | 2 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0003c0003 | 0/0 | 399 | 3 | 0 | 1 | 0 | 1 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0004c0007 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 | ||
a0005c0006 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | ATGAA others(394): Show |
chr11 | 302816 | 314395 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1006 | 14 | 1 | 8 | 0 | 4 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0001c0001t0003 | 1/0 | 1006 | 3 | 0 | 1 | 0 | 1 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0001c0005t0001 | 0/0 | 1006 | 2 | 0 | 1 | 0 | 0 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0002c0002t0002 | 0/0 | 1006 | 6 | 0 | 3 | 0 | 2 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0002c0002t0006 | 0/0 | 1006 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0002c0004t0005 | 0/0 | 1006 | 2 | 0 | 2 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0003c0003t0004 | 0/0 | 1006 | 3 | 0 | 1 | 0 | 1 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0004c0007t0008 | 0/0 | 1006 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
a0005c0006t0007 | 0/0 | 1006 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | GTGGG others(1001): Show |
chr11 | 302816 | 314395 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 12 | 1 | 8 | 0 | 2 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0001c0001t0003g0001 | 1/0 | 3 | 0 | 1 | 0 | 1 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0001c0005t0001g0001 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0002c0002t0002g0002 | 0/0 | 6 | 0 | 3 | 0 | 2 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0002c0002t0006g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0002c0004t0005g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0003c0003t0004g0001 | 0/0 | 3 | 0 | 1 | 0 | 1 | 1 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0004c0007t0008g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
a0005c0006t0007g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0002 | c0002 | t0002 | g0002 | EUR | GBR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0003 | EUR | GBR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00323 | hp2 | a0002 | c0002 | t0002 | g0002 | EUR | FIN | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00639 | hp1 | a0003 | c0003 | t0004 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00639 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00735 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00741 | hp1 | a0001 | c0001 | t0003 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG00741 | hp2 | a0002 | c0002 | t0002 | g0002 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01074 | hp1 | a0002 | c0004 | t0005 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01261 | hp1 | a0002 | c0004 | t0005 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01496 | hp1 | a0001 | c0005 | t0001 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01516 | hp1 | a0001 | c0001 | t0003 | g0001 | EUR | IBS | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01891 | hp1 | a0004 | c0007 | t0008 | g0004 | AFR | ACB | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG03490 | hp1 | a0001 | c0005 | t0001 | g0001 | SAS | PJL | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG03490 | hp2 | a0002 | c0002 | t0002 | g0002 | SAS | PJL | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG03579 | hp1 | a0002 | c0002 | t0006 | g0002 | AFR | MSL | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG03579 | hp2 | a0005 | c0006 | t0007 | g0005 | AFR | MSL | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
HG04228 | hp2 | a0003 | c0003 | t0004 | g0001 | SAS | STU | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
NA20805 | hp2 | a0003 | c0003 | t0004 | g0001 | EUR | TSI | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0003 | g0001 | REF | REF | IFITM2_chr11_302816_314395 | IFITM2 | chr11 | 302816 | 314395 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:308290 | T | C | 4 | a0002 a0003 a0004 others(1): Show |
14 | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(11): Show |
missense_variant | MODERATE | c.98T>C | p.Val33Ala | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 475/1006 | 98/399 | 33/132 | chr11 | 308290 | |||
chr11:308314 | T | C | 2 | a0002 a0005 |
10 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(7): Show |
missense_variant | MODERATE | c.122T>C | p.Met41Thr | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 499/1006 | 122/399 | 41/132 | chr11 | 308314 | |||
chr11:309127 | A | G | 2 | a0002 a0004 |
10 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(7): Show |
missense_variant | MODERATE | c.361A>G | p.Ile121Val | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 2/2 | 738/1006 | 361/399 | 121/132 | chr11 | 309127 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:308354 | T | C | 1 | a0002c0004 | 2 | HG01074.hp1 HG01261.hp1 |
synonymous_variant | LOW | c.162T>C | p.Pro54Pro | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 539/1006 | 162/399 | 54/132 | chr11 | 308354 | |||
chr11:308363 | G | C | 5 | a0001c0005 a0002c0002 a0002c0004 others(2): Show |
13 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(10): Show |
synonymous_variant | LOW | c.171G>C | p.Val57Val | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 548/1006 | 171/399 | 57/132 | chr11 | 308363 | |||
chr11:308426 | G | C | 4 | a0002c0002 a0002c0004 a0004c0007 others(1): Show |
11 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(8): Show |
synonymous_variant | LOW | c.234G>C | p.Ala78Ala | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 611/1006 | 234/399 | 78/132 | chr11 | 308426 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:307878 | A | G | 5 | a0002c0002t0002 a0002c0002t0006 a0002c0004t0005 others(2): Show |
11 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-315A>G | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 315 | chr11 | 307878 | ||||||
chr11:307912 | T | C | 3 | a0002c0002t0006 a0002c0004t0005 a0005c0006t0007 |
4 | HG01074.hp1 HG01261.hp1 HG03579.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-281T>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 281 | chr11 | 307912 | ||||||
chr11:307926 | A | C | 2 | a0002c0002t0002 a0005c0006t0007 |
7 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-267A>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 267 | chr11 | 307926 | ||||||
chr11:307948 | C | T | 2 | a0002c0002t0006 a0005c0006t0007 |
2 | HG03579.hp1 HG03579.hp2 |
5_prime_UTR_variant | MODIFIER | c.-245C>T | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 245 | chr11 | 307948 | ||||||
chr11:307961 | A | C | 6 | a0002c0002t0002 a0002c0002t0006 a0002c0004t0005 others(3): Show |
14 | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-232A>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 232 | chr11 | 307961 | ||||||
chr11:307972 | T | C | 5 | a0002c0002t0002 a0002c0002t0006 a0002c0004t0005 others(2): Show |
11 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-221T>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 221 | chr11 | 307972 | ||||||
chr11:307999 | T | G | 4 | a0002c0002t0002 a0002c0002t0006 a0002c0004t0005 others(1): Show |
10 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(7): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-194T>G | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | chr11 | 307999 | |||||||
chr11:308015 | T | C | 2 | a0002c0004t0005 a0003c0003t0004 |
5 | HG00639.hp1 HG01074.hp1 HG01261.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-178T>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 178 | chr11 | 308015 | ||||||
chr11:308022 | C | T | 1 | a0003c0003t0004 | 3 | HG00639.hp1 HG04228.hp2 NA20805.hp2 |
5_prime_UTR_variant | MODIFIER | c.-171C>T | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 171 | chr11 | 308022 | ||||||
chr11:308025 | C | A | 1 | a0003c0003t0004 | 3 | HG00639.hp1 HG04228.hp2 NA20805.hp2 |
5_prime_UTR_variant | MODIFIER | c.-168C>A | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 168 | chr11 | 308025 | ||||||
chr11:308028 | C | T | 1 | a0003c0003t0004 | 3 | HG00639.hp1 HG04228.hp2 NA20805.hp2 |
5_prime_UTR_variant | MODIFIER | c.-165C>T | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 165 | chr11 | 308028 | ||||||
chr11:308065 | T | C | 8 | a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(5): Show |
30 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(27): Show |
5_prime_UTR_variant | MODIFIER | c.-128T>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 128 | chr11 | 308065 | ||||||
chr11:308178 | T | C | 2 | a0002c0002t0002 a0005c0006t0007 |
7 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-15T>C | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 15 | chr11 | 308178 | ||||||
chr11:308180 | A | G | 1 | a0005c0006t0007 | 1 | HG03579.hp2 | 5_prime_UTR_variant | MODIFIER | c.-13A>G | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/2 | 13 | chr11 | 308180 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11:308576 | G | A | 3 | a0002c0002t0002g0002 a0002c0002t0006g0002 a0004c0007t0008g0004 |
8 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.246+138G>A | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/1 | chr11 | 308576 | |||||||
chr11:308631 | AG | A | 2 | a0004c0007t0008g0004 a0005c0006t0007g0005 |
2 | HG01891.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.246+194delG | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/1 | chr11 | 308631 | |||||||
chr11:308716 | C | T | 2 | a0002c0002t0002g0002 a0002c0002t0006g0002 |
7 | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(4): Show |
intron_variant | MODIFIER | c.246+278C>T | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/1 | chr11 | 308716 | |||||||
chr11:308759 | G | A | 1 | a0001c0001t0001g0003 | 2 | HG00099.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.247-254G>A | IFITM2 | ENSG00000185201.18 | transcript | ENST00000616316.3 | protein_coding | 1/1 | chr11 | 308759 |