geneid | 100287399 |
---|---|
ensemblid | ENSG00000230031.10 |
hgncid | 48327 |
symbol | POTEB2 |
name | POTE ankyrin domain family member B2 |
refseq_nuc | NM_001277303.1 |
refseq_prot | NP_001264232.1 |
ensembl_nuc | ENST00000454856.4 |
ensembl_prot | ENSP00000456953.1 |
mane_status | MANE Select |
chr | chr15 |
start | 20835372 |
end | 20866314 |
strand | - |
ver | v1.2 |
region | chr15:20835372-20866314 |
region5000 | chr15:20830372-20871314 |
regionname0 | POTEB2_chr15_20835372_20866314 |
regionname5000 | POTEB2_chr15_20830372_20871314 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 441 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0002 | 0/0 | 544 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0003 | 0/0 | 544 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0004 | 0/0 | 544 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1635 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
c0002 | 0/0 | 1635 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
c0003 | 0/0 | 1635 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
c0004 | 0/0 | 1635 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 0/0 | 1635 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0002c0001 | 0/0 | 1635 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0003c0003 | 0/0 | 1635 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0004c0004 | 0/0 | 1635 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0002 | 0/0 | 1687 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0002c0001t0002 | 0/0 | 1687 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0003c0003t0001 | 0/0 | 1687 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
a0004c0004t0001 | 0/0 | 1687 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | copy fasta | chr15 | 20830372 | 20871314 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0002c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0003c0003t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0004c0004t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00735 | hp1 | a0004 | c0004 | t0001 | g0002 | AMR | PUR | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
HG00735 | hp2 | a0002 | c0001 | t0002 | g0003 | AMR | PUR | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
NA19002 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
NA19002 | hp2 | a0003 | c0003 | t0001 | g0001 | EAS | JPT | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20835435
|
T | C | 4 | a0001a0002a0003others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
missense_variant | MODERATE | c.1591A>G | p.Thr531Ala | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 11/11 | 1624/1687 | 1591/1635 | 531/544 | chr15 | 20835435 | ||
chr15:20835533
|
T | A | 4 | a0001a0002a0003others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
missense_variant | MODERATE | c.1493A>T | p.Lys498Met | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 11/11 | 1526/1687 | 1493/1635 | 498/544 | chr15 | 20835533 | ||
chr15:20837317
|
C | T | 3 | a0001a0002a0004 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
missense_variant | MODERATE | c.1349G>A | p.Gly450Glu | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/11 | 1382/1687 | 1349/1635 | 450/544 | chr15 | 20837317 | ||
chr15:20837342
|
G | A | 1 | a0001 | 1 | NA19002.hp1 | stop_gained | HIGH | c.1324C>T | p.Gln442* | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/11 | 1357/1687 | 1324/1635 | 442/544 | chr15 | 20837342 | ||
chr15:20845872
|
T | C | 3 | a0001a0002a0004 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
missense_variant | MODERATE | c.1259A>G | p.Asn420Ser | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/11 | 1292/1687 | 1259/1635 | 420/544 | chr15 | 20845872 | ||
chr15:20856672
|
G | A | 1 | a0004 | 1 | HG00735.hp1 | missense_variant | MODERATE | c.908C>T | p.Thr303Ile | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/11 | 941/1687 | 908/1635 | 303/544 | chr15 | 20856672 | ||
chr15:20858172
|
C | G | 3 | a0001a0002a0004 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
missense_variant | MODERATE | c.745G>C | p.Glu249Gln | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/11 | 778/1687 | 745/1635 | 249/544 | chr15 | 20858172 | ||
chr15:20866110
|
T | C | 1 | a0001 | 1 | NA19002.hp1 | missense_variant | MODERATE | c.172A>G | p.Arg58Gly | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/11 | 205/1687 | 172/1635 | 58/544 | chr15 | 20866110 | ||
chr15:20866163
|
G | T | 2 | a0001a0002 | 2 | HG00735.hp2 NA19002.hp1 |
missense_variant | MODERATE | c.119C>A | p.Thr40Lys | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/11 | 152/1687 | 119/1635 | 40/544 | chr15 | 20866163 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20856671
|
T | C | 2 | a0003c0003a0004c0004 | 2 | HG00735.hp1 NA19002.hp2 |
synonymous_variant | LOW | c.909A>G | p.Thr303Thr | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/11 | 942/1687 | 909/1635 | 303/544 | chr15 | 20856671 | ||
chr15:20861165
|
G | A | 1 | a0004c0004 | 1 | HG00735.hp1 | synonymous_variant | LOW | c.576C>T | p.Gly192Gly | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/11 | 609/1687 | 576/1635 | 192/544 | chr15 | 20861165 | ||
chr15:20866135
|
A | G | 2 | a0001c0002a0002c0001 | 2 | HG00735.hp2 NA19002.hp1 |
synonymous_variant | LOW | c.147T>C | p.His49His | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/11 | 180/1687 | 147/1635 | 49/544 | chr15 | 20866135 | ||
chr15:20866156
|
A | G | 3 | a0001c0002a0002c0001a0003c0003 | 3 | HG00735.hp2 NA19002.hp1 NA19002.hp2 |
synonymous_variant | LOW | c.126T>C | p.Asn42Asn | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/11 | 159/1687 | 126/1635 | 42/544 | chr15 | 20866156 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20866312
|
T | C | 2 | a0001c0002t0002a0002c0001t0002 | 2 | HG00735.hp2 NA19002.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-31A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/11 | chr15 | 20866312 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20835692
|
G | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423-89C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20835692 | ||||||
chr15:20835975
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423-372G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20835975 | ||||||
chr15:20836077
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1423-474C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836077 | ||||||
chr15:20836122
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423-519C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836122 | ||||||
chr15:20836201
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1423-598C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836201 | ||||||
chr15:20836218
|
G | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1423-615C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836218 | ||||||
chr15:20836384
|
TAC | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1423-783_1423-782d others(4): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836384 | ||||||
chr15:20836546
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1422+698T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836546 | ||||||
chr15:20836784
|
C | T | 1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1422+460G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836784 | ||||||
chr15:20836993
|
C | T | 2 | a0002c0001t0002g0003a0004c0004t0001g0002 | 2 | HG00735.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.1422+251G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836993 | ||||||
chr15:20837140
|
T | TGTGTGTG others(35): Show |
1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1422+103_1422+104i others(44): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20837140 | ||||||
chr15:20837140
|
T | TGTGTGTG others(39): Show |
2 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1422+103_1422+104i others(48): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20837140 | ||||||
chr15:20837140
|
T | TGTGTGTG others(38): Show |
1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1422+103_1422+104i others(47): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20837140 | ||||||
chr15:20837204
|
C | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1422+40G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20837204 | ||||||
chr15:20837448
|
C | A | 1 | a0001c0002t0002g0004 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1299-81G>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20837448 | ||||||
chr15:20837616
|
C | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-249G>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20837616 | ||||||
chr15:20837886
|
C | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-519G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20837886 | ||||||
chr15:20837901
|
T | C | 2 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-534A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20837901 | ||||||
chr15:20838997
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-1630A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20838997 | ||||||
chr15:20839212
|
AAAAT | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-1849_1299-184 others(8): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839212 | ||||||
chr15:20839308
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-1941A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839308 | ||||||
chr15:20839377
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-2010C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839377 | ||||||
chr15:20839583
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-2216T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839583 | ||||||
chr15:20839868
|
TTATATAT others(27): Show |
T | 1 | a0001c0002t0002g0004 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1299-2535_1299-250 others(38): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839868 | ||||||
chr15:20839920
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-2553T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20839920 | ||||||
chr15:20840597
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3230C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840597 | ||||||
chr15:20840672
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3305G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840672 | ||||||
chr15:20840679
|
T | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3312A>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840679 | ||||||
chr15:20840686
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3319C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840686 | ||||||
chr15:20840728
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3361G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840728 | ||||||
chr15:20840772
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3405C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840772 | ||||||
chr15:20840826
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3459A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20840826 | ||||||
chr15:20841142
|
A | AT | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3776dupA | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841142 | ||||||
chr15:20841175
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3808T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841175 | ||||||
chr15:20841310
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-3943C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841310 | ||||||
chr15:20841326
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1299-3959C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841326 | ||||||
chr15:20841344
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3977C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841344 | ||||||
chr15:20841345
|
C | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3978G>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841345 | ||||||
chr15:20841364
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-3997C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841364 | ||||||
chr15:20841367
|
T | C | 1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1299-4000A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841367 | ||||||
chr15:20841465
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-4098G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841465 | ||||||
chr15:20841476
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1299-4109T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841476 | ||||||
chr15:20841642
|
C | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+4191G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841642 | ||||||
chr15:20841935
|
G | GGGT | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+3895_1298+389 others(7): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841935 | ||||||
chr15:20841998
|
CA | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1298+3834delT | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841998 | ||||||
chr15:20842066
|
C | T | 1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1298+3767G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842066 | ||||||
chr15:20842196
|
C | T | 3 | a0002c0001t0002g0003a0003c0003t0001g0001a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.1298+3637G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842196 | ||||||
chr15:20842415
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+3418T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842415 | ||||||
chr15:20842416
|
T | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+3417A>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842416 | ||||||
chr15:20842476
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+3357T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842476 | ||||||
chr15:20842908
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1298+2925C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20842908 | ||||||
chr15:20843247
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1298+2586C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20843247 | ||||||
chr15:20843708
|
G | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+2125C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20843708 | ||||||
chr15:20843761
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+2072C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20843761 | ||||||
chr15:20844801
|
C | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+1032G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20844801 | ||||||
chr15:20845545
|
G | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1298+288C>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20845545 | ||||||
chr15:20846152
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1132-153A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 8/10 | chr15 | 20846152 | ||||||
chr15:20846206
|
TAA | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1132-209_1132-208d others(4): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 8/10 | chr15 | 20846206 | ||||||
chr15:20846541
|
T | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1131+504A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 8/10 | chr15 | 20846541 | ||||||
chr15:20846643
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1131+402C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 8/10 | chr15 | 20846643 | ||||||
chr15:20846654
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1131+391A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 8/10 | chr15 | 20846654 | ||||||
chr15:20847838
|
A | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1086+655T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 7/10 | chr15 | 20847838 | ||||||
chr15:20847900
|
G | A | 2 | a0002c0001t0002g0003a0004c0004t0001g0002 | 2 | HG00735.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.1086+593C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 7/10 | chr15 | 20847900 | ||||||
chr15:20848262
|
C | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1086+231G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 7/10 | chr15 | 20848262 | ||||||
chr15:20848287
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1086+206A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 7/10 | chr15 | 20848287 | ||||||
chr15:20848457
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1086+36C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 7/10 | chr15 | 20848457 | ||||||
chr15:20848816
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1016-253G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20848816 | ||||||
chr15:20849140
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1016-577A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20849140 | ||||||
chr15:20849160
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1016-597T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20849160 | ||||||
chr15:20849349
|
C | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1016-786G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20849349 | ||||||
chr15:20849478
|
C | CT | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1016-916dupA | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20849478 | ||||||
chr15:20849803
|
T | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1016-1240A>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20849803 | ||||||
chr15:20850259
|
G | C | 1 | a0002c0001t0002g0003 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1016-1696C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20850259 | ||||||
chr15:20851090
|
G | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1016-2527C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851090 | ||||||
chr15:20851105
|
T | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1016-2542A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851105 | ||||||
chr15:20851319
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+2738A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851319 | ||||||
chr15:20851394
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+2663G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851394 | ||||||
chr15:20851397
|
G | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1015+2660C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851397 | ||||||
chr15:20851452
|
G | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1015+2605C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851452 | ||||||
chr15:20852175
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1882G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852175 | ||||||
chr15:20852225
|
A | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1015+1832T>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852225 | ||||||
chr15:20852501
|
T | C | 2 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1556A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852501 | ||||||
chr15:20852583
|
A | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1015+1474T>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852583 | ||||||
chr15:20852584
|
T | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1015+1473A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852584 | ||||||
chr15:20852590
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1467G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852590 | ||||||
chr15:20852646
|
T | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1015+1411A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852646 | ||||||
chr15:20852707
|
G | C | 1 | a0002c0001t0002g0003 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1015+1350C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852707 | ||||||
chr15:20852738
|
A | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1015+1319T>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852738 | ||||||
chr15:20852800
|
A | G | 2 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1257T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852800 | ||||||
chr15:20852957
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.1015+1100T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852957 | ||||||
chr15:20853481
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+576A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20853481 | ||||||
chr15:20854209
|
T | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.945-82A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854209 | ||||||
chr15:20854258
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.945-131T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854258 | ||||||
chr15:20854263
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.945-136G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854263 | ||||||
chr15:20854945
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.945-818T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854945 | ||||||
chr15:20854959
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.945-832C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854959 | ||||||
chr15:20854978
|
T | A | 1 | a0002c0001t0002g0003 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.945-851A>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20854978 | ||||||
chr15:20855100
|
C | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.945-973G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20855100 | ||||||
chr15:20855445
|
T | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.944+1191A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20855445 | ||||||
chr15:20855665
|
A | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.944+971T>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 5/10 | chr15 | 20855665 | ||||||
chr15:20856804
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.807-31C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20856804 | ||||||
chr15:20857127
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.807-354T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857127 | ||||||
chr15:20857164
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.807-391A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857164 | ||||||
chr15:20857173
|
G | C | 1 | a0002c0001t0002g0003 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.807-400C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857173 | ||||||
chr15:20857255
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.807-482A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857255 | ||||||
chr15:20857276
|
T | C | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.807-503A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857276 | ||||||
chr15:20857280
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.807-507G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857280 | ||||||
chr15:20857450
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.806+661T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857450 | ||||||
chr15:20857636
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.806+475T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857636 | ||||||
chr15:20858054
|
A | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.806+57T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20858054 | ||||||
chr15:20858283
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.700-66T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20858283 | ||||||
chr15:20858293
|
G | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.700-76C>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20858293 | ||||||
chr15:20858360
|
A | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.700-143T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20858360 | ||||||
chr15:20859185
|
C | T | 1 | a0001c0002t0002g0004 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.700-968G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859185 | ||||||
chr15:20859326
|
T | TAA | 2 | a0001c0002t0002g0004a0004c0004t0001g0002 | 2 | HG00735.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.700-1111_700-1110d others(4): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859326 | ||||||
chr15:20859581
|
A | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.700-1364T>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859581 | ||||||
chr15:20859677
|
C | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+1365G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859677 | ||||||
chr15:20859866
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+1176T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859866 | ||||||
chr15:20860031
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+1011G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860031 | ||||||
chr15:20860184
|
T | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+858A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860184 | ||||||
chr15:20860252
|
G | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+790C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860252 | ||||||
chr15:20860422
|
CACACACA others(11): Show |
C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+602_699+619del others(18): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860422 | ||||||
chr15:20860455
|
AAAAAC | A | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+582_699+586del others(5): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860455 | ||||||
chr15:20860533
|
G | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+509C>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860533 | ||||||
chr15:20860746
|
A | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.699+296T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860746 | ||||||
chr15:20860772
|
GAA | G | 2 | a0002c0001t0002g0003a0004c0004t0001g0002 | 2 | HG00735.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.699+268_699+269del others(2): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860772 | ||||||
chr15:20860818
|
TTTA | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.699+221_699+223del others(3): Show |
POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860818 | ||||||
chr15:20861602
|
C | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.411-113G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20861602 | ||||||
chr15:20861626
|
C | T | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.411-137G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20861626 | ||||||
chr15:20861825
|
G | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.411-336C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20861825 | ||||||
chr15:20861899
|
A | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.411-410T>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20861899 | ||||||
chr15:20862053
|
T | C | 1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.411-564A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862053 | ||||||
chr15:20862514
|
T | C | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.411-1025A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862514 | ||||||
chr15:20862592
|
T | G | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.411-1103A>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862592 | ||||||
chr15:20862606
|
C | T | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.411-1117G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862606 | ||||||
chr15:20862757
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.411-1268G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862757 | ||||||
chr15:20862876
|
G | A | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.411-1387C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20862876 | ||||||
chr15:20863159
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.411-1670A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20863159 | ||||||
chr15:20863292
|
A | G | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.411-1803T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20863292 | ||||||
chr15:20863774
|
G | A | 1 | a0004c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.410+2098C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20863774 | ||||||
chr15:20864212
|
T | C | 4 | a0001c0002t0002g0004a0002c0001t0002g0003a0003c0003t0001g0001others(1): Show | 4 | HG00735.hp1 HG00735.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.410+1660A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20864212 | ||||||
chr15:20864301
|
T | A | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.410+1571A>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20864301 | ||||||
chr15:20864316
|
C | T | 3 | a0001c0002t0002g0004a0002c0001t0002g0003a0004c0004t0001g0002 | 3 | HG00735.hp1 HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.410+1556G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20864316 | ||||||
chr15:20865604
|
A | G | 1 | a0003c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.410+268T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20865604 | ||||||
chr15:20865815
|
G | A | 1 | a0001c0002t0002g0004 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.410+57C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20865815 | ||||||
chr15:20865863
|
C | T | 2 | a0001c0002t0002g0004a0002c0001t0002g0003 | 2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.410+9G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20865863 |