Item | Value |
---|---|
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 | 544 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEB2_chr15_20830372_20871314 | POTEB2 | MVAEV others(539): Show |
chr15 | 20830372 | 20871314 |
a0002 | 0/0 | 544 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | MVAEV others(539): Show |
chr15 | 20830372 | 20871314 |
a0003 | 0/0 | 544 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | MVAEV others(539): Show |
chr15 | 20830372 | 20871314 |
a0004 | 0/0 | 441 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEB2_chr15_20830372_20871314 | POTEB2 | MVAEV others(436): Show |
chr15 | 20830372 | 20871314 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0003 | 0/0 | 1632 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | ATGGT others(1627): Show |
chr15 | 20830372 | 20871314 | ||
a0002c0004 | 0/0 | 1632 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | ATGGT others(1627): Show |
chr15 | 20830372 | 20871314 | ||
a0003c0001 | 0/0 | 1632 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | ATGGT others(1627): Show |
chr15 | 20830372 | 20871314 | ||
a0004c0002 | 0/0 | 1632 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | ATGGT others(1627): Show |
chr15 | 20830372 | 20871314 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0003t0001 | 0/0 | 1687 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | CTACT others(1682): Show |
chr15 | 20830372 | 20871314 |
a0002c0004t0001 | 0/0 | 1687 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | CTACT others(1682): Show |
chr15 | 20830372 | 20871314 |
a0003c0001t0002 | 0/0 | 1687 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | CTGCT others(1682): Show |
chr15 | 20830372 | 20871314 |
a0004c0002t0002 | 0/0 | 1687 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | CTGCT others(1682): Show |
chr15 | 20830372 | 20871314 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0003t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0002c0004t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0003c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
a0004c0002t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 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 | a0002 | c0004 | t0001 | g0002 | AMR | PUR | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
HG00735 | hp2 | a0003 | c0001 | t0002 | g0003 | AMR | PUR | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
NA19002 | hp1 | a0004 | c0002 | t0002 | g0004 | EAS | JPT | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
NA19002 | hp2 | a0001 | c0003 | t0001 | g0001 | EAS | JPT | POTEB2_chr15_20830372_20871314 | POTEB2 | chr15 | 20830372 | 20871314 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20837317 | C | T | 3 | a0002 a0003 a0004 |
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 | a0004 | 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 | a0002 a0003 a0004 |
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 | a0002 | 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 | a0002 a0003 a0004 |
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 | a0004 | 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 | a0003 a0004 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20856671 | T | C | 2 | a0001c0003 a0002c0004 |
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 | a0002c0004 | 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 | a0003c0001 a0004c0002 |
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 | a0001c0003 a0003c0001 a0004c0002 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20866312 | T | C | 2 | a0003c0001t0002 a0004c0002t0002 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:20836077 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20836201 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1423-615C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 10/10 | chr15 | 20836218 | |||||||
chr15:20836784 | C | T | 1 | a0002c0004t0001g0002 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 |
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 | a0002c0004t0001g0002 | 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(38): Show |
1 | a0001c0003t0001g0001 | 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 | a0001c0003t0001g0001 | 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 | a0004c0002t0002g0004 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20837901 | T | C | 2 | a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20839868 | TTATATAT others(27): Show |
T | 1 | a0004c0002t0002g0004 | 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 | |||||||
chr15:20841310 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20841367 | T | C | 1 | a0002c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1299-4000A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841367 | |||||||
chr15:20841642 | C | T | 1 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+4191G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20841642 | |||||||
chr15:20841998 | CA | C | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 | 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 | a0001c0003t0001g0001 a0002c0004t0001g0002 a0003c0001t0002g0003 |
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 | |||||||
chr15:20842908 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+2125C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20843708 | |||||||
chr15:20844801 | C | G | 1 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1298+1032G>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 9/10 | chr15 | 20844801 | |||||||
chr15:20846206 | TAA | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20847838 | A | G | 1 | a0001c0003t0001g0001 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 |
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 | a0001c0003t0001g0001 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20849140 | T | C | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20849478 | C | CT | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0003c0001t0002g0003 | 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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1016-2527C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851090 | |||||||
chr15:20851319 | T | C | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.1015+2660C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20851397 | |||||||
chr15:20852175 | C | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20852501 | T | C | 2 | a0003c0001t0002g0003 a0004c0002t0002g0004 |
2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1556A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852501 | |||||||
chr15:20852590 | C | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 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 | a0003c0001t0002g0003 | 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 | a0001c0003t0001g0001 | 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 | a0003c0001t0002g0003 a0004c0002t0002g0004 |
2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1015+1257T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 6/10 | chr15 | 20852800 | |||||||
chr15:20853481 | T | C | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20854959 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0003c0001t0002g0003 | 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 | a0001c0003t0001g0001 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0003c0001t0002g0003 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.807-400C>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857173 | |||||||
chr15:20857276 | T | C | 1 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.807-503A>G | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 4/10 | chr15 | 20857276 | |||||||
chr15:20857450 | A | G | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20858293 | G | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 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 | a0004c0002t0002g0004 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.700-968G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20859185 | |||||||
chr15:20859581 | A | C | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20860031 | C | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20860252 | G | A | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.699+296T>C | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 3/10 | chr15 | 20860746 | |||||||
chr15:20860818 | TTTA | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 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 | a0001c0003t0001g0001 | 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 | a0001c0003t0001g0001 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.411-336C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20861825 | |||||||
chr15:20862053 | T | C | 1 | a0002c0004t0001g0002 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20862757 | C | T | 3 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | |||||||
chr15:20863774 | G | A | 1 | a0002c0004t0001g0002 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.410+2098C>T | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20863774 | |||||||
chr15:20864301 | T | A | 1 | a0001c0003t0001g0001 | 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 | a0002c0004t0001g0002 a0003c0001t0002g0003 a0004c0002t0002g0004 |
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 | a0001c0003t0001g0001 | 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 | a0004c0002t0002g0004 | 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 | a0003c0001t0002g0003 a0004c0002t0002g0004 |
2 | HG00735.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.410+9G>A | POTEB2 | ENSG00000230031.10 | transcript | ENST00000454856.4 | protein_coding | 1/10 | chr15 | 20865863 |