Item | Value |
---|---|
geneid | 23784 |
ensemblid | ENSG00000198062.16 |
hgncid | 133 |
symbol | POTEH |
name | POTE ankyrin domain family member H |
refseq_nuc | NM_001136213.1 |
refseq_prot | NP_001129685.1 |
ensembl_nuc | ENST00000343518.11 |
ensembl_prot | ENSP00000340610.6 |
mane_status | MANE Select |
chr | chr22 |
start | 15690026 |
end | 15721631 |
strand | + |
ver | v1.2 |
region | chr22:15690026-15721631 |
region5000 | chr22:15685026-15726631 |
regionname0 | POTEH_chr22_15690026_15721631 |
regionname5000 | POTEH_chr22_15685026_15726631 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 545 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | MVAEA others(540): Show |
chr22 | 15685026 | 15726631 |
a0002 | 0/0 | 582 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | MVAEA others(577): Show |
chr22 | 15685026 | 15726631 |
a0003 | 0/0 | 545 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | MVAEA others(540): Show |
chr22 | 15685026 | 15726631 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 1/0 | 1635 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | ATGGT others(1630): Show |
chr22 | 15685026 | 15726631 | ||
a0002c0001 | 0/0 | 1746 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | ATGGT others(1741): Show |
chr22 | 15685026 | 15726631 | ||
a0003c0003 | 0/0 | 1635 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | ATGGT others(1630): Show |
chr22 | 15685026 | 15726631 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001 | 1/0 | 2037 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | GGTAG others(2032): Show |
chr22 | 15685026 | 15726631 |
a0002c0001t0002 | 0/0 | 2148 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | GGTAG others(2143): Show |
chr22 | 15685026 | 15726631 |
a0003c0003t0001 | 0/0 | 2037 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | GGTAG others(2032): Show |
chr22 | 15685026 | 15726631 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
a0002c0001t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
a0003c0003t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
NA21309 | hp1 | a0002 | c0001 | t0002 | g0003 | AFR | LWK | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
NA21309 | hp2 | a0003 | c0003 | t0001 | g0001 | AFR | LWK | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0002 | REF | REF | POTEH_chr22_15685026_15726631 | POTEH | chr22 | 15685026 | 15726631 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:15690174 | G | C | 1 | a0002 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.97G>C | p.Ala33Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 149/2037 | 97/1638 | 33/545 | chr22 | 15690174 | |||
chr22:15690273 | T | C | 1 | a0002 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.196T>C | p.Cys66Arg | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 248/2037 | 196/1638 | 66/545 | chr22 | 15690273 | |||
chr22:15690401 | C | CTGCAGGG others(104): Show |
1 | a0002 | 1 | NA21309.hp1 | disruptive_inframe_insertion | MODERATE | c.347_348insGGTGGGCA others(103): Show |
p.Ser115_Asn116insLy others(109): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 400/2037 | 348/1638 | 116/545 | INFO_REALIGN_3_PRIME | chr22 | 15690401 | ||
chr22:15690532 | A | G | 1 | a0002 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.455A>G | p.Asn152Ser | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 507/2037 | 455/1638 | 152/545 | chr22 | 15690532 | |||
chr22:15695450 | A | G | 1 | a0003 | 1 | NA21309.hp2 | missense_variant | MODERATE | c.712A>G | p.Ile238Val | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/11 | 764/2037 | 712/1638 | 238/545 | chr22 | 15695450 | |||
chr22:15695784 | T | C | 1 | a0002 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.887T>C | p.Leu296Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/11 | 939/2037 | 887/1638 | 296/545 | chr22 | 15695784 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:15690341 | T | C | 1 | a0002c0001 | 1 | NA21309.hp1 | synonymous_variant | LOW | c.264T>C | p.Asp88Asp | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 316/2037 | 264/1638 | 88/545 | chr22 | 15690341 | |||
chr22:15695401 | A | G | 1 | a0003c0003 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.663A>G | p.Gly221Gly | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/11 | 715/2037 | 663/1638 | 221/545 | chr22 | 15695401 | |||
chr22:15695704 | G | A | 1 | a0003c0003 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.807G>A | p.Pro269Pro | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/11 | 859/2037 | 807/1638 | 269/545 | chr22 | 15695704 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:15690058 | T | C | 1 | a0002c0001t0002 | 1 | NA21309.hp1 | 5_prime_UTR_variant | MODIFIER | c.-20T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/11 | 20 | chr22 | 15690058 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:15690774 | C | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+65C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690774 | |||||||
chr22:15690800 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+91T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690800 | |||||||
chr22:15690807 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+98A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690807 | |||||||
chr22:15690914 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+205C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690914 | |||||||
chr22:15690924 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+215T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690924 | |||||||
chr22:15690936 | G | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+227G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690936 | |||||||
chr22:15690970 | G | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+261G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15690970 | |||||||
chr22:15691331 | T | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+622T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691331 | |||||||
chr22:15691450 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+741T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691450 | |||||||
chr22:15691451 | G | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+742G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691451 | |||||||
chr22:15691492 | G | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+783G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691492 | |||||||
chr22:15691494 | A | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+785A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691494 | |||||||
chr22:15691764 | C | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1055C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691764 | |||||||
chr22:15691820 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1111T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691820 | |||||||
chr22:15691981 | G | GATATATA others(185): Show |
1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1275_632+1276i others(194): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | 15691981 | ||||||
chr22:15691985 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1276C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15691985 | |||||||
chr22:15692075 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1366A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692075 | |||||||
chr22:15692162 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1453A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692162 | |||||||
chr22:15692243 | G | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.632+1534G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692243 | |||||||
chr22:15692294 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1585C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692294 | |||||||
chr22:15692421 | G | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1712G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692421 | |||||||
chr22:15692613 | C | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+1904C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692613 | |||||||
chr22:15692762 | A | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2053A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692762 | |||||||
chr22:15692767 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2058A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692767 | |||||||
chr22:15692769 | C | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2060C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692769 | |||||||
chr22:15692908 | A | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.632+2199A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15692908 | |||||||
chr22:15693106 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-2265C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693106 | |||||||
chr22:15693700 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-1671A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693700 | |||||||
chr22:15693909 | T | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-1462T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15693909 | |||||||
chr22:15694521 | A | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-850A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694521 | |||||||
chr22:15694524 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-847T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694524 | |||||||
chr22:15694663 | C | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-708C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694663 | |||||||
chr22:15694706 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.633-665T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694706 | |||||||
chr22:15694784 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-587G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694784 | |||||||
chr22:15694937 | C | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-434C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694937 | |||||||
chr22:15694946 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-425T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15694946 | |||||||
chr22:15695210 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-161A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695210 | |||||||
chr22:15695271 | C | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-100C>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695271 | |||||||
chr22:15695299 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.633-72G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695299 | |||||||
chr22:15695363 | C | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | splice_region_variant&intron_variant | LOW | c.633-8C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 1/10 | chr22 | 15695363 | |||||||
chr22:15695500 | A | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+15A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695500 | |||||||
chr22:15695506 | T | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+21T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695506 | |||||||
chr22:15695515 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.747+30A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 2/10 | chr22 | 15695515 | |||||||
chr22:15695975 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.921+157T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15695975 | |||||||
chr22:15696106 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+288A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696106 | |||||||
chr22:15696196 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+378T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696196 | |||||||
chr22:15696413 | T | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+595T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696413 | |||||||
chr22:15696429 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+611A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15696429 | |||||||
chr22:15697033 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.921+1215A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697033 | |||||||
chr22:15697150 | G | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.921+1332G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697150 | |||||||
chr22:15697469 | T | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.922-1193T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697469 | |||||||
chr22:15697708 | CTATCAGG others(5): Show |
C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.922-941_922-930del others(12): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr22 | 15697708 | ||||||
chr22:15697880 | A | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.922-782A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 3/10 | chr22 | 15697880 | |||||||
chr22:15698895 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1028+127C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15698895 | |||||||
chr22:15699016 | A | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1028+248A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15699016 | |||||||
chr22:15699563 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-515C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15699563 | |||||||
chr22:15700032 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-46A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15700032 | |||||||
chr22:15700040 | A | C | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1029-38A>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 4/10 | chr22 | 15700040 | |||||||
chr22:15700331 | T | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1166+116T>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15700331 | |||||||
chr22:15701842 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-844G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15701842 | |||||||
chr22:15702430 | T | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-256T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702430 | |||||||
chr22:15702479 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-207A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702479 | |||||||
chr22:15702617 | C | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1167-69C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 5/10 | chr22 | 15702617 | |||||||
chr22:15703232 | G | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+476G>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15703232 | |||||||
chr22:15704181 | G | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+1425G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704181 | |||||||
chr22:15704277 | C | T | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1237+1521C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704277 | |||||||
chr22:15704567 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1237+1811T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15704567 | |||||||
chr22:15705455 | C | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2565C>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705455 | |||||||
chr22:15705477 | T | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2543T>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705477 | |||||||
chr22:15705997 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-2023A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15705997 | |||||||
chr22:15706376 | G | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-1644G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15706376 | |||||||
chr22:15707016 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-1004A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707016 | |||||||
chr22:15707164 | G | A | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1238-856G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707164 | |||||||
chr22:15707882 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1238-138A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 6/10 | chr22 | 15707882 | |||||||
chr22:15708134 | A | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+44A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708134 | |||||||
chr22:15708158 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+68A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708158 | |||||||
chr22:15708364 | A | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+274A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708364 | |||||||
chr22:15708479 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1308+389G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708479 | |||||||
chr22:15708946 | GTTAAAGA others(11): Show |
G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-833_1309-816d others(20): Show |
POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr22 | 15708946 | ||||||
chr22:15708998 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-784T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15708998 | |||||||
chr22:15709249 | G | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-533G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709249 | |||||||
chr22:15709335 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-447G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709335 | |||||||
chr22:15709358 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-424A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709358 | |||||||
chr22:15709482 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-300T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709482 | |||||||
chr22:15709582 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1309-200G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709582 | |||||||
chr22:15709668 | A | G | 1 | a0002c0001t0002g0003 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1309-114A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 7/10 | chr22 | 15709668 | |||||||
chr22:15709852 | C | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+26C>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15709852 | |||||||
chr22:15710038 | A | G | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+212A>G | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710038 | |||||||
chr22:15710048 | G | A | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+222G>A | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710048 | |||||||
chr22:15710248 | A | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1353+422A>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710248 | |||||||
chr22:15710425 | T | C | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1354-443T>C | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710425 | |||||||
chr22:15710496 | G | T | 1 | a0003c0003t0001g0001 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1354-372G>T | POTEH | ENSG00000198062.16 | transcript | ENST00000343518.11 | protein_coding | 8/10 | chr22 | 15710496 |