Item | Value |
---|---|
geneid | 102723737 |
ensemblid | ENSG00000278085.5 |
hgncid | 51261 |
symbol | CT45A8 |
name | cancer/testis antigen family 45 member A8 |
refseq_nuc | NM_001291535.1 |
refseq_prot | NP_001278464.1 |
ensembl_nuc | ENST00000611660.5 |
ensembl_prot | ENSP00000481184.1 |
mane_status | MANE Select |
chr | chrX |
start | 135846497 |
end | 135854538 |
strand | - |
ver | v1.2 |
region | chrX:135846497-135854538 |
region5000 | chrX:135841497-135859538 |
regionname0 | CT45A8_chrX_135846497_135854538 |
regionname5000 | CT45A8_chrX_135841497_135859538 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 189 | 6 | 1 | 0 | 4 | 1 | 0 | 3 | CT45A8_chrX_135841497_135859538 | CT45A8 | MTDKT others(184): Show |
chrX | 135841497 | 135859538 |
a0002 | 0/0 | 189 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | MTDKT others(184): Show |
chrX | 135841497 | 135859538 |
a0003 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | MTDKT others(184): Show |
chrX | 135841497 | 135859538 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 567 | 5 | 1 | 0 | 4 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | ATGAC others(562): Show |
chrX | 135841497 | 135859538 | ||
a0001c0004 | 0/0 | 567 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | ATGAC others(562): Show |
chrX | 135841497 | 135859538 | ||
a0002c0003 | 0/0 | 567 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | ATGAC others(562): Show |
chrX | 135841497 | 135859538 | ||
a0003c0002 | 0/0 | 567 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | ATGAC others(562): Show |
chrX | 135841497 | 135859538 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1010 | 4 | 0 | 0 | 4 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | AGTGT others(1005): Show |
chrX | 135841497 | 135859538 |
a0001c0001t0002 | 0/0 | 1010 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | AGTGT others(1005): Show |
chrX | 135841497 | 135859538 |
a0001c0004t0001 | 0/0 | 1010 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | AGTGT others(1005): Show |
chrX | 135841497 | 135859538 |
a0002c0003t0001 | 0/0 | 1010 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | AGTGT others(1005): Show |
chrX | 135841497 | 135859538 |
a0003c0002t0001 | 0/0 | 1010 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | AGTGT others(1005): Show |
chrX | 135841497 | 135859538 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0001c0001t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0001c0004t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0002c0003t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
a0003c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0001 | c0004 | t0001 | g0003 | EUR | FIN | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
HG00438 | hp2 | a0003 | c0002 | t0001 | g0004 | EAS | CHS | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
HG03139 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | ESN | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
HG02486 | hp1 | a0002 | c0003 | t0001 | g0007 | AFR | ACB | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:135848479 | G | T | 2 | a0001 a0003 |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
missense_variant | MODERATE | c.385C>A | p.Gln129Lys | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 630/1010 | 385/570 | 129/189 | chrX | 135848479 | |||
chrX:135848523 | A | G | 2 | a0001 a0003 |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
missense_variant | MODERATE | c.341T>C | p.Phe114Ser | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 586/1010 | 341/570 | 114/189 | chrX | 135848523 | |||
chrX:135850620 | T | G | 1 | a0001 | 6 | HG00280.hp1 HG00438.hp1 HG03139.hp1 others(3): Show |
missense_variant | MODERATE | c.164A>C | p.Glu55Ala | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/5 | 409/1010 | 164/570 | 55/189 | chrX | 135850620 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:135848486 | T | A | 1 | a0001c0004 | 1 | HG00280.hp1 | synonymous_variant | LOW | c.378A>T | p.Ile126Ile | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 623/1010 | 378/570 | 126/189 | chrX | 135848486 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:135854464 | C | G | 1 | a0001c0001t0002 | 1 | HG03139.hp1 | 5_prime_UTR_variant | MODIFIER | c.-171G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/5 | 3681 | chrX | 135854464 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:135846752 | GA | G | 2 | a0001c0001t0001g0006 a0003c0002t0001g0004 |
2 | HG00438.hp2 NA18983.hp1 |
splice_region_variant&intron_variant | LOW | c.513-4delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846752 | |||||||
chrX:135846896 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.513-147C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846896 | |||||||
chrX:135846948 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 |
4 | HG00438.hp1 NA18983.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-199C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846948 | |||||||
chrX:135847010 | T | A | 1 | a0001c0001t0001g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-261A>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847010 | |||||||
chrX:135847199 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.513-450G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847199 | |||||||
chrX:135847268 | G | A | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-519C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847268 | |||||||
chrX:135847270 | T | G | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-521A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847270 | |||||||
chrX:135847271 | C | T | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-522G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847271 | |||||||
chrX:135847455 | A | T | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+517T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847455 | |||||||
chrX:135847508 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+464G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847508 | |||||||
chrX:135847560 | TCC | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+410_512+411del others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847560 | |||||||
chrX:135847564 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+408G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847564 | |||||||
chrX:135847765 | A | T | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+207T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847765 | |||||||
chrX:135847766 | T | A | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+206A>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847766 | |||||||
chrX:135847767 | G | T | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+205C>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847767 | |||||||
chrX:135847848 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847848 | |||||||
chrX:135848077 | GA | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-13delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/4 | chrX | 135848077 | |||||||
chrX:135848804 | A | C | 1 | a0001c0001t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.170-110T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135848804 | |||||||
chrX:135848881 | A | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-187T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135848881 | |||||||
chrX:135849249 | T | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849249 | |||||||
chrX:135849379 | T | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-685A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849379 | |||||||
chrX:135849380 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-686C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849380 | |||||||
chrX:135849665 | C | T | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+950G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849665 | |||||||
chrX:135850021 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.169+594C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850021 | |||||||
chrX:135850043 | A | AT | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.169+571dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850043 | |||||||
chrX:135850049 | A | G | 1 | a0001c0001t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.169+566T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850049 | |||||||
chrX:135850373 | C | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+242G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850373 | |||||||
chrX:135850423 | T | TAA | 3 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 |
4 | HG00438.hp1 HG03139.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+190_169+191dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850423 | |||||||
chrX:135850486 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.169+129T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850486 | |||||||
chrX:135850561 | T | C | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+54A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850561 | |||||||
chrX:135850595 | G | A | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+20C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850595 | |||||||
chrX:135850604 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 |
4 | HG00438.hp1 HG03139.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+11C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850604 | |||||||
chrX:135851162 | A | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-373T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851162 | |||||||
chrX:135851438 | A | G | 1 | a0003c0002t0001g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-6-649T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851438 | |||||||
chrX:135851737 | A | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(2): Show |
6 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6-948T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851737 | |||||||
chrX:135851785 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6-996G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851785 | |||||||
chrX:135851839 | T | G | 2 | a0001c0001t0001g0006 a0001c0001t0002g0002 |
2 | HG03139.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-6-1050A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851839 | |||||||
chrX:135851976 | A | AGCAATTC others(28): Show |
1 | a0001c0001t0001g0001 | 2 | NA18990.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-6-1222_-6-1188dup others(35): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851976 | |||||||
chrX:135852057 | A | G | 2 | a0001c0001t0002g0002 a0001c0004t0001g0003 |
2 | HG00280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-6-1268T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852057 | |||||||
chrX:135852084 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1295A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852084 | |||||||
chrX:135852187 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1398A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852187 | |||||||
chrX:135852189 | T | G | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1400A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852189 | |||||||
chrX:135852209 | A | T | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-1420T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852209 | |||||||
chrX:135852210 | C | CTT | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1423_-6-1422dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852210 | |||||||
chrX:135852210 | C | T | 1 | a0001c0004t0001g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-1421G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852210 | |||||||
chrX:135852225 | A | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6-1436T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852225 | |||||||
chrX:135852415 | A | C | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6-1626T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852415 | |||||||
chrX:135852600 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1700C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852600 | |||||||
chrX:135852685 | C | T | 1 | a0001c0001t0001g0001 | 2 | NA18990.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-7+1615G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852685 | |||||||
chrX:135852704 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1596T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852704 | |||||||
chrX:135852946 | G | A | 1 | a0002c0003t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+1354C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852946 | |||||||
chrX:135853091 | A | T | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+1209T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853091 | |||||||
chrX:135853261 | T | C | 4 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-7+1039A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853261 | |||||||
chrX:135853446 | TCAAC | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+850_-7+853delGT others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853446 | |||||||
chrX:135853649 | GCATC | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+647_-7+650delGA others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853649 | |||||||
chrX:135853882 | A | T | 5 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show |
6 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(3): Show |
intron_variant | MODIFIER | c.-7+418T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853882 | |||||||
chrX:135854013 | G | A | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+287C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854013 | |||||||
chrX:135854044 | C | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+256G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854044 | |||||||
chrX:135854076 | C | G | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+224G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854076 |