Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 102723680 |
|---|---|
| ensemblid | ENSG00000270946.6 |
| hgncid | 51262 |
| symbol | CT45A9 |
| name | cancer/testis antigen family 45 member A9 |
| refseq_nuc | NM_001291540.2 |
| refseq_prot | NP_001278469.1 |
| ensembl_nuc | ENST00000620704.5 |
| ensembl_prot | ENSP00000483637.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135863418 |
| end | 135871812 |
| strand | - |
| ver | v1.2 |
| region | chrX:135863418-135871812 |
| region5000 | chrX:135858418-135876812 |
| regionname0 | CT45A9_chrX_135863418_135871812 |
| regionname5000 | CT45A9_chrX_135858418_135876812 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 189 | 7 | 1 | 3 | 2 | 0 | 1 | 2 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0002 | 0/0 | 189 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0003 | 0/0 | 189 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0004 | 0/0 | 132 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0005 | 0/0 | 84 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 570 | 7 | 1 | 3 | 2 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| c0002 | 0/0 | 570 | 2 | 0 | 1 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| c0003 | 0/0 | 570 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| c0004 | 0/0 | 572 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| c0005 | 0/0 | 584 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 799 | 5 | 2 | 3 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| t0002 | 0/0 | 799 | 3 | 1 | 0 | 2 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| t0003 | 0/0 | 799 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| t0004 | 0/0 | 799 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| t0005 | 0/0 | 798 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 570 | 7 | 1 | 3 | 2 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0002c0003 | 0/0 | 570 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0003c0002 | 0/0 | 570 | 2 | 0 | 1 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0004c0005 | 0/0 | 584 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0005c0004 | 0/0 | 572 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1368 | 3 | 0 | 3 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0001c0001t0002 | 0/0 | 1368 | 3 | 1 | 0 | 2 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0001c0001t0005 | 0/0 | 1367 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0002c0003t0001 | 0/0 | 1368 | 2 | 2 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0003c0002t0003 | 0/0 | 1368 | 2 | 0 | 1 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0004c0005t0004 | 0/0 | 1382 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| a0005c0004t0003 | 0/0 | 1370 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | copy fasta | chrX | 135858418 | 135876812 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0001c0001t0005g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0002c0003t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0002c0003t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0003c0002t0003g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0003c0002t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0004c0005t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| a0005c0004t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00642 | hp1 | a0003 | c0002 | t0003 | g0010 | AMR | PUR | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG02040 | hp1 | a0003 | c0002 | t0003 | g0011 | EAS | KHV | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG02735 | hp1 | a0001 | c0001 | t0005 | g0003 | SAS | PJL | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG02965 | hp1 | a0005 | c0004 | t0003 | g0001 | AFR | ESN | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | ESN | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | JPT | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG02486 | hp1 | a0002 | c0003 | t0001 | g0012 | AFR | ACB | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG06807 | hp1 | a0002 | c0003 | t0001 | g0013 | AFR | USA | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| HG06807 | hp2 | a0004 | c0005 | t0004 | g0009 | AFR | USA | CT45A9_chrX_135858418_135876812 | CT45A9 | chrX | 135858418 | 135876812 |
| 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:135865301
|
A | AG | 1 | a0004 | 1 | HG06807.hp2 | frameshift_variant | HIGH | c.461dupC | p.Thr155fs | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/5 | 706/1368 | 461/570 | 154/189 | chrX | 135865301 | ||
| chrX:135865758
|
G | T | 4 | a0001a0003a0004others(1): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
missense_variant | MODERATE | c.385C>A | p.Gln129Lys | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 630/1368 | 385/570 | 129/189 | chrX | 135865758 | ||
| chrX:135865761
|
G | GT | 1 | a0004 | 1 | HG06807.hp2 | frameshift_variant | HIGH | c.381dupA | p.Arg128fs | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 626/1368 | 381/570 | 127/189 | chrX | 135865761 | ||
| chrX:135865784
|
T | C | 3 | a0003a0004a0005 | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
missense_variant | MODERATE | c.359A>G | p.Gln120Arg | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 604/1368 | 359/570 | 120/189 | chrX | 135865784 | ||
| chrX:135865802
|
A | G | 4 | a0001a0003a0004others(1): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
missense_variant | MODERATE | c.341T>C | p.Phe114Ser | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 586/1368 | 341/570 | 114/189 | chrX | 135865802 | ||
| chrX:135865906
|
G | GAA | 1 | a0005 | 1 | HG02965.hp1 | frameshift_variant | HIGH | c.235_236dupTT | p.Lys81fs | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 481/1368 | 236/570 | 79/189 | chrX | 135865906 | ||
| chrX:135865942
|
G | GCTGGGTG others(5): Show |
1 | a0004 | 1 | HG06807.hp2 | disruptive_inframe_insertion | MODERATE | c.189_200dupTATTCCAC others(4): Show |
p.Ser67_Gln68insIleP others(8): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 445/1368 | 200/570 | 67/189 | chrX | 135865942 | ||
| chrX:135867898
|
T | G | 1 | a0001 | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
missense_variant | MODERATE | c.164A>C | p.Glu55Ala | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/5 | 409/1368 | 164/570 | 55/189 | chrX | 135867898 |
| 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:135865286
|
T | C | 3 | a0003c0002a0004c0005a0005c0004 | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
synonymous_variant | LOW | c.477A>G | p.Lys159Lys | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/5 | 722/1368 | 477/570 | 159/189 | chrX | 135865286 |
| 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:135863453
|
TC | T | 1 | a0001c0001t0005 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*517delG | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 5/5 | 517 | chrX | 135863453 | |||||
| chrX:135863456
|
C | T | 4 | a0001c0001t0002a0003c0002t0003a0004c0005t0004others(1): Show | 7 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*515G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 5/5 | 515 | chrX | 135863456 | |||||
| chrX:135863768
|
T | TA | 1 | a0004c0005t0004 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*202dupT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 5/5 | 202 | chrX | 135863768 | |||||
| chrX:135863778
|
TG | T | 1 | a0004c0005t0004 | 1 | HG06807.hp2 | 3_prime_UTR_variant | MODIFIER | c.*192delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 5/5 | 192 | chrX | 135863778 | |||||
| chrX:135863924
|
T | C | 4 | a0001c0001t0005a0003c0002t0003a0004c0005t0004others(1): Show | 5 | HG00642.hp1 HG02040.hp1 HG02735.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*47A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 5/5 | 47 | chrX | 135863924 |
| 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:135864034
|
G | A | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.513-6C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864034 | ||||||
| chrX:135864091
|
G | A | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-63C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864091 | ||||||
| chrX:135864098
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-70G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864098 | ||||||
| chrX:135864099
|
A | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-71T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864099 | ||||||
| chrX:135864175
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.513-147C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864175 | ||||||
| chrX:135864210
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-182G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864210 | ||||||
| chrX:135864227
|
G | A | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(7): Show | 10 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(7): Show |
intron_variant | MODIFIER | c.513-199C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864227 | ||||||
| chrX:135864231
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-203G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864231 | ||||||
| chrX:135864246
|
C | CAACT | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-222_513-219dup others(4): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864246 | ||||||
| chrX:135864261
|
G | C | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.513-233C>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864261 | ||||||
| chrX:135864361
|
G | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-333C>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864361 | ||||||
| chrX:135864384
|
C | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-356G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864384 | ||||||
| chrX:135864385
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-357G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864385 | ||||||
| chrX:135864390
|
C | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-362G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864390 | ||||||
| chrX:135864397
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-369A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864397 | ||||||
| chrX:135864442
|
G | A | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.513-414C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864442 | ||||||
| chrX:135864478
|
C | T | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.513-450G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864478 | ||||||
| chrX:135864691
|
T | TG | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.512+559dupC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864691 | ||||||
| chrX:135864787
|
C | T | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+464G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864787 | ||||||
| chrX:135864839
|
TCC | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+410_512+411del others(2): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864839 | ||||||
| chrX:135864843
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+408G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864843 | ||||||
| chrX:135864975
|
AT | A | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.512+275delA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135864975 | ||||||
| chrX:135865087
|
G | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.512+164C>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135865087 | ||||||
| chrX:135865127
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | 135865127 | ||||||
| chrX:135865356
|
G | GA | 3 | a0003c0002t0003g0011a0004c0005t0004g0009a0005c0004t0003g0001 | 3 | HG02040.hp1 HG02965.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.419-13dupT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | 135865356 | ||||||
| chrX:135865356
|
G | GAA | 1 | a0003c0002t0003g0010 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.419-14_419-13dupTT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | 135865356 | ||||||
| chrX:135865356
|
GA | G | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.419-13delT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | 135865356 | ||||||
| chrX:135865665
|
GA | G | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.418+59delT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | 135865665 | ||||||
| chrX:135865717
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.418+8G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | 135865717 | ||||||
| chrX:135866012
|
GT | G | 1 | a0005c0004t0003g0001 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.170-40delA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866012 | ||||||
| chrX:135866044
|
CT | C | 2 | a0001c0001t0002g0006a0001c0001t0002g0007 | 2 | NA18945.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.170-72delA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866044 | ||||||
| chrX:135866080
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-107A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866080 | ||||||
| chrX:135866160
|
A | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.170-187T>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866160 | ||||||
| chrX:135866185
|
GA | G | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.170-213delT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866185 | ||||||
| chrX:135866325
|
TG | T | 2 | a0004c0005t0004g0009a0005c0004t0003g0001 | 2 | HG02965.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.170-353delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866325 | ||||||
| chrX:135866461
|
A | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-488T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866461 | ||||||
| chrX:135866463
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-490G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866463 | ||||||
| chrX:135866469
|
C | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-496G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866469 | ||||||
| chrX:135866470
|
TC | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-498delG | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866470 | ||||||
| chrX:135866474
|
C | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-501G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866474 | ||||||
| chrX:135866483
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-510A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866483 | ||||||
| chrX:135866502
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-529A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866502 | ||||||
| chrX:135866516
|
G | A | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-543C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866516 | ||||||
| chrX:135866528
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866528 | ||||||
| chrX:135866530
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-557A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866530 | ||||||
| chrX:135866537
|
T | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-564A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866537 | ||||||
| chrX:135866540
|
A | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-567T>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866540 | ||||||
| chrX:135866547
|
A | G | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-574T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866547 | ||||||
| chrX:135866557
|
G | C | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-584C>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866557 | ||||||
| chrX:135866601
|
CT | C | 1 | a0005c0004t0003g0001 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.170-629delA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866601 | ||||||
| chrX:135866658
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.170-685A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866658 | ||||||
| chrX:135866659
|
G | A | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-686C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866659 | ||||||
| chrX:135866856
|
T | TG | 1 | a0005c0004t0003g0001 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.170-884dupC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866856 | ||||||
| chrX:135866934
|
AG | A | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+958delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866934 | ||||||
| chrX:135866952
|
C | CG | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+940dupC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135866952 | ||||||
| chrX:135867024
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.169+869C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867024 | ||||||
| chrX:135867200
|
AG | A | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+692delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867200 | ||||||
| chrX:135867235
|
TG | T | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+657delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867235 | ||||||
| chrX:135867251
|
A | T | 4 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.169+642T>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867251 | ||||||
| chrX:135867276
|
TG | T | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+616delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867276 | ||||||
| chrX:135867300
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.169+593C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867300 | ||||||
| chrX:135867377
|
TG | T | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+515delC | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867377 | ||||||
| chrX:135867417
|
T | TA | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.169+475_169+476ins others(1): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867417 | ||||||
| chrX:135867536
|
C | G | 3 | a0003c0002t0003g0010a0003c0002t0003g0011a0005c0004t0003g0001 | 3 | HG00642.hp1 HG02040.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.169+357G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867536 | ||||||
| chrX:135867703
|
T | TA | 4 | a0001c0001t0001g0005a0001c0001t0002g0007a0001c0001t0002g0008others(1): Show | 4 | HG00741.hp1 HG02735.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.169+189dupT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867703 | ||||||
| chrX:135867703
|
T | TAA | 1 | a0001c0001t0001g0004 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.169+188_169+189dup others(2): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867703 | ||||||
| chrX:135867821
|
C | CT | 1 | a0001c0001t0001g0002 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.169+71dupA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 2/4 | chrX | 135867821 | ||||||
| chrX:135868221
|
C | G | 1 | a0003c0002t0003g0011 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-6-154G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135868221 | ||||||
| chrX:135868557
|
A | G | 1 | a0002c0003t0001g0012 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-6-490T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135868557 | ||||||
| chrX:135868716
|
A | G | 1 | a0001c0001t0002g0008 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-6-649T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135868716 | ||||||
| chrX:135869015
|
A | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-948T>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869015 | ||||||
| chrX:135869063
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-996G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869063 | ||||||
| chrX:135869117
|
T | G | 5 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(2): Show | 5 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.-6-1050A>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869117 | ||||||
| chrX:135869335
|
A | G | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6-1268T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869335 | ||||||
| chrX:135869362
|
T | C | 1 | a0005c0004t0003g0001 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-6-1295A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869362 | ||||||
| chrX:135869485
|
TTAC | T | 1 | a0003c0002t0003g0010 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-6-1421_-6-1419del others(3): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869485 | ||||||
| chrX:135869488
|
C | CT | 1 | a0001c0001t0001g0005 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.-6-1422dupA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869488 | ||||||
| chrX:135869488
|
C | CTT | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0005g0003others(1): Show | 4 | HG00738.hp1 HG00741.hp2 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.-6-1423_-6-1422dup others(2): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869488 | ||||||
| chrX:135869488
|
C | CTTT | 5 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(2): Show | 5 | HG02040.hp1 HG03139.hp1 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.-6-1424_-6-1422dup others(3): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869488 | ||||||
| chrX:135869488
|
CT | C | 1 | a0002c0003t0001g0012 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-6-1422delA | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869488 | ||||||
| chrX:135869503
|
A | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(7): Show | 10 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.-6-1436T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869503 | ||||||
| chrX:135869637
|
C | T | 1 | a0004c0005t0004g0009 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-6-1570G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869637 | ||||||
| chrX:135869693
|
A | C | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6-1626T>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869693 | ||||||
| chrX:135869813
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-1746C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869813 | ||||||
| chrX:135869815
|
G | T | 2 | a0001c0001t0002g0006a0001c0001t0002g0007 | 2 | NA18945.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.-6-1748C>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135869815 | ||||||
| chrX:135870020
|
G | A | 2 | a0003c0002t0003g0011a0004c0005t0004g0009 | 2 | HG02040.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-7+1554C>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870020 | ||||||
| chrX:135870100
|
T | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(1): Show | 4 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.-7+1474A>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870100 | ||||||
| chrX:135870205
|
T | C | 2 | a0003c0002t0003g0010a0005c0004t0003g0001 | 2 | HG00642.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.-7+1369A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870205 | ||||||
| chrX:135870258
|
A | C | 6 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(3): Show | 6 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(3): Show |
intron_variant | MODIFIER | c.-7+1316T>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870258 | ||||||
| chrX:135870366
|
TA | T | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1207delT | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870366 | ||||||
| chrX:135870367
|
A | T | 2 | a0003c0002t0003g0011a0004c0005t0004g0009 | 2 | HG02040.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-7+1207T>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870367 | ||||||
| chrX:135870368
|
A | T | 7 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(4): Show | 7 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1206T>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870368 | ||||||
| chrX:135870539
|
T | C | 9 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 9 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(6): Show |
intron_variant | MODIFIER | c.-7+1035A>G | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870539 | ||||||
| chrX:135870597
|
C | A | 2 | a0003c0002t0003g0011a0004c0005t0004g0009 | 2 | HG02040.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-7+977G>T | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870597 | ||||||
| chrX:135870730
|
A | T | 2 | a0003c0002t0003g0010a0005c0004t0003g0001 | 2 | HG00642.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.-7+844T>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870730 | ||||||
| chrX:135870772
|
C | T | 1 | a0002c0003t0001g0012 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+802G>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870772 | ||||||
| chrX:135870923
|
GCATC | G | 9 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 9 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.-7+647_-7+650delGA others(2): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135870923 | ||||||
| chrX:135871156
|
A | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-7+418T>A | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135871156 | ||||||
| chrX:135871221
|
A | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-7+353T>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135871221 | ||||||
| chrX:135871318
|
C | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.-7+256G>C | CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 1/4 | chrX | 135871318 |