Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 84210 |
|---|---|
| ensemblid | ENSG00000260691.8 |
| hgncid | 23665 |
| symbol | ANKRD20A1 |
| name | ankyrin repeat domain 20 family member A1 |
| refseq_nuc | NM_032250.5 |
| refseq_prot | NP_115626.2 |
| ensembl_nuc | ENST00000562196.6 |
| ensembl_prot | ENSP00000477695.1 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 67858931 |
| end | 67902394 |
| strand | + |
| ver | v1.2 |
| region | chr9:67858931-67902394 |
| region5000 | chr9:67853931-67907394 |
| regionname0 | ANKRD20A1_chr9_67858931_67902394 |
| regionname5000 | ANKRD20A1_chr9_67853931_67907394 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 823 | 5 | 4 | 0 | 1 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0002 | 0/0 | 378 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0003 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0004 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0005 | 1/0 | 823 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 2472 | 5 | 4 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| c0002 | 1/0 | 2472 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| c0003 | 0/0 | 2472 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| c0004 | 0/0 | 2472 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| c0005 | 0/0 | 2472 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 1371 | 4 | 3 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| t0002 | 0/0 | 1371 | 3 | 2 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| t0003 | 0/0 | 1371 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| t0004 | 1/0 | 1424 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2472 | 5 | 4 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0002c0005 | 0/0 | 2472 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0003c0004 | 0/0 | 2472 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0004c0003 | 0/0 | 2472 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0005c0002 | 1/0 | 2472 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0001c0001t0002 | 0/0 | 3842 | 3 | 2 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0001c0001t0003 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0002c0005t0001 | 0/0 | 3842 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0003c0004t0001 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0004c0003t0001 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| a0005c0002t0004 | 1/0 | 3895 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | copy fasta | chr9 | 67853931 | 67907394 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0001c0001t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0001c0001t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0002c0005t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0003c0004t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0004c0003t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| a0005c0002t0004g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | CHS | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| HG00597 | hp2 | a0002 | c0005 | t0001 | g0007 | EAS | CHS | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| HG02922 | hp2 | a0004 | c0003 | t0001 | g0003 | AFR | ESN | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| NA19240 | hp1 | a0001 | c0001 | t0003 | g0001 | AFR | YRI | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| NA19240 | hp2 | a0003 | c0004 | t0001 | g0004 | AFR | YRI | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| homoSapiens_grch38 | hp1 | a0005 | c0002 | t0004 | g0002 | REF | REF | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:67862963
|
A | G | 4 | a0001a0002a0003others(1): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
missense_variant | MODERATE | c.226A>G | p.Thr76Ala | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 2/15 | 722/3895 | 226/2472 | 76/823 | chr9 | 67862963 | ||
| chr9:67863009
|
G | A | 1 | a0004 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.272G>A | p.Cys91Tyr | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 2/15 | 768/3895 | 272/2472 | 91/823 | chr9 | 67863009 | ||
| chr9:67893489
|
G | T | 1 | a0002 | 1 | HG00597.hp2 | stop_gained | HIGH | c.1135G>T | p.Glu379* | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 12/15 | 1631/3895 | 1135/2472 | 379/823 | chr9 | 67893489 | ||
| chr9:67899325
|
T | C | 1 | a0003 | 1 | NA19240.hp2 | missense_variant&splice_region_variant | MODERATE | c.1495T>C | p.Trp499Arg | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 14/15 | 1991/3895 | 1495/2472 | 499/823 | chr9 | 67899325 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:67859561
|
C | T | 4 | a0001c0001a0002c0005a0003c0004others(1): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
synonymous_variant | LOW | c.135C>T | p.Asp45Asp | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 631/3895 | 135/2472 | 45/823 | chr9 | 67859561 | ||
| chr9:67859583
|
C | T | 4 | a0001c0001a0002c0005a0003c0004others(1): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
synonymous_variant | LOW | c.157C>T | p.Leu53Leu | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 653/3895 | 157/2472 | 53/823 | chr9 | 67859583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:67858934
|
T | C | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-493T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 493 | chr9 | 67858934 | |||||
| chr9:67859017
|
C | T | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-410C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | chr9 | 67859017 | ||||||
| chr9:67859055
|
C | T | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-372C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 372 | chr9 | 67859055 | |||||
| chr9:67859076
|
CCGGCAGC others(46): Show |
C | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-340_-288delCGCGGT others(47): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 288 | INFO_REALIGN_3_PRIME | chr9 | 67859076 | ||||
| chr9:67859134
|
A | T | 1 | a0001c0001t0003 | 1 | NA19240.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-293A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | chr9 | 67859134 | ||||||
| chr9:67859261
|
C | T | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-166C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 166 | chr9 | 67859261 | |||||
| chr9:67859262
|
C | T | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-165C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 165 | chr9 | 67859262 | |||||
| chr9:67859264
|
T | C | 2 | a0001c0001t0002a0001c0001t0003 | 4 | HG00597.hp1 HG03098.hp1 HG03098.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-163T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 163 | chr9 | 67859264 | |||||
| chr9:67859382
|
C | T | 6 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-45C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 45 | chr9 | 67859382 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr9:67859640
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+11C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67859640 | ||||||
| chr9:67859702
|
T | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+73T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67859702 | ||||||
| chr9:67859902
|
A | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+273A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67859902 | ||||||
| chr9:67859906
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+277C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67859906 | ||||||
| chr9:67859995
|
A | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+366A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67859995 | ||||||
| chr9:67860005
|
AT | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+385delT | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | 67860005 | |||||
| chr9:67860008
|
T | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+379T>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860008 | ||||||
| chr9:67860034
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+405C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860034 | ||||||
| chr9:67860059
|
CTT | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+445_203+446del others(2): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | 67860059 | |||||
| chr9:67860081
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+452A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860081 | ||||||
| chr9:67860172
|
T | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+543T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860172 | ||||||
| chr9:67860300
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+671A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860300 | ||||||
| chr9:67860362
|
A | G | 1 | a0001c0001t0002g0008 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.203+733A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860362 | ||||||
| chr9:67860409
|
C | CATATA | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+784_203+785ins others(5): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | 67860409 | |||||
| chr9:67860472
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+843G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67860472 | ||||||
| chr9:67860949
|
GA | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+1327delA | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | 67860949 | |||||
| chr9:67861198
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+1569C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861198 | ||||||
| chr9:67861202
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+1573A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861202 | ||||||
| chr9:67861260
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+1631G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861260 | ||||||
| chr9:67861279
|
T | TC | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.203+1651dupC | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | 67861279 | |||||
| chr9:67861530
|
G | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.204-1411G>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861530 | ||||||
| chr9:67861540
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.204-1401G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861540 | ||||||
| chr9:67861591
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.204-1350A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861591 | ||||||
| chr9:67861848
|
T | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.204-1093T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67861848 | ||||||
| chr9:67862298
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.204-643A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/14 | chr9 | 67862298 | ||||||
| chr9:67863149
|
T | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.319-69T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 2/14 | chr9 | 67863149 | ||||||
| chr9:67863472
|
A | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+81A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863472 | ||||||
| chr9:67863520
|
C | CTTAA | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+131_492+132ins others(4): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | 67863520 | |||||
| chr9:67863562
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+171G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863562 | ||||||
| chr9:67863594
|
T | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+203T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863594 | ||||||
| chr9:67863660
|
C | CTT | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+283_492+284dup others(2): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | 67863660 | |||||
| chr9:67863704
|
T | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+313T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863704 | ||||||
| chr9:67863721
|
A | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+330A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863721 | ||||||
| chr9:67863941
|
T | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+550T>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67863941 | ||||||
| chr9:67864016
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+625G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864016 | ||||||
| chr9:67864121
|
A | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+730A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864121 | ||||||
| chr9:67864519
|
A | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1128A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864519 | ||||||
| chr9:67864658
|
CAAAAA | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1280_492+1284d others(7): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | 67864658 | |||||
| chr9:67864675
|
A | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1284A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864675 | ||||||
| chr9:67864678
|
C | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1287C>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864678 | ||||||
| chr9:67864823
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1432A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864823 | ||||||
| chr9:67864825
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1434A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864825 | ||||||
| chr9:67864923
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1532G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67864923 | ||||||
| chr9:67865316
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.492+1925C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67865316 | ||||||
| chr9:67865428
|
A | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.493-1849A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67865428 | ||||||
| chr9:67865644
|
C | T | 7 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(4): Show | 7 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.493-1633C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67865644 | ||||||
| chr9:67865684
|
G | C | 2 | a0001c0001t0001g0005a0003c0004t0001g0004 | 2 | HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.493-1593G>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67865684 | ||||||
| chr9:67866164
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.493-1113A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67866164 | ||||||
| chr9:67866984
|
G | A | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.493-293G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67866984 | ||||||
| chr9:67866997
|
A | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.493-280A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67866997 | ||||||
| chr9:67867152
|
A | C | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.493-125A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 3/14 | chr9 | 67867152 | ||||||
| chr9:67871125
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.738-32A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 5/14 | chr9 | 67871125 | ||||||
| chr9:67871243
|
C | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+31C>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67871243 | ||||||
| chr9:67871443
|
T | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+231T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67871443 | ||||||
| chr9:67871610
|
C | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+398C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67871610 | ||||||
| chr9:67871757
|
G | A | 1 | a0001c0001t0002g0006 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.793+545G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67871757 | ||||||
| chr9:67871846
|
T | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+634T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67871846 | ||||||
| chr9:67872163
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+951G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872163 | ||||||
| chr9:67872356
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+1144A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872356 | ||||||
| chr9:67872357
|
C | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+1145C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872357 | ||||||
| chr9:67872453
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+1241G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872453 | ||||||
| chr9:67872600
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+1388G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872600 | ||||||
| chr9:67872648
|
T | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+1436T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67872648 | ||||||
| chr9:67873105
|
C | T | 1 | a0004c0003t0001g0003 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.793+1893C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67873105 | ||||||
| chr9:67873312
|
T | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.793+2100T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67873312 | ||||||
| chr9:67873843
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.793+2631A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67873843 | ||||||
| chr9:67875090
|
T | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-2670T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67875090 | ||||||
| chr9:67875125
|
A | G | 1 | a0003c0004t0001g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.794-2635A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67875125 | ||||||
| chr9:67875670
|
C | T | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.794-2090C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67875670 | ||||||
| chr9:67876060
|
T | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-1700T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67876060 | ||||||
| chr9:67876067
|
T | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-1693T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67876067 | ||||||
| chr9:67876511
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-1249G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67876511 | ||||||
| chr9:67876933
|
C | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-827C>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67876933 | ||||||
| chr9:67877005
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-755A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877005 | ||||||
| chr9:67877187
|
C | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-573C>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877187 | ||||||
| chr9:67877228
|
G | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-532G>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877228 | ||||||
| chr9:67877279
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-481A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877279 | ||||||
| chr9:67877607
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-153G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877607 | ||||||
| chr9:67877658
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.794-102G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/14 | chr9 | 67877658 | ||||||
| chr9:67877942
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+152G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67877942 | ||||||
| chr9:67878079
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+289A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67878079 | ||||||
| chr9:67878100
|
G | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+310G>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67878100 | ||||||
| chr9:67878335
|
T | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+545T>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67878335 | ||||||
| chr9:67878828
|
A | C | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+1038A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67878828 | ||||||
| chr9:67878840
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.824+1050A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67878840 | ||||||
| chr9:67879455
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.825-1021A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67879455 | ||||||
| chr9:67879564
|
A | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.825-912A>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67879564 | ||||||
| chr9:67879790
|
G | A | 1 | a0003c0004t0001g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.825-686G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67879790 | ||||||
| chr9:67879837
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.825-639G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67879837 | ||||||
| chr9:67880088
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.825-388A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67880088 | ||||||
| chr9:67880431
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.825-45A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 7/14 | chr9 | 67880431 | ||||||
| chr9:67881061
|
C | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.894+516C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67881061 | ||||||
| chr9:67881332
|
T | C | 4 | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0008others(1): Show | 4 | HG00597.hp1 HG03098.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.894+787T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67881332 | ||||||
| chr9:67881655
|
C | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.894+1110C>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67881655 | ||||||
| chr9:67881985
|
C | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.894+1440C>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67881985 | ||||||
| chr9:67882363
|
G | T | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.894+1818G>T | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882363 | ||||||
| chr9:67882400
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.894+1855A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882400 | ||||||
| chr9:67882444
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.894+1899A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882444 | ||||||
| chr9:67882620
|
T | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-1866T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882620 | ||||||
| chr9:67882686
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-1800A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882686 | ||||||
| chr9:67882863
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-1623G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67882863 | ||||||
| chr9:67883927
|
C | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-559C>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67883927 | ||||||
| chr9:67884128
|
G | A | 1 | a0003c0004t0001g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.895-358G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67884128 | ||||||
| chr9:67884146
|
C | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-340C>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67884146 | ||||||
| chr9:67884158
|
A | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.895-328A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 8/14 | chr9 | 67884158 | ||||||
| chr9:67884673
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.979+103A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 9/14 | chr9 | 67884673 | ||||||
| chr9:67884869
|
G | A | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.979+299G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 9/14 | chr9 | 67884869 | ||||||
| chr9:67885214
|
C | G | 1 | a0002c0005t0001g0007 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.979+644C>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 9/14 | chr9 | 67885214 | ||||||
| chr9:67888011
|
A | G | 8 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0006others(5): Show | 8 | HG00597.hp1 HG00597.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1081+543A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67888011 | ||||||
| chr9:67888271
|
A | G | 1 | a0003c0004t0001g0004 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1081+803A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67888271 | ||||||
| chr9:67888399
|
T | G | 3 | a0001c0001t0002g0001a0001c0001t0003g0001a0004c0003t0001g0003 | 3 | HG02922.hp2 HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+931T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67888399 | ||||||
| chr9:67888909
|
T | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+1441T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67888909 | ||||||
| chr9:67889235
|
T | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+1767T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67889235 | ||||||
| chr9:67889270
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+1802A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67889270 | ||||||
| chr9:67889390
|
G | A | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+1922G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67889390 | ||||||
| chr9:67889426
|
G | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+1958G>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67889426 | ||||||
| chr9:67889604
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+2136A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67889604 | ||||||
| chr9:67890358
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+2890A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67890358 | ||||||
| chr9:67890365
|
G | A | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1081+2897G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67890365 | ||||||
| chr9:67890545
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-2891A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67890545 | ||||||
| chr9:67890941
|
T | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-2495T>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67890941 | ||||||
| chr9:67891065
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-2371A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67891065 | ||||||
| chr9:67891108
|
A | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-2328A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67891108 | ||||||
| chr9:67891295
|
AAAC | A | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-2118_1082-211 others(7): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | 67891295 | |||||
| chr9:67891811
|
A | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-1625A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67891811 | ||||||
| chr9:67892148
|
TG | T | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-1286delG | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | 67892148 | |||||
| chr9:67892224
|
G | A | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-1212G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67892224 | ||||||
| chr9:67892243
|
T | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-1193T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67892243 | ||||||
| chr9:67892779
|
A | C | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-657A>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67892779 | ||||||
| chr9:67892856
|
G | A | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-580G>A | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67892856 | ||||||
| chr9:67893136
|
A | G | 2 | a0001c0001t0002g0001a0001c0001t0003g0001 | 2 | HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1082-300A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 11/14 | chr9 | 67893136 | ||||||
| chr9:67897553
|
T | C | 2 | a0001c0001t0001g0005a0001c0001t0002g0008 | 2 | HG02922.hp1 HG03098.hp1 |
splice_region_variant&intron_variant | LOW | c.1153-6T>C | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 12/14 | chr9 | 67897553 | ||||||
| chr9:67898574
|
A | G | 3 | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0003g0001 | 3 | HG00597.hp1 HG03098.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1317-573A>G | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 13/14 | chr9 | 67898574 |