Item | Value |
---|---|
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 | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 823 | 4 | 3 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | MKLFG others(818): Show |
chr9 | 67853931 | 67907394 |
a0003 | 0/0 | 291 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | MKLFG others(286): Show |
chr9 | 67853931 | 67907394 |
a0004 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | MKLFG others(818): Show |
chr9 | 67853931 | 67907394 |
a0005 | 0/0 | 17 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | MKLFG others(12): Show |
chr9 | 67853931 | 67907394 |
a0006 | 0/0 | 823 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | MKLFG others(818): Show |
chr9 | 67853931 | 67907394 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 2469 | 4 | 3 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | ATGAA others(2464): Show |
chr9 | 67853931 | 67907394 | ||
a0003c0005 | 0/0 | 2465 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | ATGAA others(2460): Show |
chr9 | 67853931 | 67907394 | ||
a0004c0004 | 0/0 | 2469 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | ATGAA others(2464): Show |
chr9 | 67853931 | 67907394 | ||
a0005c0002 | 0/0 | 2468 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | ATGAA others(2463): Show |
chr9 | 67853931 | 67907394 | ||
a0006c0006 | 0/0 | 2469 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | ATGAA others(2464): Show |
chr9 | 67853931 | 67907394 |
acthapid | grch38/chm13v2 | 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 | CTCCT others(3837): Show |
chr9 | 67853931 | 67907394 |
a0001c0001t0002 | 0/0 | 3842 | 3 | 2 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | CTCCT others(3837): Show |
chr9 | 67853931 | 67907394 |
a0003c0005t0001 | 0/0 | 3838 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | CTCCT others(3833): Show |
chr9 | 67853931 | 67907394 |
a0004c0004t0001 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | CTCCT others(3837): Show |
chr9 | 67853931 | 67907394 |
a0005c0002t0003 | 0/0 | 3841 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | CTCCT others(3836): Show |
chr9 | 67853931 | 67907394 |
a0006c0006t0001 | 0/0 | 3842 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | CTCCT others(3837): Show |
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 |
a0003c0005t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
a0004c0004t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
a0005c0002t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
a0006c0006t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
sampleid | 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 | a0003 | 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 | c0004 | 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 | a0005 | c0002 | t0003 | g0001 | AFR | YRI | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
NA19240 | hp2 | a0006 | c0006 | t0001 | g0004 | AFR | YRI | ANKRD20A1_chr9_67853931_67907394 | ANKRD20A1 | chr9 | 67853931 | 67907394 |
view | chr:pos | ref | alt | # # of ahapid:amio-acid(protein) level
|
ahapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr9:67859466 | GC | G | 1 | a0005 | 1 | NA19240.hp1 | frameshift_variant | HIGH | c.43delC | p.Gln15fs | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 539/3895 | 43/2472 | 15/823 | INFO_REALIGN_3_PRIME | chr9 | 67859466 | ||
chr9:67859514 | CG | C | 1 | a0005 | 1 | NA19240.hp1 | frameshift_variant | HIGH | c.91delG | p.Asp31fs | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 587/3895 | 91/2472 | 31/823 | INFO_REALIGN_3_PRIME | chr9 | 67859514 | ||
chr9:67859625 | C | CA | 1 | a0005 | 1 | NA19240.hp1 | frameshift_variant&splice_region_variant | HIGH | c.200dupA | p.His67fs | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 1/15 | 697/3895 | 201/2472 | 67/823 | INFO_REALIGN_3_PRIME | chr9 | 67859625 | ||
chr9:67862963 | A | G | 5 | a0001a0003a0004others(2): 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 | |||
chr9:67871191 | ATACT | A | 1 | a0003 | 1 | HG00597.hp2 | frameshift_variant | HIGH | c.775_778delCTTA | p.Leu259fs | ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 6/15 | 1271/3895 | 775/2472 | 259/823 | INFO_REALIGN_3_PRIME | chr9 | 67871191 | ||
chr9:67893489 | G | T | 1 | a0003 | 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 | a0006 | 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 |
view | chr:pos | ref | alt | # # of chapid
|
chapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr9:67859561 | C | T | 5 | a0001c0001a0003c0005a0004c0004others(2): 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 | 5 | a0001c0001a0003c0005a0004c0004others(2): 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 |
view | chr:pos | ref | alt | # # of thapid:transcript level
|
thapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr9:67858934 | T | C | 6 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0005c0002t0003 | 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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 | a0001c0001t0002a0005c0002t0003 | 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 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(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 |
view | chr:pos | ref | alt | # # of ghapid:genebody level
|
ghapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna_pos_length | cds_pos_length | 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 | a0001c0001t0001g0005a0006c0006t0001g0004 | 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 | a0003c0005t0001g0007 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0004c0004t0001g0003 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0006c0006t0001g0004 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0006c0006t0001g0004 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0006c0006t0001g0004 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0003c0005t0001g0007 | 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 | a0006c0006t0001g0004 | 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 | a0001c0001t0002g0001a0004c0004t0001g0003a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0005c0002t0003g0001 | 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 | a0001c0001t0002g0001a0001c0001t0002g0006a0005c0002t0003g0001 | 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 |