Item | Value |
---|---|
geneid | 728957 |
ensemblid | ENSG00000215343.8 |
hgncid | 33202 |
symbol | ZNF705D |
name | zinc finger protein 705D |
refseq_nuc | NM_001039615.3 |
refseq_prot | NP_001034704.2 |
ensembl_nuc | ENST00000400085.8 |
ensembl_prot | ENSP00000382957.3 |
mane_status | MANE Select |
chr | chr8 |
start | 12089338 |
end | 12115516 |
strand | + |
ver | v1.2 |
region | chr8:12089338-12115516 |
region5000 | chr8:12084338-12120516 |
regionname0 | ZNF705D_chr8_12089338_12115516 |
regionname5000 | ZNF705D_chr8_12084338_12120516 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 300 | 4 | 3 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | MHSLE others(295): Show |
chr8 | 12084338 | 12120516 |
a0002 | 0/0 | 300 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | MHSLE others(295): Show |
chr8 | 12084338 | 12120516 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 900 | 3 | 3 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | ATGCA others(895): Show |
chr8 | 12084338 | 12120516 | ||
a0001c0002 | 0/1 | 900 | 1 | 0 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | ATGCA others(895): Show |
chr8 | 12084338 | 12120516 | ||
a0002c0003 | 0/0 | 900 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | ATGCA others(895): Show |
chr8 | 12084338 | 12120516 |
acthapid | grch38/chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 3682 | 2 | 2 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | CTGTG others(3677): Show |
chr8 | 12084338 | 12120516 |
a0001c0001t0002 | 0/0 | 3683 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | CTGTG others(3678): Show |
chr8 | 12084338 | 12120516 |
a0001c0002t0004 | 0/1 | 3683 | 1 | 0 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | CTGTG others(3678): Show |
chr8 | 12084338 | 12120516 |
a0002c0003t0003 | 0/0 | 3683 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | CTGTG others(3678): Show |
chr8 | 12084338 | 12120516 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
a0001c0001t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
a0001c0002t0004g0004 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
a0002c0003t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
sampleid | haplotypeid | ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
NA18522 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | YRI | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
NA20129 | hp1 | a0002 | c0003 | t0003 | g0001 | AFR | ASW | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
NA20129 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | ASW | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
homoSapiens | chm13v2 | a0001 | c0002 | t0004 | g0004 | REF | REF | ZNF705D_chr8_12084338_12120516 | ZNF705D | chr8 | 12084338 | 12120516 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12112686 | G | A | 1 | a0002 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.431G>A | p.Cys144Tyr | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 853/3683 | 431/903 | 144/300 | chr8 | 12112686 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12111493 | C | T | 1 | a0002c0003 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.297C>T | p.Asp99Asp | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 6/7 | 719/3683 | 297/903 | 99/300 | chr8 | 12111493 | |||
chr8:12112951 | A | G | 1 | a0002c0003 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.696A>G | p.Gln232Gln | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 1118/3683 | 696/903 | 232/300 | chr8 | 12112951 | |||
chr8:12113104 | A | T | 1 | a0002c0003 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.849A>T | p.Pro283Pro | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 1271/3683 | 849/903 | 283/300 | chr8 | 12113104 | |||
chr8:12113143 | C | T | 1 | a0002c0003 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.888C>T | p.Ser296Ser | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 1310/3683 | 888/903 | 296/300 | chr8 | 12113143 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12089458 | GC | G | 1 | a0001c0001t0001 | 2 | NA18522.hp1 NA18522.hp2 |
5_prime_UTR_variant | MODIFIER | c.-300delC | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/7 | 18734 | INFO_REALIGN_3_PRIME | chr8 | 12089458 | |||||
chr8:12089460 | C | G | 1 | a0001c0001t0001 | 2 | NA18522.hp1 NA18522.hp2 |
5_prime_UTR_variant | MODIFIER | c.-300C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/7 | 18734 | chr8 | 12089460 | ||||||
chr8:12104426 | C | T | 1 | a0002c0003t0003 | 1 | NA20129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-79C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/7 | 3768 | chr8 | 12104426 | ||||||
chr8:12113234 | C | A | 1 | a0002c0003t0003 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*76C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 76 | chr8 | 12113234 | ||||||
chr8:12114049 | G | A | 1 | a0002c0003t0003 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*891G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 891 | chr8 | 12114049 | ||||||
chr8:12114191 | C | G | 2 | a0001c0001t0001a0001c0001t0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1033C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 1033 | chr8 | 12114191 | ||||||
chr8:12114294 | C | G | 1 | a0002c0003t0003 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1136C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 1136 | chr8 | 12114294 | ||||||
chr8:12115478 | G | C | 1 | a0002c0003t0003 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2320G>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 7/7 | 2320 | chr8 | 12115478 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12089822 | C | G | 1 | a0001c0001t0001g0005 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-117+179C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12089822 | |||||||
chr8:12090145 | G | A | 1 | a0001c0001t0001g0005 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-117+502G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12090145 | |||||||
chr8:12090164 | C | T | 1 | a0001c0001t0001g0003 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.-117+521C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12090164 | |||||||
chr8:12090650 | C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+1007C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12090650 | |||||||
chr8:12090702 | C | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+1059C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12090702 | |||||||
chr8:12090853 | A | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+1210A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12090853 | |||||||
chr8:12091112 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+1469A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12091112 | |||||||
chr8:12091193 | G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+1550G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12091193 | |||||||
chr8:12091696 | C | A | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-117+2053C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12091696 | |||||||
chr8:12091770 | C | A | 1 | a0001c0001t0002g0002 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-117+2127C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12091770 | |||||||
chr8:12092050 | G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+2407G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12092050 | |||||||
chr8:12092247 | G | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-117+2604G>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12092247 | |||||||
chr8:12092280 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+2637A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12092280 | |||||||
chr8:12092366 | G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+2723G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12092366 | |||||||
chr8:12093415 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+3772A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12093415 | |||||||
chr8:12093596 | T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+3953T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12093596 | |||||||
chr8:12093813 | A | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-117+4170A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12093813 | |||||||
chr8:12094167 | T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+4524T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12094167 | |||||||
chr8:12094762 | T | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+5119T>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12094762 | |||||||
chr8:12095073 | G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+5430G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12095073 | |||||||
chr8:12095158 | A | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+5515A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12095158 | |||||||
chr8:12095440 | TTG | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+5815_-117+581 others(6): Show |
ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | 12095440 | ||||||
chr8:12095753 | TAC | T | 2 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | NA18522.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.-117+6151_-117+615 others(6): Show |
ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | 12095753 | ||||||
chr8:12095888 | C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+6245C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12095888 | |||||||
chr8:12096171 | A | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-117+6528A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12096171 | |||||||
chr8:12096172 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-117+6529T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12096172 | |||||||
chr8:12097795 | T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-6594T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12097795 | |||||||
chr8:12098299 | C | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-6090C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12098299 | |||||||
chr8:12098403 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-5986A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12098403 | |||||||
chr8:12099146 | T | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-5243T>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12099146 | |||||||
chr8:12099233 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-5156A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12099233 | |||||||
chr8:12099286 | A | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-5103A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12099286 | |||||||
chr8:12099337 | G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-5052G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12099337 | |||||||
chr8:12099591 | T | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-4798T>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12099591 | |||||||
chr8:12100204 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-4185A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12100204 | |||||||
chr8:12100424 | C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-3965C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12100424 | |||||||
chr8:12100694 | C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-3695C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12100694 | |||||||
chr8:12100933 | C | T | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-3456C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12100933 | |||||||
chr8:12101311 | C | T | 1 | a0001c0001t0001g0005 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-116-3078C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12101311 | |||||||
chr8:12101980 | G | A | 1 | a0001c0001t0002g0002 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-116-2409G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12101980 | |||||||
chr8:12102184 | T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-2205T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12102184 | |||||||
chr8:12102664 | C | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-1725C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12102664 | |||||||
chr8:12102686 | A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0002g0002 | 3 | NA18522.hp1 NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-1703A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12102686 | |||||||
chr8:12102834 | C | T | 1 | a0001c0001t0001g0005 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-116-1555C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12102834 | |||||||
chr8:12102841 | T | C | 2 | a0001c0001t0001g0003a0001c0001t0002g0002 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-116-1548T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12102841 | |||||||
chr8:12103790 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-116-599T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 1/6 | chr8 | 12103790 | |||||||
chr8:12104492 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-72+59T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12104492 | |||||||
chr8:12104972 | A | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-72+539A>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12104972 | |||||||
chr8:12105252 | T | A | 2 | a0001c0001t0001g0003a0001c0001t0002g0002 | 2 | NA18522.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.-72+819T>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12105252 | |||||||
chr8:12105566 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-72+1133T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12105566 | |||||||
chr8:12105735 | CA | C | 3 | a0001c0001t0001g0003a0001c0001t0002g0002a0002c0003t0003g0001 | 3 | NA18522.hp2 NA20129.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-72+1320delA | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | 12105735 | ||||||
chr8:12105755 | A | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-72+1322A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12105755 | |||||||
chr8:12105841 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-72+1408T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12105841 | |||||||
chr8:12107591 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-71-532T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12107591 | |||||||
chr8:12107686 | A | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-71-437A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12107686 | |||||||
chr8:12108022 | A | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-71-101A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 2/6 | chr8 | 12108022 | |||||||
chr8:12108538 | T | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.12+333T>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12108538 | |||||||
chr8:12108801 | C | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.12+596C>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12108801 | |||||||
chr8:12109023 | C | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.12+818C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109023 | |||||||
chr8:12109091 | C | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-809C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109091 | |||||||
chr8:12109139 | C | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-761C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109139 | |||||||
chr8:12109184 | G | A | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-716G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109184 | |||||||
chr8:12109202 | C | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-698C>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109202 | |||||||
chr8:12109332 | G | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-568G>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109332 | |||||||
chr8:12109612 | G | T | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-288G>T | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109612 | |||||||
chr8:12109634 | G | C | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-266G>C | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109634 | |||||||
chr8:12109666 | G | A | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.13-234G>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 3/6 | chr8 | 12109666 | |||||||
chr8:12112167 | A | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.319-407A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 6/6 | chr8 | 12112167 | |||||||
chr8:12112252 | A | G | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.319-322A>G | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 6/6 | chr8 | 12112252 | |||||||
chr8:12112424 | C | A | 1 | a0002c0003t0003g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.319-150C>A | ZNF705D | ENSG00000215343.8 | transcript | ENST00000400085.8 | protein_coding | 6/6 | chr8 | 12112424 |