Item | Value |
---|---|
geneid | 317749 |
ensemblid | ENSG00000187630.18 |
hgncid | 19731 |
symbol | DHRS4L2 |
name | dehydrogenase/reductase 4 like 2 |
refseq_nuc | NM_198083.4 |
refseq_prot | NP_932349.2 |
ensembl_nuc | ENST00000335125.11 |
ensembl_prot | ENSP00000334801.6 |
mane_status | MANE Select |
chr | chr14 |
start | 23988929 |
end | 24006403 |
strand | + |
ver | v1.2 |
region | chr14:23988929-24006403 |
region5000 | chr14:23983929-24011403 |
regionname0 | DHRS4L2_chr14_23988929_24006403 |
regionname5000 | DHRS4L2_chr14_23983929_24011403 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 232 | 28 | 0 | 14 | 2 | 3 | 8 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | MQMAR others(227): Show |
chr14 | 23983929 | 24011403 |
a0002 | 0/0 | 232 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | MHMAR others(227): Show |
chr14 | 23983929 | 24011403 |
a0003 | 0/0 | 232 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | MHMAR others(227): Show |
chr14 | 23983929 | 24011403 |
a0004 | 0/1 | 158 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | MHMAR others(153): Show |
chr14 | 23983929 | 24011403 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 696 | 27 | 0 | 13 | 2 | 3 | 8 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | ATGCA others(691): Show |
chr14 | 23983929 | 24011403 | ||
a0001c0005 | 0/0 | 696 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | ATGCA others(691): Show |
chr14 | 23983929 | 24011403 | ||
a0002c0002 | 0/0 | 696 | 2 | 0 | 1 | 0 | 1 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | ATGCA others(691): Show |
chr14 | 23983929 | 24011403 | ||
a0003c0004 | 0/0 | 696 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | ATGCA others(691): Show |
chr14 | 23983929 | 24011403 | ||
a0004c0003 | 0/1 | 697 | 1 | 0 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | ATGCA others(692): Show |
chr14 | 23983929 | 24011403 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1258 | 24 | 0 | 11 | 2 | 3 | 8 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0001c0001t0002 | 1/0 | 1258 | 2 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0001c0001t0005 | 0/0 | 1258 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0001c0005t0001 | 0/0 | 1258 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0002c0002t0001 | 0/0 | 1258 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0002c0002t0003 | 0/0 | 1258 | 1 | 0 | 0 | 0 | 1 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0003c0004t0001 | 0/0 | 1258 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1253): Show |
chr14 | 23983929 | 24011403 |
a0004c0003t0004 | 0/1 | 1259 | 1 | 0 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | AGACT others(1254): Show |
chr14 | 23983929 | 24011403 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0002 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0002g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0002g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0001t0005g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0001c0005t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0002c0002t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0002c0002t0003g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0003c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
a0004c0003t0004g0003 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0023 | EUR | GBR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG00642 | hp2 | a0003 | c0004 | t0001 | g0006 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01099 | hp2 | a0001 | c0005 | t0001 | g0013 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01167 | hp2 | a0001 | c0001 | t0002 | g0017 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0018 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01168 | hp2 | a0001 | c0001 | t0005 | g0011 | AMR | PUR | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01256 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | CLM | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PEL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | KHV | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | KHV | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0021 | SAS | PJL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0027 | SAS | STU | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG04199 | hp2 | a0001 | c0001 | t0001 | g0022 | SAS | STU | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0026 | SAS | STU | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0014 | EUR | TSI | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
NA20752 | hp2 | a0002 | c0002 | t0003 | g0005 | EUR | TSI | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
homoSapiens | chm13v2 | a0004 | c0003 | t0004 | g0003 | REF | REF | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0001 | REF | REF | DHRS4L2_chr14_23983929_24011403 | DHRS4L2 | chr14 | 23983929 | 24011403 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:23988953 | G | C | 2 | a0002 a0003 |
3 | HG00642.hp2 HG01256.hp2 NA20752.hp2 |
missense_variant | MODERATE | c.6G>C | p.Gln2His | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 1/8 | 25/1258 | 6/699 | 2/232 | chr14 | 23988953 | |||
chr14:23989002 | A | T | 1 | a0003 | 1 | HG00642.hp2 | missense_variant | MODERATE | c.55A>T | p.Met19Leu | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 1/8 | 74/1258 | 55/699 | 19/232 | chr14 | 23989002 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:23995085 | C | T | 1 | a0001c0005 | 1 | HG01099.hp2 | synonymous_variant | LOW | c.360C>T | p.Asn120Asn | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/8 | 379/1258 | 360/699 | 120/232 | chr14 | 23995085 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:24006056 | T | C | 6 | a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(3): Show |
29 | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*193T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 8/8 | 1686 | chr14 | 24006056 | ||||||
chr14:24006109 | C | A | 1 | a0002c0002t0003 | 1 | NA20752.hp2 | 3_prime_UTR_variant | MODIFIER | c.*246C>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 8/8 | 1739 | chr14 | 24006109 | ||||||
chr14:24006182 | T | C | 1 | a0001c0001t0005 | 1 | HG01168.hp2 | 3_prime_UTR_variant | MODIFIER | c.*319T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 8/8 | 1812 | chr14 | 24006182 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr14:23989211 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.128+136C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 1/7 | chr14 | 23989211 | |||||||
chr14:23989475 | G | C | 3 | a0002c0002t0001g0004 a0002c0002t0003g0005 a0003c0004t0001g0006 |
3 | HG00642.hp2 HG01256.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.128+400G>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 1/7 | chr14 | 23989475 | |||||||
chr14:23990555 | C | T | 1 | a0001c0001t0001g0028 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.306+196C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23990555 | |||||||
chr14:23990954 | T | C | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.306+595T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23990954 | |||||||
chr14:23991260 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.306+901G>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991260 | |||||||
chr14:23991262 | C | T | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.306+903C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991262 | |||||||
chr14:23991263 | A | G | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.306+904A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991263 | |||||||
chr14:23991458 | C | G | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.306+1099C>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991458 | |||||||
chr14:23991737 | C | CT | 4 | a0001c0001t0001g0026 a0002c0002t0001g0004 a0002c0002t0003g0005 others(1): Show |
4 | HG00642.hp2 HG01256.hp2 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.306+1394dupT | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | 23991737 | ||||||
chr14:23991879 | G | T | 1 | a0001c0001t0001g0025 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.306+1520G>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991879 | |||||||
chr14:23991924 | C | T | 3 | a0002c0002t0001g0004 a0002c0002t0003g0005 a0003c0004t0001g0006 |
3 | HG00642.hp2 HG01256.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.306+1565C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23991924 | |||||||
chr14:23992026 | T | C | 26 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(23): Show |
27 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(24): Show |
intron_variant | MODIFIER | c.306+1667T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992026 | |||||||
chr14:23992266 | C | T | 1 | a0003c0004t0001g0006 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.306+1907C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992266 | |||||||
chr14:23992459 | C | A | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.306+2100C>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992459 | |||||||
chr14:23992693 | A | T | 1 | a0001c0001t0001g0023 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.306+2334A>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992693 | |||||||
chr14:23992711 | T | G | 4 | a0001c0001t0001g0023 a0002c0002t0001g0004 a0002c0002t0003g0005 others(1): Show |
4 | HG00140.hp2 HG00642.hp2 HG01256.hp2 others(1): Show |
intron_variant | MODIFIER | c.307-2321T>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992711 | |||||||
chr14:23992717 | A | C | 1 | a0001c0001t0001g0023 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.307-2315A>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992717 | |||||||
chr14:23992735 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.307-2297C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23992735 | |||||||
chr14:23993457 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.307-1575C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23993457 | |||||||
chr14:23993724 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.307-1308C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23993724 | |||||||
chr14:23994031 | G | C | 3 | a0002c0002t0001g0004 a0002c0002t0003g0005 a0003c0004t0001g0006 |
3 | HG00642.hp2 HG01256.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.307-1001G>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994031 | |||||||
chr14:23994393 | G | C | 4 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(1): Show |
4 | HG00642.hp1 HG01167.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.307-639G>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994393 | |||||||
chr14:23994778 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.307-254A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994778 | |||||||
chr14:23994786 | T | C | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.307-246T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994786 | |||||||
chr14:23994791 | A | T | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.307-241A>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994791 | |||||||
chr14:23994793 | T | G | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.307-239T>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994793 | |||||||
chr14:23994798 | C | A | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.307-234C>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994798 | |||||||
chr14:23994850 | C | T | 2 | a0001c0001t0001g0019 a0003c0004t0001g0006 |
2 | HG00642.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.307-182C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994850 | |||||||
chr14:23994851 | A | G | 2 | a0001c0001t0001g0019 a0003c0004t0001g0006 |
2 | HG00642.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.307-181A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994851 | |||||||
chr14:23994871 | A | G | 1 | a0003c0004t0001g0006 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.307-161A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994871 | |||||||
chr14:23994872 | T | C | 1 | a0003c0004t0001g0006 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.307-160T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994872 | |||||||
chr14:23994916 | T | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0028 others(3): Show |
6 | HG00642.hp2 HG01256.hp2 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.307-116T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 2/7 | chr14 | 23994916 | |||||||
chr14:23995381 | C | A | 1 | a0003c0004t0001g0006 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.408+248C>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23995381 | |||||||
chr14:23995875 | G | C | 1 | a0003c0004t0001g0006 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.408+742G>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23995875 | |||||||
chr14:23996511 | T | A | 4 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(1): Show |
4 | HG00738.hp1 HG01168.hp2 HG01256.hp1 others(1): Show |
intron_variant | MODIFIER | c.408+1378T>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23996511 | |||||||
chr14:23997347 | G | T | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.408+2214G>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23997347 | |||||||
chr14:23998132 | T | G | 1 | a0001c0001t0001g0012 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.409-2731T>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23998132 | |||||||
chr14:23998467 | A | T | 2 | a0001c0001t0001g0008 a0001c0001t0001g0028 |
2 | HG01978.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.409-2396A>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23998467 | |||||||
chr14:23998646 | T | C | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.409-2217T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23998646 | |||||||
chr14:23999119 | A | G | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.409-1744A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 23999119 | |||||||
chr14:23999344 | T | TA | 5 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | HG00642.hp2 HG01256.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.409-1489dupA | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | 23999344 | ||||||
chr14:23999344 | T | TAA | 5 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 others(2): Show |
5 | HG01981.hp1 HG01981.hp2 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.409-1490_409-1489d others(4): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | 23999344 | ||||||
chr14:23999344 | T | TAAA | 3 | a0001c0001t0001g0008 a0001c0005t0001g0013 a0002c0002t0003g0005 |
3 | HG01099.hp2 HG01978.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.409-1491_409-1489d others(5): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | 23999344 | ||||||
chr14:24000003 | T | G | 1 | a0001c0001t0001g0007 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.409-860T>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 24000003 | |||||||
chr14:24000082 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.409-781G>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 3/7 | chr14 | 24000082 | |||||||
chr14:24001009 | C | T | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.480-24C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 4/7 | chr14 | 24001009 | |||||||
chr14:24001264 | T | C | 1 | a0001c0001t0001g0016 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.532-120T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 5/7 | chr14 | 24001264 | |||||||
chr14:24001265 | T | C | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.532-119T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 5/7 | chr14 | 24001265 | |||||||
chr14:24001928 | C | T | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.665+411C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24001928 | |||||||
chr14:24001929 | T | C | 1 | a0002c0002t0001g0004 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.665+412T>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24001929 | |||||||
chr14:24001948 | TTTCCTCT others(2008): Show |
T | 2 | a0002c0002t0001g0004 a0002c0002t0003g0005 |
2 | HG01256.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.665+443_666-363del | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001948 | ||||||
chr14:24001957 | C | CTTTTTTT | 3 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 |
3 | HG02683.hp2 HG03710.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.665+450_665+456dup others(7): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0010 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.665+447_665+456dup others(10): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(4): Show |
3 | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0005g0011 |
3 | HG01168.hp2 HG01256.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.665+446_665+456dup others(11): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(7): Show |
3 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0003c0004t0001g0006 |
3 | HG00140.hp2 HG00642.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.665+443_665+456dup others(14): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(8): Show |
1 | a0001c0001t0001g0029 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.665+442_665+456dup others(15): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(9): Show |
1 | a0001c0001t0001g0025 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.665+441_665+456dup others(16): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0008 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.665+456_665+457ins others(18): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(12): Show |
2 | a0001c0001t0001g0016 a0001c0001t0001g0028 |
2 | HG01099.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.665+456_665+457ins others(19): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(14): Show |
1 | a0001c0001t0001g0012 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.665+456_665+457ins others(21): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(19): Show |
2 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
2 | HG02080.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.665+456_665+457ins others(26): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(20): Show |
2 | a0001c0001t0001g0018 a0001c0005t0001g0013 |
2 | HG01099.hp2 HG01168.hp1 |
intron_variant | MODIFIER | c.665+456_665+457ins others(27): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(24): Show |
1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.665+456_665+457ins others(31): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(25): Show |
4 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0024 others(1): Show |
4 | HG01167.hp2 HG02683.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.665+456_665+457ins others(32): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(26): Show |
1 | a0001c0001t0001g0002 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.665+456_665+457ins others(33): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24001957 | C | CTTTTTTT others(29): Show |
1 | a0001c0001t0001g0020 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.665+456_665+457ins others(36): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24001957 | ||||||
chr14:24002667 | C | T | 1 | a0001c0001t0001g0027 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.665+1150C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24002667 | |||||||
chr14:24003596 | T | G | 3 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0003c0004t0001g0006 |
3 | HG00642.hp2 HG01167.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.666-741T>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24003596 | |||||||
chr14:24004094 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.666-243C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24004094 | |||||||
chr14:24004176 | A | G | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.666-161A>G | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | chr14 | 24004176 | |||||||
chr14:24004269 | TA | T | 5 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0025 others(2): Show |
5 | HG01167.hp1 HG01167.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.666-49delA | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | 24004269 | ||||||
chr14:24004577 | C | A | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.*22+185C>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 7/7 | chr14 | 24004577 | |||||||
chr14:24004599 | G | A | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.*22+207G>A | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 7/7 | chr14 | 24004599 | |||||||
chr14:24005040 | G | C | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.*22+648G>C | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 7/7 | chr14 | 24005040 | |||||||
chr14:24005379 | C | T | 1 | a0002c0002t0003g0005 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.*23-507C>T | DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 7/7 | chr14 | 24005379 |