Item | Value |
---|---|
geneid | 7307 |
ensemblid | ENSG00000160201.12 |
hgncid | 12453 |
symbol | U2AF1 |
name | U2 small nuclear RNA auxiliary factor 1 |
refseq_nuc | NM_006758.3 |
refseq_prot | NP_006749.1 |
ensembl_nuc | ENST00000291552.9 |
ensembl_prot | ENSP00000291552.4 |
mane_status | MANE Select |
chr | chr21 |
start | 43092956 |
end | 43107570 |
strand | - |
ver | v1.2 |
region | chr21:43092956-43107570 |
region5000 | chr21:43087956-43112570 |
regionname0 | U2AF1_chr21_43092956_43107570 |
regionname5000 | U2AF1_chr21_43087956_43112570 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 720 | 146 | 14 | 12 | 90 | 6 | 24 | U2AF1_chr21_43087956_43112570 | U2AF1 | ATGGC others(715): Show |
chr21 | 43087956 | 43112570 | ||
a0001c0002 | 0/0 | 720 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | ATGGC others(715): Show |
chr21 | 43087956 | 43112570 | ||
a0001c0003 | 0/0 | 720 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | ATGGC others(715): Show |
chr21 | 43087956 | 43112570 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 945 | 143 | 14 | 11 | 89 | 6 | 23 | U2AF1_chr21_43087956_43112570 | U2AF1 | GACGT others(940): Show |
chr21 | 43087956 | 43112570 |
a0001c0001t0002 | 0/0 | 945 | 3 | 0 | 1 | 1 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | GACGT others(940): Show |
chr21 | 43087956 | 43112570 |
a0001c0002t0001 | 0/0 | 945 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | GACGT others(940): Show |
chr21 | 43087956 | 43112570 |
a0001c0003t0001 | 0/0 | 945 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | GACGT others(940): Show |
chr21 | 43087956 | 43112570 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 57 | 4 | 5 | 34 | 4 | 10 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0002 | 0/0 | 14 | 0 | 3 | 6 | 1 | 4 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0003 | 0/0 | 8 | 0 | 0 | 8 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0004 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0007 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0009 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0001t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0002t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0003t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
a0001c0003t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00423 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00423 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00673 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01496 | hp2 | a0001 | c0001 | t0002 | g0060 | AMR | CLM | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | CDX | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ACB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02622 | hp1 | a0001 | c0002 | t0001 | g0011 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0054 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0043 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02818 | hp2 | a0001 | c0003 | t0001 | g0056 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02896 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03491 | hp2 | a0001 | c0001 | t0002 | g0059 | SAS | PJL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0021 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0037 | SAS | BEB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0049 | SAS | BEB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | BEB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0044 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04199 | hp2 | a0001 | c0001 | t0001 | g0034 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | CHB | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18949 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18972 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18981 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18989 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18995 | hp1 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19007 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19062 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19065 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19078 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19078 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19091 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19240 | hp1 | a0001 | c0003 | t0001 | g0013 | AFR | YRI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ASW | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0042 | AFR | ASW | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | TSI | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0055 | AFR | MSL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
HG03471 | hp2 | a0001 | c0002 | t0001 | g0011 | AFR | MSL | U2AF1_chr21_43087956_43112570 | U2AF1 | chr21 | 43087956 | 43112570 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43094491 | C | T | 1 | a0001c0002 | 2 | HG02622.hp1 HG03471.hp2 |
synonymous_variant | LOW | c.555G>A | p.Leu185Leu | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/8 | 631/945 | 555/723 | 185/240 | chr21 | 43094491 | |||
chr21:43094699 | G | A | 1 | a0001c0003 | 2 | HG02818.hp2 NA19240.hp1 |
synonymous_variant | LOW | c.438C>T | p.Pro146Pro | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 6/8 | 514/945 | 438/723 | 146/240 | chr21 | 43094699 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43107559 | T | G | 1 | a0001c0001t0002 | 3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
5_prime_UTR_variant | MODIFIER | c.-65A>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/8 | 65 | chr21 | 43107559 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43093369 | ACTG | A | 4 | a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 others(1): Show |
4 | HG01496.hp2 HG03491.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.576-123_576-121del others(3): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093369 | |||||||
chr21:43093390 | C | T | 4 | a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 others(1): Show |
4 | HG01496.hp2 HG03491.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.576-141G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093390 | |||||||
chr21:43093464 | G | C | 1 | a0001c0001t0001g0031 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.576-215C>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093464 | |||||||
chr21:43093490 | T | C | 1 | a0001c0001t0001g0055 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.576-241A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093490 | |||||||
chr21:43093622 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.576-373C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093622 | |||||||
chr21:43093631 | G | A | 2 | a0001c0001t0001g0018 a0001c0001t0001g0032 |
2 | NA19003.hp1 NA19078.hp2 |
intron_variant | MODIFIER | c.576-382C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093631 | |||||||
chr21:43093677 | G | A | 1 | a0001c0001t0001g0029 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.576-428C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093677 | |||||||
chr21:43093775 | T | C | 1 | a0001c0001t0001g0033 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.576-526A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093775 | |||||||
chr21:43093893 | C | T | 3 | a0001c0001t0001g0054 a0001c0003t0001g0013 a0001c0003t0001g0056 |
3 | HG02622.hp2 HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.575+578G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43093893 | |||||||
chr21:43094008 | T | C | 1 | a0001c0001t0001g0034 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.575+463A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43094008 | |||||||
chr21:43094205 | C | T | 2 | a0001c0003t0001g0013 a0001c0003t0001g0056 |
2 | HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.575+266G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43094205 | |||||||
chr21:43094339 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.575+132C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 7/7 | chr21 | 43094339 | |||||||
chr21:43094859 | A | ATG | 9 | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 others(6): Show |
10 | HG01496.hp2 HG02622.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.349-72_349-71insCA | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43094859 | |||||||
chr21:43094902 | T | C | 3 | a0001c0001t0001g0054 a0001c0003t0001g0013 a0001c0003t0001g0056 |
3 | HG02622.hp2 HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.349-114A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43094902 | |||||||
chr21:43095198 | C | T | 1 | a0001c0001t0001g0046 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.348+240G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095198 | |||||||
chr21:43095236 | T | C | 9 | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 others(6): Show |
10 | HG01496.hp2 HG02622.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.348+202A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095236 | |||||||
chr21:43095253 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.348+185C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095253 | |||||||
chr21:43095329 | G | A | 1 | a0001c0001t0001g0036 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.348+109C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095329 | |||||||
chr21:43095334 | T | C | 1 | a0001c0002t0001g0011 | 2 | HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.348+104A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095334 | |||||||
chr21:43095394 | T | C | 4 | a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 others(1): Show |
4 | HG01496.hp2 HG03491.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.348+44A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095394 | |||||||
chr21:43095407 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.348+31C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 5/7 | chr21 | 43095407 | |||||||
chr21:43095575 | T | C | 4 | a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 others(1): Show |
4 | HG01496.hp2 HG03491.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.250-39A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 4/7 | chr21 | 43095575 | |||||||
chr21:43095996 | A | T | 8 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0015 others(5): Show |
16 | HG00609.hp2 HG00673.hp2 HG02129.hp2 others(13): Show |
intron_variant | MODIFIER | c.200-253T>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43095996 | |||||||
chr21:43096178 | G | A | 1 | a0001c0001t0001g0037 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.200-435C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096178 | |||||||
chr21:43096226 | AT | A | 4 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0038 others(1): Show |
5 | HG02896.hp1 HG03239.hp1 NA18747.hp2 others(2): Show |
intron_variant | MODIFIER | c.200-484delA | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096226 | |||||||
chr21:43096293 | C | T | 1 | a0001c0001t0001g0005 | 3 | HG00423.hp1 NA19007.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.200-550G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096293 | |||||||
chr21:43096542 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.200-799C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096542 | |||||||
chr21:43096777 | A | G | 1 | a0001c0001t0001g0030 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.200-1034T>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096777 | |||||||
chr21:43096798 | T | C | 1 | a0001c0001t0001g0040 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.200-1055A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096798 | |||||||
chr21:43096962 | G | A | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-1219C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43096962 | |||||||
chr21:43097618 | T | A | 1 | a0001c0001t0001g0045 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.200-1875A>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097618 | |||||||
chr21:43097621 | C | CT | 8 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0024 others(5): Show |
14 | HG01496.hp2 HG02074.hp1 HG02074.hp2 others(11): Show |
intron_variant | MODIFIER | c.200-1879dupA | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097621 | |||||||
chr21:43097645 | G | A | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-1902C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097645 | |||||||
chr21:43097648 | G | A | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-1905C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097648 | |||||||
chr21:43097715 | C | T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0046 |
2 | NA19070.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.200-1972G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097715 | |||||||
chr21:43097804 | C | T | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-2061G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097804 | |||||||
chr21:43097918 | G | A | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-2175C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097918 | |||||||
chr21:43097934 | C | CA | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.200-2192dupT | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43097934 | |||||||
chr21:43098181 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.199+2272C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43098181 | |||||||
chr21:43098398 | C | T | 1 | a0001c0001t0001g0016 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.199+2055G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43098398 | |||||||
chr21:43098581 | C | G | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.199+1872G>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43098581 | |||||||
chr21:43098809 | T | G | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.199+1644A>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43098809 | |||||||
chr21:43099096 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.199+1357C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099096 | |||||||
chr21:43099285 | A | T | 1 | a0001c0001t0001g0028 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.199+1168T>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099285 | |||||||
chr21:43099363 | A | G | 1 | a0001c0001t0001g0027 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.199+1090T>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099363 | |||||||
chr21:43099426 | G | C | 1 | a0001c0001t0001g0021 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.199+1027C>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099426 | |||||||
chr21:43099545 | G | A | 9 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show |
27 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.199+908C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099545 | |||||||
chr21:43099558 | T | G | 1 | a0001c0002t0001g0011 | 2 | HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.199+895A>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099558 | |||||||
chr21:43099850 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.199+603G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099850 | |||||||
chr21:43099924 | G | GGTTT | 2 | a0001c0003t0001g0013 a0001c0003t0001g0056 |
2 | HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.199+528_199+529ins others(4): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099924 | |||||||
chr21:43099924 | G | GGTTTGTT others(6): Show |
1 | a0001c0002t0001g0011 | 2 | HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.199+528_199+529ins others(13): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099924 | |||||||
chr21:43099924 | G | GGTTTT | 3 | a0001c0001t0001g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 |
3 | HG02622.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.199+528_199+529ins others(5): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099924 | |||||||
chr21:43099924 | G | GT | 5 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048 others(2): Show |
5 | HG02074.hp2 HG02155.hp2 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.199+528dupA | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099924 | |||||||
chr21:43099924 | GT | G | 9 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show |
27 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.199+528delA | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099924 | |||||||
chr21:43099942 | G | T | 1 | a0001c0001t0001g0055 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.199+511C>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43099942 | |||||||
chr21:43100027 | C | T | 10 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
28 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.199+426G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43100027 | |||||||
chr21:43100394 | G | T | 1 | a0001c0001t0001g0024 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.199+59C>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 3/7 | chr21 | 43100394 | |||||||
chr21:43100697 | G | A | 1 | a0001c0001t0001g0041 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.133-178C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43100697 | |||||||
chr21:43100852 | G | A | 1 | a0001c0001t0001g0042 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.133-333C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43100852 | |||||||
chr21:43101672 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.133-1153C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43101672 | |||||||
chr21:43101862 | C | T | 1 | a0001c0002t0001g0011 | 2 | HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.133-1343G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43101862 | |||||||
chr21:43101919 | C | T | 4 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0003t0001g0013 others(1): Show |
4 | HG02622.hp2 HG02818.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.133-1400G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43101919 | |||||||
chr21:43102303 | G | C | 1 | a0001c0001t0001g0044 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.133-1784C>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43102303 | |||||||
chr21:43102434 | T | C | 1 | a0001c0001t0001g0045 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.132+1881A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43102434 | |||||||
chr21:43102702 | T | C | 1 | a0001c0001t0001g0046 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.132+1613A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43102702 | |||||||
chr21:43102899 | A | G | 1 | a0001c0001t0001g0007 | 2 | HG01123.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.132+1416T>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43102899 | |||||||
chr21:43102951 | G | T | 1 | a0001c0001t0001g0023 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.132+1364C>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43102951 | |||||||
chr21:43103062 | A | C | 1 | a0001c0001t0001g0022 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.132+1253T>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43103062 | |||||||
chr21:43103499 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.132+816C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43103499 | |||||||
chr21:43103802 | G | A | 1 | a0001c0001t0001g0053 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.132+513C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43103802 | |||||||
chr21:43103900 | CTCCA | C | 10 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
28 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.132+411_132+414del others(4): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43103900 | |||||||
chr21:43103960 | G | A | 7 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(4): Show |
24 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.132+355C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43103960 | |||||||
chr21:43104180 | A | C | 10 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
28 | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.132+135T>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43104180 | |||||||
chr21:43104213 | C | T | 1 | a0001c0001t0001g0019 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.132+102G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43104213 | |||||||
chr21:43104214 | AACT | A | 1 | a0001c0002t0001g0011 | 2 | HG02622.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.132+98_132+100delA others(2): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 2/7 | chr21 | 43104214 | |||||||
chr21:43104903 | T | C | 3 | a0001c0001t0001g0054 a0001c0003t0001g0013 a0001c0003t0001g0056 |
3 | HG02622.hp2 HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.45-501A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43104903 | |||||||
chr21:43105109 | G | A | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.45-707C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105109 | |||||||
chr21:43105152 | T | C | 1 | a0001c0001t0001g0009 | 2 | HG01243.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.45-750A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105152 | |||||||
chr21:43105391 | A | G | 8 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0058 others(5): Show |
9 | HG01496.hp2 HG02622.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.45-989T>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105391 | |||||||
chr21:43105693 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.45-1291A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105693 | |||||||
chr21:43105752 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.45-1350G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105752 | |||||||
chr21:43105819 | C | G | 1 | a0001c0001t0001g0018 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.45-1417G>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105819 | |||||||
chr21:43105930 | T | C | 2 | a0001c0001t0001g0048 a0001c0001t0001g0049 |
2 | HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.44+1521A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43105930 | |||||||
chr21:43106199 | A | G | 1 | a0001c0001t0001g0017 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.44+1252T>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43106199 | |||||||
chr21:43106303 | G | A | 3 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0050 |
4 | HG02257.hp1 HG02630.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.44+1148C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43106303 | |||||||
chr21:43106643 | G | A | 1 | a0001c0001t0001g0051 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.44+808C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43106643 | |||||||
chr21:43107095 | TGCTCCAG others(22): Show |
T | 1 | a0001c0001t0001g0016 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.44+327_44+355delCT others(27): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107095 | |||||||
chr21:43107139 | T | C | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.44+312A>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107139 | |||||||
chr21:43107146 | C | G | 1 | a0001c0001t0001g0015 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.44+305G>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107146 | |||||||
chr21:43107179 | C | T | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.44+272G>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107179 | |||||||
chr21:43107230 | CCATT | C | 3 | a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0053 |
5 | HG00438.hp1 HG00597.hp1 HG02056.hp1 others(2): Show |
intron_variant | MODIFIER | c.44+217_44+220delAA others(2): Show |
U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107230 | |||||||
chr21:43107241 | G | C | 8 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0058 others(5): Show |
9 | HG01496.hp2 HG02622.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.44+210C>G | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107241 | |||||||
chr21:43107248 | C | G | 1 | a0001c0001t0001g0014 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.44+203G>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107248 | |||||||
chr21:43107251 | G | T | 3 | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 |
3 | HG01496.hp2 HG03491.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.44+200C>A | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107251 | |||||||
chr21:43107299 | G | A | 2 | a0001c0001t0001g0012 a0001c0001t0001g0057 |
3 | NA18942.hp2 NA18981.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.44+152C>T | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107299 | |||||||
chr21:43107350 | C | G | 1 | a0001c0003t0001g0013 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.44+101G>C | U2AF1 | ENSG00000160201.12 | transcript | ENST00000291552.9 | protein_coding | 1/7 | chr21 | 43107350 |