geneid | 4853 |
---|---|
ensemblid | ENSG00000134250.21 |
hgncid | 7882 |
symbol | NOTCH2 |
name | notch receptor 2 |
refseq_nuc | NM_024408.4 |
refseq_prot | NP_077719.2 |
ensembl_nuc | ENST00000256646.7 |
ensembl_prot | ENSP00000256646.2 |
mane_status | MANE Select |
chr | chr1 |
start | 119911553 |
end | 120069662 |
strand | - |
ver | v1.2 |
region | chr1:119911553-120069662 |
region5000 | chr1:119906553-120074662 |
regionname0 | NOTCH2_chr1_119911553_120069662 |
regionname5000 | NOTCH2_chr1_119906553_120074662 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 2471 | 155 | 72 | 22 | 28 | 5 | 26 | 22 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0002 | 0/0 | 2471 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0003 | 0/0 | 2471 | 2 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0004 | 0/0 | 2471 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0005 | 0/0 | 2471 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0006 | 0/0 | 2471 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0007 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0008 | 0/0 | 2471 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0009 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0010 | 0/0 | 2471 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0011 | 0/0 | 2471 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 7416 | 55 | 12 | 11 | 15 | 3 | 12 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0002 | 0/0 | 7416 | 42 | 23 | 6 | 6 | 2 | 5 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0003 | 0/0 | 7416 | 15 | 1 | 3 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0004 | 0/0 | 7416 | 14 | 14 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0005 | 0/0 | 7416 | 9 | 9 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0006 | 0/0 | 7416 | 4 | 0 | 2 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0007 | 0/0 | 7416 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0008 | 0/0 | 7416 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0009 | 0/0 | 7416 | 2 | 0 | 0 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0010 | 0/0 | 7416 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0011 | 0/0 | 7416 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0012 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0013 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0014 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0015 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0016 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0017 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0018 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0019 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0020 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0021 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0022 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0023 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0024 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0025 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0026 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
c0027 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 4010 | 61 | 13 | 13 | 15 | 3 | 15 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0002 | 0/0 | 4010 | 43 | 21 | 6 | 6 | 2 | 8 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0003 | 0/0 | 4013 | 21 | 8 | 2 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0004 | 0/0 | 4010 | 16 | 16 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0005 | 0/0 | 4010 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0006 | 0/0 | 4010 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0007 | 0/0 | 4010 | 4 | 0 | 0 | 4 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0008 | 0/0 | 4010 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0009 | 0/0 | 4019 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0010 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0011 | 0/0 | 4010 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0012 | 0/0 | 4007 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0013 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0014 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0015 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0016 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0017 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0018 | 0/0 | 4010 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
t0019 | 0/0 | 4010 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0075 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0077 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 7416 | 55 | 12 | 11 | 15 | 3 | 12 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0002 | 0/0 | 7416 | 42 | 23 | 6 | 6 | 2 | 5 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0003 | 0/0 | 7416 | 15 | 1 | 3 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0004 | 0/0 | 7416 | 14 | 14 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0005 | 0/0 | 7416 | 9 | 9 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0006 | 0/0 | 7416 | 4 | 0 | 2 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0007 | 0/0 | 7416 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0008 | 0/0 | 7416 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0010 | 0/0 | 7416 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0012 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0013 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0016 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0019 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0021 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0022 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0025 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0002c0009 | 0/0 | 7416 | 2 | 0 | 0 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0003c0015 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0003c0020 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0004c0011 | 0/0 | 7416 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0005c0018 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0006c0017 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0007c0014 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0008c0027 | 0/0 | 7416 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0009c0023 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0010c0024 | 0/0 | 7416 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0011c0026 | 0/0 | 7416 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 11425 | 49 | 11 | 11 | 12 | 2 | 11 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0001t0007 | 0/0 | 11425 | 3 | 0 | 0 | 3 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0001t0012 | 0/0 | 11422 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0001t0013 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0001t0019 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0002t0002 | 0/0 | 11425 | 36 | 17 | 6 | 6 | 2 | 5 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0002t0006 | 0/0 | 11425 | 4 | 4 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0002t0014 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0002t0015 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0003t0003 | 0/0 | 11428 | 14 | 1 | 2 | 5 | 0 | 6 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0003t0011 | 0/0 | 11425 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0004t0004 | 0/0 | 11425 | 7 | 7 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0004t0005 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0004t0008 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0004t0018 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0005t0001 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0005t0003 | 0/0 | 11428 | 7 | 7 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0005t0016 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0006t0001 | 0/0 | 11425 | 4 | 0 | 2 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0007t0004 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0007t0017 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0008t0002 | 0/0 | 11425 | 3 | 3 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0010t0004 | 0/0 | 11425 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0012t0001 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0013t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0016t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0019t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0021t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0022t0005 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0001c0025t0010 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0002c0009t0002 | 0/0 | 11425 | 2 | 0 | 0 | 0 | 0 | 2 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0003c0015t0002 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0003c0020t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0004c0011t0009 | 0/0 | 11434 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0005c0018t0001 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0006c0017t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0007c0014t0002 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0008c0027t0001 | 0/0 | 11425 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0009c0023t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0010c0024t0004 | 0/0 | 11425 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
a0011c0026t0007 | 0/0 | 11425 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | copy fasta | chr1 | 119906553 | 120074662 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0075 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0007g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0007g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0007g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0012g0005 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0013g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0001t0019g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0006g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0006g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0006g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0006g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0014g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0002t0015g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0003g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0003t0011g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0005g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0005g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0005g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0008g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0008g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0008g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0004t0018g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0003g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0005t0016g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0006t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0006t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0006t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0006t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0007t0004g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0007t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0007t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0007t0017g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0008t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0008t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0008t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0010t0004g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0010t0004g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0012t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0013t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0016t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0019t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0021t0004g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0022t0005g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0001c0025t0010g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0002c0009t0002g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0002c0009t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0003c0015t0002g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0003c0020t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0004c0011t0009g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0004c0011t0009g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0005c0018t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0006c0017t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0007c0014t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0008c0027t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0009c0023t0004g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0010c0024t0004g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
a0011c0026t0007g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0012 | g0005 | EUR | GBR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0077 | EUR | GBR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00280 | hp1 | a0001 | c0002 | t0002 | g0046 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00280 | hp2 | a0008 | c0027 | t0001 | g0142 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00323 | hp2 | a0001 | c0002 | t0002 | g0049 | EUR | FIN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00408 | hp1 | a0005 | c0018 | t0001 | g0094 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00408 | hp2 | a0001 | c0013 | t0001 | g0108 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00609 | hp2 | a0001 | c0003 | t0003 | g0155 | EAS | CHS | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00735 | hp1 | a0001 | c0002 | t0002 | g0014 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00738 | hp1 | a0001 | c0006 | t0001 | g0054 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG00738 | hp2 | a0001 | c0002 | t0002 | g0045 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01081 | hp1 | a0001 | c0006 | t0001 | g0053 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01081 | hp2 | a0001 | c0002 | t0002 | g0047 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01109 | hp1 | a0001 | c0002 | t0002 | g0137 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01109 | hp2 | a0001 | c0001 | t0001 | g0073 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01243 | hp1 | a0001 | c0002 | t0002 | g0048 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | PUR | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01361 | hp1 | a0001 | c0002 | t0002 | g0041 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | CLM | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01884 | hp1 | a0001 | c0005 | t0001 | g0140 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01884 | hp2 | a0001 | c0002 | t0002 | g0023 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01891 | hp1 | a0009 | c0023 | t0004 | g0081 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01891 | hp2 | a0001 | c0004 | t0004 | g0127 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG01978 | hp2 | a0001 | c0003 | t0003 | g0149 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02055 | hp1 | a0001 | c0005 | t0003 | g0156 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02055 | hp2 | a0001 | c0002 | t0002 | g0030 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02071 | hp1 | a0011 | c0026 | t0007 | g0163 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02071 | hp2 | a0001 | c0003 | t0003 | g0150 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | KHV | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02145 | hp1 | a0001 | c0004 | t0004 | g0126 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02145 | hp2 | a0001 | c0005 | t0003 | g0143 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02148 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0063 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02257 | hp2 | a0001 | c0004 | t0005 | g0115 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02258 | hp1 | a0001 | c0004 | t0005 | g0117 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02258 | hp2 | a0001 | c0025 | t0010 | g0004 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02273 | hp1 | a0001 | c0003 | t0003 | g0148 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0065 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02280 | hp1 | a0001 | c0007 | t0004 | g0130 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02280 | hp2 | a0001 | c0008 | t0002 | g0019 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0062 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02300 | hp2 | a0001 | c0003 | t0011 | g0006 | AMR | PEL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02451 | hp2 | a0001 | c0002 | t0002 | g0039 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02572 | hp1 | a0001 | c0007 | t0004 | g0131 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02572 | hp2 | a0001 | c0004 | t0004 | g0113 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02622 | hp1 | a0001 | c0005 | t0003 | g0157 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02622 | hp2 | a0001 | c0004 | t0004 | g0124 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02630 | hp1 | a0004 | c0011 | t0009 | g0002 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02630 | hp2 | a0001 | c0002 | t0006 | g0010 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02647 | hp1 | a0001 | c0004 | t0004 | g0123 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02647 | hp2 | a0001 | c0008 | t0002 | g0034 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02698 | hp1 | a0002 | c0009 | t0002 | g0028 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02717 | hp1 | a0001 | c0004 | t0005 | g0116 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02717 | hp2 | a0001 | c0002 | t0002 | g0036 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02723 | hp1 | a0001 | c0010 | t0004 | g0121 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02723 | hp2 | a0004 | c0011 | t0009 | g0003 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02738 | hp2 | a0002 | c0009 | t0002 | g0050 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02809 | hp1 | a0001 | c0004 | t0018 | g0135 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02809 | hp2 | a0001 | c0002 | t0002 | g0013 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02818 | hp1 | a0001 | c0010 | t0004 | g0120 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02818 | hp2 | a0001 | c0003 | t0003 | g0160 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0083 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02886 | hp2 | a0001 | c0002 | t0002 | g0026 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02895 | hp1 | a0001 | c0004 | t0008 | g0110 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02895 | hp2 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02896 | hp1 | a0001 | c0001 | t0001 | g0088 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02896 | hp2 | a0001 | c0001 | t0013 | g0125 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02897 | hp1 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0085 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02922 | hp1 | a0001 | c0007 | t0004 | g0129 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02922 | hp2 | a0001 | c0002 | t0002 | g0024 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02965 | hp1 | a0001 | c0008 | t0002 | g0020 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02965 | hp2 | a0001 | c0002 | t0006 | g0008 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02970 | hp1 | a0001 | c0021 | t0004 | g0122 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0100 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0103 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02976 | hp2 | a0001 | c0005 | t0003 | g0159 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03041 | hp1 | a0001 | c0002 | t0006 | g0007 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03041 | hp2 | a0001 | c0022 | t0005 | g0112 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0101 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03098 | hp2 | a0001 | c0002 | t0002 | g0025 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03130 | hp1 | a0001 | c0002 | t0002 | g0018 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03130 | hp2 | a0001 | c0004 | t0004 | g0114 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03239 | hp1 | a0001 | c0002 | t0002 | g0031 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03453 | hp1 | a0001 | c0005 | t0003 | g0139 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0058 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03486 | hp2 | a0001 | c0002 | t0002 | g0038 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03490 | hp1 | a0003 | c0015 | t0002 | g0012 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03490 | hp2 | a0001 | c0006 | t0001 | g0055 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03516 | hp1 | a0003 | c0020 | t0004 | g0118 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03516 | hp2 | a0001 | c0002 | t0006 | g0009 | AFR | ESN | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03540 | hp1 | a0001 | c0005 | t0003 | g0158 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03540 | hp2 | a0001 | c0002 | t0002 | g0032 | AFR | GWD | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03579 | hp1 | a0001 | c0004 | t0008 | g0111 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03579 | hp2 | a0001 | c0002 | t0014 | g0138 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0066 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03704 | hp2 | a0001 | c0003 | t0003 | g0144 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03710 | hp1 | a0001 | c0003 | t0003 | g0151 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | PJL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03831 | hp1 | a0001 | c0006 | t0001 | g0052 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03831 | hp2 | a0001 | c0003 | t0003 | g0146 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03927 | hp2 | a0001 | c0002 | t0002 | g0011 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04115 | hp1 | a0001 | c0002 | t0002 | g0037 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04115 | hp2 | a0001 | c0001 | t0019 | g0167 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04184 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04184 | hp2 | a0001 | c0003 | t0003 | g0161 | SAS | BEB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04199 | hp1 | a0001 | c0002 | t0002 | g0042 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04199 | hp2 | a0001 | c0016 | t0001 | g0082 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0059 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04204 | hp2 | a0001 | c0002 | t0002 | g0043 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04228 | hp1 | a0001 | c0003 | t0003 | g0152 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG04228 | hp2 | a0006 | c0017 | t0001 | g0079 | SAS | STU | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18906 | hp1 | a0001 | c0002 | t0015 | g0051 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18906 | hp2 | a0001 | c0005 | t0003 | g0162 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18949 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18950 | hp1 | a0001 | c0002 | t0002 | g0016 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18964 | hp1 | a0001 | c0001 | t0007 | g0165 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18975 | hp2 | a0001 | c0002 | t0002 | g0029 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18977 | hp1 | a0001 | c0019 | t0001 | g0086 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18977 | hp2 | a0001 | c0002 | t0002 | g0015 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18983 | hp1 | a0001 | c0003 | t0003 | g0153 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18991 | hp1 | a0001 | c0003 | t0003 | g0147 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA18991 | hp2 | a0001 | c0001 | t0007 | g0166 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19011 | hp1 | a0001 | c0002 | t0002 | g0040 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19054 | hp1 | a0001 | c0003 | t0003 | g0154 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19054 | hp2 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19086 | hp1 | a0001 | c0002 | t0002 | g0027 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19086 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19088 | hp1 | a0001 | c0002 | t0002 | g0044 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19088 | hp2 | a0001 | c0001 | t0007 | g0164 | EAS | JPT | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19240 | hp1 | a0007 | c0014 | t0002 | g0022 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA19240 | hp2 | a0010 | c0024 | t0004 | g0128 | AFR | YRI | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20129 | hp1 | a0001 | c0005 | t0016 | g0141 | AFR | ASW | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20129 | hp2 | a0001 | c0004 | t0008 | g0109 | AFR | ASW | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | GIH | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20905 | hp2 | a0001 | c0003 | t0003 | g0145 | SAS | GIH | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02109 | hp1 | a0001 | c0002 | t0002 | g0021 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02109 | hp2 | a0001 | c0004 | t0004 | g0119 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02559 | hp1 | a0001 | c0002 | t0002 | g0033 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG02559 | hp2 | a0001 | c0012 | t0001 | g0076 | AFR | ACB | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03471 | hp1 | a0001 | c0007 | t0017 | g0132 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
HG03471 | hp2 | a0001 | c0002 | t0002 | g0035 | AFR | MSL | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20300 | hp1 | a0001 | c0002 | t0002 | g0017 | AFR | USA | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | USA | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0075 | REF | REF | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0074 | REF | REF | NOTCH2_chr1_119906553_120074662 | NOTCH2 | chr1 | 119906553 | 120074662 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:119916243
|
T | C | 1 | a0006 | 1 | HG04228.hp2 | missense_variant | MODERATE | c.6479A>G | p.Tyr2160Cys | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6735/11425 | 6479/7416 | 2160/2471 | chr1 | 119916243 | ||
chr1:119922375
|
T | C | 1 | a0009 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.5074A>G | p.Ile1692Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/34 | 5330/11425 | 5074/7416 | 1692/2471 | chr1 | 119922375 | ||
chr1:119922384
|
T | A | 1 | a0005 | 1 | HG00408.hp1 | missense_variant | MODERATE | c.5065A>T | p.Ile1689Phe | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/34 | 5321/11425 | 5065/7416 | 1689/2471 | chr1 | 119922384 | ||
chr1:119922639
|
C | T | 1 | a0003 | 2 | HG03490.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.4999G>A | p.Val1667Ile | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 27/34 | 5255/11425 | 4999/7416 | 1667/2471 | chr1 | 119922639 | ||
chr1:119925660
|
C | T | 1 | a0007 | 1 | NA19240.hp1 | missense_variant | MODERATE | c.4156G>A | p.Gly1386Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4412/11425 | 4156/7416 | 1386/2471 | chr1 | 119925660 | ||
chr1:119935502
|
A | C | 1 | a0008 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.3625T>G | p.Phe1209Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/34 | 3881/11425 | 3625/7416 | 1209/2471 | chr1 | 119935502 | ||
chr1:119941677
|
C | A | 1 | a0009 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.2830G>T | p.Asp944Tyr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/34 | 3086/11425 | 2830/7416 | 944/2471 | chr1 | 119941677 | ||
chr1:119966426
|
T | C | 1 | a0010 | 1 | NA19240.hp2 | missense_variant | MODERATE | c.1517A>G | p.Asn506Ser | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/34 | 1773/11425 | 1517/7416 | 506/2471 | chr1 | 119966426 | ||
chr1:119997308
|
G | A | 1 | a0011 | 1 | HG02071.hp1 | missense_variant | MODERATE | c.440C>T | p.Ala147Val | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 696/11425 | 440/7416 | 147/2471 | chr1 | 119997308 | ||
chr1:120005529
|
C | T | 1 | a0002 | 2 | HG02698.hp1 HG02738.hp2 |
missense_variant | MODERATE | c.215G>A | p.Arg72His | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/34 | 471/11425 | 215/7416 | 72/2471 | chr1 | 120005529 | ||
chr1:120069350
|
G | C | 1 | a0004 | 2 | HG02630.hp1 HG02723.hp2 |
missense_variant | MODERATE | c.57C>G | p.Cys19Trp | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 313/11425 | 57/7416 | 19/2471 | chr1 | 120069350 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:119915381
|
A | T | 6 | a0001c0002a0001c0008a0001c0025others(3): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
synonymous_variant | LOW | c.7341T>A | p.Gly2447Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 7597/11425 | 7341/7416 | 2447/2471 | chr1 | 119915381 | ||
chr1:119915798
|
C | T | 1 | a0001c0016 | 1 | HG04199.hp2 | synonymous_variant | LOW | c.6924G>A | p.Gln2308Gln | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 7180/11425 | 6924/7416 | 2308/2471 | chr1 | 119915798 | ||
chr1:119916301
|
G | A | 1 | a0001c0003 | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
synonymous_variant | LOW | c.6421C>T | p.Leu2141Leu | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6677/11425 | 6421/7416 | 2141/2471 | chr1 | 119916301 | ||
chr1:119916563
|
G | A | 1 | a0001c0021 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.6159C>T | p.Arg2053Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 6415/11425 | 6159/7416 | 2053/2471 | chr1 | 119916563 | ||
chr1:119925505
|
G | A | 1 | a0001c0010 | 2 | HG02723.hp1 HG02818.hp1 |
synonymous_variant | LOW | c.4311C>T | p.Gly1437Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4567/11425 | 4311/7416 | 1437/2471 | chr1 | 119925505 | ||
chr1:119925511
|
C | T | 1 | a0001c0006 | 4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
synonymous_variant | LOW | c.4305G>A | p.Arg1435Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4561/11425 | 4305/7416 | 1435/2471 | chr1 | 119925511 | ||
chr1:119925802
|
G | A | 2 | a0001c0019a0001c0022 | 2 | HG03041.hp2 NA18977.hp1 |
synonymous_variant | LOW | c.4014C>T | p.Ser1338Ser | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/34 | 4270/11425 | 4014/7416 | 1338/2471 | chr1 | 119925802 | ||
chr1:119937960
|
G | A | 6 | a0001c0004a0001c0010a0001c0021others(3): Show | 21 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(18): Show |
synonymous_variant | LOW | c.3234C>T | p.Cys1078Cys | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/34 | 3490/11425 | 3234/7416 | 1078/2471 | chr1 | 119937960 | ||
chr1:119940621
|
C | T | 1 | a0001c0008 | 3 | HG02280.hp2 HG02647.hp2 HG02965.hp1 |
synonymous_variant | LOW | c.3117G>A | p.Thr1039Thr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/34 | 3373/11425 | 3117/7416 | 1039/2471 | chr1 | 119940621 | ||
chr1:119940704
|
A | G | 1 | a0001c0013 | 1 | HG00408.hp2 | synonymous_variant | LOW | c.3034T>C | p.Leu1012Leu | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/34 | 3290/11425 | 3034/7416 | 1012/2471 | chr1 | 119940704 | ||
chr1:119969680
|
G | A | 2 | a0001c0007a0010c0024 | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.939C>T | p.Gly313Gly | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/34 | 1195/11425 | 939/7416 | 313/2471 | chr1 | 119969680 | ||
chr1:119997292
|
G | A | 1 | a0001c0025 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.456C>T | p.Pro152Pro | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 712/11425 | 456/7416 | 152/2471 | chr1 | 119997292 | ||
chr1:119997313
|
C | T | 1 | a0001c0012 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.435G>A | p.Thr145Thr | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/34 | 691/11425 | 435/7416 | 145/2471 | chr1 | 119997313 | ||
chr1:120069392
|
G | A | 4 | a0001c0003a0001c0005a0004c0011others(1): Show | 27 | HG00280.hp2 HG00609.hp2 HG01884.hp1 others(24): Show |
synonymous_variant | LOW | c.15C>T | p.Arg5Arg | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 271/11425 | 15/7416 | 5/2471 | chr1 | 120069392 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:119911965
|
A | T | 1 | a0001c0005t0016 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3341T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 3341 | chr1 | 119911965 | |||||
chr1:119912472
|
T | C | 3 | a0001c0003t0003a0001c0003t0011a0001c0005t0003 | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*2834A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2834 | chr1 | 119912472 | |||||
chr1:119912659
|
A | G | 1 | a0001c0002t0014 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2647T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2647 | chr1 | 119912659 | |||||
chr1:119912687
|
A | G | 9 | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(6): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*2619T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2619 | chr1 | 119912687 | |||||
chr1:119912818
|
A | G | 26 | a0001c0001t0013a0001c0002t0002a0001c0002t0006others(23): Show | 100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*2488T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2488 | chr1 | 119912818 | |||||
chr1:119912963
|
T | C | 10 | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(7): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
3_prime_UTR_variant | MODIFIER | c.*2343A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2343 | chr1 | 119912963 | |||||
chr1:119913295
|
C | A | 1 | a0001c0002t0006 | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2011G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 2011 | chr1 | 119913295 | |||||
chr1:119913509
|
T | A | 1 | a0001c0004t0018 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1797A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1797 | chr1 | 119913509 | |||||
chr1:119913769
|
T | TCTA | 3 | a0001c0003t0003a0001c0003t0011a0001c0005t0003 | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1534_*1536dupTAG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1536 | chr1 | 119913769 | |||||
chr1:119913940
|
G | T | 9 | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(6): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
3_prime_UTR_variant | MODIFIER | c.*1366C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 1366 | chr1 | 119913940 | |||||
chr1:119914564
|
A | G | 2 | a0001c0004t0005a0001c0022t0005 | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*742T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 742 | chr1 | 119914564 | |||||
chr1:119914815
|
C | T | 1 | a0001c0001t0013 | 1 | HG02896.hp2 | 3_prime_UTR_variant | MODIFIER | c.*491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 491 | chr1 | 119914815 | |||||
chr1:119914878
|
C | T | 4 | a0001c0003t0003a0001c0003t0011a0001c0004t0008others(1): Show | 25 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*428G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 34/34 | 428 | chr1 | 119914878 | |||||
chr1:120069426
|
T | TCCTCCGC others(2): Show |
1 | a0004c0011t0009 | 2 | HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-21_-20insCGGCGGAG others(1): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 21 | chr1 | 120069426 | |||||
chr1:120069426
|
TCCG | T | 2 | a0001c0001t0012a0001c0003t0011 | 2 | HG00140.hp1 HG02300.hp2 |
5_prime_UTR_variant | MODIFIER | c.-23_-21delCGG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 21 | chr1 | 120069426 | |||||
chr1:120069429
|
G | T | 1 | a0001c0025t0010 | 1 | HG02258.hp2 | 5_prime_UTR_variant | MODIFIER | c.-23C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 23 | chr1 | 120069429 | |||||
chr1:120069554
|
C | T | 1 | a0004c0011t0009 | 2 | HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-148G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 148 | chr1 | 120069554 | |||||
chr1:120069575
|
C | A | 2 | a0001c0001t0007a0011c0026t0007 | 4 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-169G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 169 | chr1 | 120069575 | |||||
chr1:120069620
|
G | C | 1 | a0001c0001t0019 | 1 | HG04115.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-214C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | chr1 | 120069620 | ||||||
chr1:120069651
|
A | G | 2 | a0001c0025t0010a0004c0011t0009 | 3 | HG02258.hp2 HG02630.hp1 HG02723.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-245T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | chr1 | 120069651 | ||||||
chr1:120069655
|
A | G | 2 | a0001c0025t0010a0004c0011t0009 | 3 | HG02258.hp2 HG02630.hp1 HG02723.hp2 |
5_prime_UTR_variant | MODIFIER | c.-249T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/34 | 249 | chr1 | 120069655 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:119916735
|
T | C | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.6028-41A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916735 | ||||||
chr1:119916746
|
T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6028-52A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916746 | ||||||
chr1:119916778
|
C | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6028-84G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916778 | ||||||
chr1:119916781
|
C | T | 2 | a0001c0001t0001g0089a0001c0001t0001g0134 | 2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.6028-87G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916781 | ||||||
chr1:119916810
|
G | A | 6 | a0001c0002t0002g0044a0001c0002t0002g0045a0001c0002t0002g0046others(3): Show | 6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.6028-116C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916810 | ||||||
chr1:119916953
|
T | C | 1 | a0001c0005t0003g0158 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.6028-259A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119916953 | ||||||
chr1:119917003
|
G | C | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.6028-309C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917003 | ||||||
chr1:119917021
|
A | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6028-327T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917021 | ||||||
chr1:119917030
|
A | AAGGAAAA others(50): Show |
1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6028-393_6028-337d others(59): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917030 | ||||||
chr1:119917098
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.6028-404C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917098 | ||||||
chr1:119917351
|
C | G | 5 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0101others(2): Show | 5 | HG01433.hp1 HG02896.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.6027+314G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917351 | ||||||
chr1:119917618
|
G | T | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.6027+47C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 33/33 | chr1 | 119917618 | ||||||
chr1:119918011
|
A | G | 26 | a0001c0001t0001g0102a0001c0004t0004g0113a0001c0004t0004g0114others(23): Show | 26 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(23): Show |
intron_variant | MODIFIER | c.5930-249T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 32/33 | chr1 | 119918011 | ||||||
chr1:119918293
|
A | C | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.5929+113T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 32/33 | chr1 | 119918293 | ||||||
chr1:119918630
|
C | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.5782-77G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918630 | ||||||
chr1:119918913
|
T | A | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.5782-360A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918913 | ||||||
chr1:119918934
|
G | A | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.5781+378C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918934 | ||||||
chr1:119918950
|
AAGCCCAT others(2): Show |
A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.5781+353_5781+361d others(11): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119918950 | ||||||
chr1:119919006
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.5781+306C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 31/33 | chr1 | 119919006 | ||||||
chr1:119919845
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.5480-232G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119919845 | ||||||
chr1:119919901
|
C | A | 1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5480-288G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119919901 | ||||||
chr1:119920225
|
T | C | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | splice_region_variant&intron_variant | LOW | c.5479+4A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 30/33 | chr1 | 119920225 | ||||||
chr1:119920421
|
C | T | 2 | a0001c0001t0001g0084a0001c0001t0001g0090 | 2 | HG00323.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.5311-24G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920421 | ||||||
chr1:119920607
|
C | T | 106 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0063others(103): Show | 107 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.5311-210G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920607 | ||||||
chr1:119920775
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.5311-378G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920775 | ||||||
chr1:119920969
|
G | A | 10 | a0001c0004t0004g0123a0001c0004t0004g0124a0001c0004t0004g0126others(7): Show | 10 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.5311-572C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119920969 | ||||||
chr1:119921031
|
G | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.5311-634C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921031 | ||||||
chr1:119921115
|
C | G | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5310+598G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921115 | ||||||
chr1:119921250
|
T | C | 5 | a0001c0001t0001g0069a0001c0001t0007g0164a0001c0001t0007g0165others(2): Show | 5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.5310+463A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921250 | ||||||
chr1:119921284
|
C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5310+429G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921284 | ||||||
chr1:119921378
|
G | A | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.5310+335C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921378 | ||||||
chr1:119921518
|
A | C | 4 | a0001c0006t0001g0052a0001c0006t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.5310+195T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921518 | ||||||
chr1:119921542
|
C | T | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.5310+171G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921542 | ||||||
chr1:119921629
|
A | G | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5310+84T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 29/33 | chr1 | 119921629 | ||||||
chr1:119921998
|
G | A | 1 | a0003c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.5214-189C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 28/33 | chr1 | 119921998 | ||||||
chr1:119922533
|
ACCTCAAC others(3): Show |
A | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5002+93_5003-88del others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 27/33 | chr1 | 119922533 | ||||||
chr1:119922961
|
A | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.4860-183T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119922961 | ||||||
chr1:119923058
|
C | T | 2 | a0001c0001t0001g0099a0001c0001t0001g0136 | 2 | HG01978.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.4860-280G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119923058 | ||||||
chr1:119923485
|
G | A | 97 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.4859+152C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 26/33 | chr1 | 119923485 | ||||||
chr1:119924098
|
C | T | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4512-114G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924098 | ||||||
chr1:119924131
|
G | C | 20 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(17): Show | 20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.4512-147C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924131 | ||||||
chr1:119924880
|
G | A | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4511+425C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119924880 | ||||||
chr1:119925135
|
C | G | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4511+170G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119925135 | ||||||
chr1:119925253
|
G | A | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4511+52C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 25/33 | chr1 | 119925253 | ||||||
chr1:119925864
|
T | C | 4 | a0001c0006t0001g0052a0001c0006t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4006-54A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 24/33 | chr1 | 119925864 | ||||||
chr1:119926454
|
T | C | 7 | a0001c0001t0001g0056a0001c0001t0001g0085a0001c0001t0001g0088others(4): Show | 7 | HG00140.hp1 HG01978.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.4005+45A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 24/33 | chr1 | 119926454 | ||||||
chr1:119926910
|
C | A | 1 | a0002c0009t0002g0028 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3893-299G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119926910 | ||||||
chr1:119927163
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3893-552T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927163 | ||||||
chr1:119927260
|
C | T | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3893-649G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927260 | ||||||
chr1:119927360
|
C | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3893-749G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927360 | ||||||
chr1:119927454
|
G | A | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3893-843C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927454 | ||||||
chr1:119927525
|
AT | A | 64 | a0001c0001t0001g0133a0001c0002t0002g0001a0001c0002t0002g0011others(61): Show | 65 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.3893-915delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927525 | ||||||
chr1:119927689
|
C | T | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.3893-1078G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927689 | ||||||
chr1:119927691
|
G | A | 3 | a0001c0002t0002g0046a0001c0002t0002g0047a0001c0002t0002g0049 | 3 | HG00280.hp1 HG00323.hp2 HG01081.hp2 |
intron_variant | MODIFIER | c.3893-1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927691 | ||||||
chr1:119927745
|
G | A | 1 | a0001c0001t0001g0097 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3893-1134C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927745 | ||||||
chr1:119927822
|
T | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(2): Show | 5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.3892+1154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927822 | ||||||
chr1:119927896
|
G | A | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3892+1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119927896 | ||||||
chr1:119928005
|
G | A | 5 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(2): Show | 5 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3892+971C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928005 | ||||||
chr1:119928561
|
TG | T | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3892+414delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928561 | ||||||
chr1:119928601
|
A | G | 50 | a0001c0001t0001g0133a0001c0002t0002g0001a0001c0002t0002g0011others(47): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3892+375T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928601 | ||||||
chr1:119928801
|
C | T | 160 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(157): Show | 161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.3892+175G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928801 | ||||||
chr1:119928918
|
T | C | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3892+58A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 23/33 | chr1 | 119928918 | ||||||
chr1:119929234
|
C | T | 50 | a0001c0001t0001g0133a0001c0002t0002g0001a0001c0002t0002g0011others(47): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3656-22G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119929234 | ||||||
chr1:119929884
|
C | A | 50 | a0001c0001t0001g0133a0001c0002t0002g0001a0001c0002t0002g0011others(47): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.3656-672G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119929884 | ||||||
chr1:119930443
|
A | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.3656-1231T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930443 | ||||||
chr1:119930642
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.3656-1430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930642 | ||||||
chr1:119930703
|
C | T | 1 | a0005c0018t0001g0094 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.3656-1491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930703 | ||||||
chr1:119930802
|
A | T | 47 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(44): Show | 48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-1590T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930802 | ||||||
chr1:119930912
|
C | A | 1 | a0001c0003t0003g0150 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.3656-1700G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119930912 | ||||||
chr1:119931034
|
T | G | 11 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(8): Show | 11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.3656-1822A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931034 | ||||||
chr1:119931050
|
C | A | 1 | a0001c0002t0002g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.3656-1838G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931050 | ||||||
chr1:119931059
|
C | T | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.3656-1847G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931059 | ||||||
chr1:119931101
|
T | TC | 41 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(38): Show | 42 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.3656-1890_3656-188 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931101 | ||||||
chr1:119931101
|
T | TCA | 6 | a0001c0002t0002g0015a0001c0002t0002g0041a0001c0002t0006g0007others(3): Show | 6 | HG01361.hp1 HG02630.hp2 HG02698.hp1 others(3): Show |
intron_variant | MODIFIER | c.3656-1890_3656-188 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931101 | ||||||
chr1:119931102
|
T | A | 47 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(44): Show | 48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-1890A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931102 | ||||||
chr1:119931102
|
T | C | 34 | a0001c0001t0013g0125a0001c0003t0003g0144a0001c0003t0003g0145others(31): Show | 34 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(31): Show |
intron_variant | MODIFIER | c.3656-1890A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931102 | ||||||
chr1:119931103
|
A | C | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3656-1891T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931103 | ||||||
chr1:119931237
|
A | C | 1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3656-2025T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931237 | ||||||
chr1:119931365
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3656-2153C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931365 | ||||||
chr1:119931389
|
T | A | 16 | a0001c0002t0002g0025a0001c0004t0004g0113a0001c0004t0004g0114others(13): Show | 16 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3656-2177A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931389 | ||||||
chr1:119931437
|
G | A | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3656-2225C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931437 | ||||||
chr1:119931555
|
C | T | 47 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(44): Show | 48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.3656-2343G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931555 | ||||||
chr1:119931636
|
T | C | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3656-2424A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931636 | ||||||
chr1:119931884
|
G | T | 63 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(60): Show | 63 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show |
intron_variant | MODIFIER | c.3656-2672C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931884 | ||||||
chr1:119931978
|
A | ATG | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3656-2768_3656-276 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931978 | ||||||
chr1:119931984
|
GTA | G | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3656-2774_3656-277 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931984 | ||||||
chr1:119931986
|
A | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3656-2774T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119931986 | ||||||
chr1:119932060
|
A | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3656-2848T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932060 | ||||||
chr1:119932276
|
T | C | 5 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(2): Show | 5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.3656-3064A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932276 | ||||||
chr1:119932519
|
G | A | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3655+2953C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932519 | ||||||
chr1:119932607
|
A | ATATC | 33 | a0001c0001t0001g0058a0001c0001t0001g0062a0001c0001t0001g0072others(30): Show | 33 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(30): Show |
intron_variant | MODIFIER | c.3655+2861_3655+286 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | ||||||
chr1:119932607
|
A | ATATCTAT others(1): Show |
5 | a0001c0001t0001g0065a0001c0001t0001g0104a0001c0001t0001g0107others(2): Show | 5 | HG01891.hp2 HG02273.hp2 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.3655+2857_3655+286 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | ||||||
chr1:119932607
|
ATATC | A | 35 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0067others(32): Show | 35 | HG00280.hp1 HG00609.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.3655+2861_3655+286 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | ||||||
chr1:119932607
|
ATATCTAT others(1): Show |
A | 26 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(23): Show | 27 | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.3655+2857_3655+286 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119932607 | ||||||
chr1:119933007
|
T | C | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3655+2465A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119933007 | ||||||
chr1:119933385
|
T | TA | 7 | a0001c0002t0002g0030a0001c0002t0002g0032a0001c0002t0002g0033others(4): Show | 7 | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.3655+2086dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119933385 | ||||||
chr1:119934290
|
T | C | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3655+1182A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934290 | ||||||
chr1:119934352
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3655+1120A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934352 | ||||||
chr1:119934913
|
T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3655+559A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119934913 | ||||||
chr1:119935375
|
C | A | 77 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(74): Show | 78 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.3655+97G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 22/33 | chr1 | 119935375 | ||||||
chr1:119935662
|
T | C | 62 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(59): Show | 62 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.3523-58A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935662 | ||||||
chr1:119935729
|
T | G | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3523-125A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935729 | ||||||
chr1:119935878
|
T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.3523-274A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119935878 | ||||||
chr1:119936138
|
G | A | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.3523-534C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936138 | ||||||
chr1:119936184
|
C | T | 17 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(14): Show | 18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.3523-580G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936184 | ||||||
chr1:119936580
|
C | G | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3522+702G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936580 | ||||||
chr1:119936855
|
A | AT | 16 | a0001c0001t0013g0125a0001c0002t0002g0015a0001c0002t0006g0008others(13): Show | 16 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.3522+426dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 21/33 | chr1 | 119936855 | ||||||
chr1:119937520
|
T | C | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3338-54A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/33 | chr1 | 119937520 | ||||||
chr1:119937771
|
T | C | 160 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(157): Show | 161 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.3337+86A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 20/33 | chr1 | 119937771 | ||||||
chr1:119938086
|
C | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.3184-76G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938086 | ||||||
chr1:119938165
|
T | C | 2 | a0001c0002t0002g0042a0001c0002t0002g0043 | 2 | HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.3184-155A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938165 | ||||||
chr1:119938882
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3184-872C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938882 | ||||||
chr1:119938932
|
G | A | 2 | a0001c0004t0005g0115a0001c0004t0005g0116 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3184-922C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119938932 | ||||||
chr1:119939273
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3184-1263A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939273 | ||||||
chr1:119939315
|
A | G | 1 | a0001c0002t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3183+1240T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939315 | ||||||
chr1:119939416
|
G | T | 8 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(5): Show | 8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.3183+1139C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939416 | ||||||
chr1:119939440
|
T | C | 4 | a0001c0003t0003g0150a0001c0003t0003g0153a0001c0003t0003g0154others(1): Show | 4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+1115A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939440 | ||||||
chr1:119939466
|
C | T | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+1089G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939466 | ||||||
chr1:119939578
|
T | C | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3183+977A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939578 | ||||||
chr1:119939872
|
CAAGTT | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.3183+678_3183+682d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939872 | ||||||
chr1:119939979
|
C | A | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3183+576G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119939979 | ||||||
chr1:119940185
|
A | T | 1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3183+370T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940185 | ||||||
chr1:119940267
|
C | T | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3183+288G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940267 | ||||||
chr1:119940284
|
A | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.3183+271T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 19/33 | chr1 | 119940284 | ||||||
chr1:119940874
|
T | C | 8 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(5): Show | 8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.2982-118A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119940874 | ||||||
chr1:119941007
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2982-251A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941007 | ||||||
chr1:119941040
|
T | G | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2982-284A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941040 | ||||||
chr1:119941298
|
G | C | 1 | a0001c0001t0001g0106 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.2981+228C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941298 | ||||||
chr1:119941390
|
TAGG | T | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2981+133_2981+135d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941390 | ||||||
chr1:119941515
|
T | C | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2981+11A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 18/33 | chr1 | 119941515 | ||||||
chr1:119941798
|
G | A | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.2753-44C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119941798 | ||||||
chr1:119941882
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2753-128C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119941882 | ||||||
chr1:119942095
|
T | C | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2753-341A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942095 | ||||||
chr1:119942134
|
T | A | 1 | a0001c0002t0002g0031 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2753-380A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942134 | ||||||
chr1:119942189
|
CCT | C | 2 | a0001c0004t0004g0113a0001c0004t0004g0114 | 2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2753-437_2753-436d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942189 | ||||||
chr1:119942712
|
C | A | 2 | a0001c0005t0001g0140a0001c0005t0016g0141 | 2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2753-958G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942712 | ||||||
chr1:119942775
|
A | G | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2753-1021T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942775 | ||||||
chr1:119942873
|
CT | C | 65 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0014others(62): Show | 66 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.2753-1120delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942873 | ||||||
chr1:119942894
|
G | A | 97 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.2753-1140C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119942894 | ||||||
chr1:119943209
|
C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2753-1455G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943209 | ||||||
chr1:119943268
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2753-1514A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943268 | ||||||
chr1:119943315
|
C | T | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2753-1561G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943315 | ||||||
chr1:119943438
|
G | A | 21 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(18): Show | 21 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.2753-1684C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943438 | ||||||
chr1:119943924
|
C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2753-2170G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119943924 | ||||||
chr1:119944361
|
C | A | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2753-2607G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944361 | ||||||
chr1:119944533
|
T | TA | 11 | a0001c0001t0001g0056a0001c0001t0001g0071a0001c0001t0013g0125others(8): Show | 11 | HG02145.hp1 HG02559.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.2753-2780dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944533 | ||||||
chr1:119944631
|
GGAGA | G | 2 | a0001c0006t0001g0052a0001c0006t0001g0055 | 2 | HG03490.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.2753-2881_2753-287 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944631 | ||||||
chr1:119944747
|
A | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2753-2993T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119944747 | ||||||
chr1:119945013
|
T | G | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2753-3259A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945013 | ||||||
chr1:119945248
|
T | G | 1 | a0001c0001t0001g0077 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2752+3166A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945248 | ||||||
chr1:119945315
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+3099C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945315 | ||||||
chr1:119945860
|
T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2752+2554A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119945860 | ||||||
chr1:119946257
|
A | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+2157T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946257 | ||||||
chr1:119946264
|
C | G | 1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2752+2150G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946264 | ||||||
chr1:119946434
|
A | T | 62 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(59): Show | 62 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.2752+1980T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946434 | ||||||
chr1:119946567
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2752+1847G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946567 | ||||||
chr1:119946626
|
T | C | 5 | a0001c0001t0001g0069a0001c0001t0007g0164a0001c0001t0007g0165others(2): Show | 5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2752+1788A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946626 | ||||||
chr1:119946687
|
C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2752+1727G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946687 | ||||||
chr1:119946712
|
T | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+1702A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946712 | ||||||
chr1:119946785
|
C | T | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2752+1629G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946785 | ||||||
chr1:119946930
|
T | C | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2752+1484A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119946930 | ||||||
chr1:119947254
|
A | G | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2752+1160T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947254 | ||||||
chr1:119947355
|
T | A | 2 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | HG02602.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.2752+1059A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947355 | ||||||
chr1:119947423
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+991A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947423 | ||||||
chr1:119947436
|
T | C | 1 | a0001c0002t0002g0014 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2752+978A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947436 | ||||||
chr1:119947581
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2752+833A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947581 | ||||||
chr1:119947621
|
C | G | 1 | a0001c0001t0001g0092 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2752+793G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947621 | ||||||
chr1:119947639
|
C | A | 1 | a0002c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2752+775G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947639 | ||||||
chr1:119947749
|
T | C | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2752+665A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 17/33 | chr1 | 119947749 | ||||||
chr1:119948678
|
G | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2600-112C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948678 | ||||||
chr1:119948805
|
G | A | 3 | a0001c0001t0001g0063a0001c0001t0001g0100a0009c0023t0004g0081 | 3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2599+202C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948805 | ||||||
chr1:119948995
|
C | G | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2599+12G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 16/33 | chr1 | 119948995 | ||||||
chr1:119949191
|
C | T | 1 | a0001c0002t0002g0029 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.2480-65G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949191 | ||||||
chr1:119949312
|
G | GT | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.2480-187dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949312 | ||||||
chr1:119949372
|
C | A | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.2480-246G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949372 | ||||||
chr1:119949383
|
C | CT | 6 | a0001c0001t0001g0056a0001c0002t0002g0037a0001c0002t0006g0010others(3): Show | 6 | HG02055.hp1 HG02145.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.2480-258dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949383 | ||||||
chr1:119949541
|
G | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.2480-415C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949541 | ||||||
chr1:119949577
|
G | A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2480-451C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119949577 | ||||||
chr1:119950096
|
C | G | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2479+628G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119950096 | ||||||
chr1:119950180
|
CAGATTCA others(15): Show |
C | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2479+522_2479+543d others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 15/33 | chr1 | 119950180 | ||||||
chr1:119951081
|
C | A | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2366-244G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951081 | ||||||
chr1:119951267
|
C | G | 4 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(1): Show | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2366-430G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951267 | ||||||
chr1:119951403
|
T | C | 166 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(163): Show | 167 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.2366-566A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951403 | ||||||
chr1:119951480
|
T | G | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.2366-643A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951480 | ||||||
chr1:119951999
|
G | A | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2366-1162C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119951999 | ||||||
chr1:119952172
|
T | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.2366-1335A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952172 | ||||||
chr1:119952544
|
TC | T | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2365+998delG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952544 | ||||||
chr1:119952630
|
G | A | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2365+913C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952630 | ||||||
chr1:119952883
|
T | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+660A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119952883 | ||||||
chr1:119953168
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2365+375C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953168 | ||||||
chr1:119953300
|
C | A | 1 | a0001c0001t0001g0057 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2365+243G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953300 | ||||||
chr1:119953305
|
C | T | 2 | a0001c0003t0003g0148a0001c0003t0003g0149 | 2 | HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.2365+238G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953305 | ||||||
chr1:119953311
|
G | C | 99 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(96): Show | 100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.2365+232C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953311 | ||||||
chr1:119953313
|
C | CA | 39 | a0001c0001t0013g0125a0001c0003t0003g0144a0001c0003t0003g0145others(36): Show | 39 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(36): Show |
intron_variant | MODIFIER | c.2365+229dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953313 | ||||||
chr1:119953313
|
C | CAA | 57 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(54): Show | 58 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(55): Show |
intron_variant | MODIFIER | c.2365+228_2365+229d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953313 | ||||||
chr1:119953496
|
A | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+47T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953496 | ||||||
chr1:119953504
|
A | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2365+39T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 14/33 | chr1 | 119953504 | ||||||
chr1:119954059
|
TG | T | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.2220-372delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954059 | ||||||
chr1:119954075
|
A | G | 1 | a0001c0004t0008g0110 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2220-387T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954075 | ||||||
chr1:119954472
|
T | C | 3 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0018 | 4 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2219+568A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954472 | ||||||
chr1:119954529
|
A | G | 2 | a0001c0004t0004g0123a0001c0004t0004g0124 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2219+511T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 13/33 | chr1 | 119954529 | ||||||
chr1:119955463
|
G | C | 63 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(60): Show | 63 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show |
intron_variant | MODIFIER | c.2027-231C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955463 | ||||||
chr1:119955627
|
C | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-395G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955627 | ||||||
chr1:119955767
|
C | CA | 85 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(82): Show | 86 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.2027-536_2027-535i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955767 | ||||||
chr1:119955944
|
C | A | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2027-712G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119955944 | ||||||
chr1:119956173
|
A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2027-941T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956173 | ||||||
chr1:119956674
|
G | A | 2 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | HG01433.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2027-1442C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956674 | ||||||
chr1:119956950
|
A | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-1718T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956950 | ||||||
chr1:119956951
|
G | A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.2027-1719C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119956951 | ||||||
chr1:119957009
|
G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2027-1777C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957009 | ||||||
chr1:119957122
|
G | A | 1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2027-1890C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957122 | ||||||
chr1:119957131
|
G | A | 2 | a0001c0001t0001g0070a0001c0006t0001g0054 | 2 | HG00738.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.2027-1899C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957131 | ||||||
chr1:119957575
|
C | G | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.2026+1817G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957575 | ||||||
chr1:119957761
|
A | G | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2026+1631T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957761 | ||||||
chr1:119957827
|
T | TC | 2 | a0001c0001t0001g0095a0001c0001t0001g0134 | 2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2026+1564_2026+156 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957827 | ||||||
chr1:119957828
|
AAAC | A | 2 | a0001c0002t0002g0044a0002c0009t0002g0050 | 2 | HG02738.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957828 | ||||||
chr1:119957829
|
A | AAC | 17 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0072others(14): Show | 17 | HG00280.hp2 HG01081.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACAC | 15 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0060others(12): Show | 15 | HG00735.hp2 HG01433.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.2026+1559_2026+156 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACAC | 13 | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0083others(10): Show | 13 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(10): Show |
intron_variant | MODIFIER | c.2026+1557_2026+156 others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACACA others(1): Show |
15 | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0097others(12): Show | 15 | HG00408.hp1 HG02132.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.2026+1555_2026+156 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACACA others(3): Show |
2 | a0001c0001t0001g0065a0001c0001t0019g0167 | 2 | HG02273.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2026+1553_2026+156 others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACACA others(5): Show |
2 | a0001c0001t0001g0084a0001c0001t0001g0099 | 2 | HG02738.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.2026+1551_2026+156 others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACACA others(7): Show |
1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2026+1549_2026+156 others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AACACACA others(9): Show |
1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2026+1547_2026+156 others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | AC | 2 | a0001c0003t0003g0161a0001c0010t0004g0121 | 2 | HG02723.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.2026+1562_2026+156 others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | ACACAC | 4 | a0001c0001t0001g0059a0001c0001t0001g0104a0001c0001t0001g0136others(1): Show | 4 | HG01978.hp1 HG04204.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.2026+1562_2026+156 others(9): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
A | C | 2 | a0001c0001t0001g0095a0001c0001t0001g0134 | 2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2026+1563T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AAC | A | 17 | a0001c0001t0001g0066a0001c0001t0001g0080a0001c0001t0001g0085others(14): Show | 17 | HG01081.hp2 HG02280.hp1 HG02630.hp2 others(14): Show |
intron_variant | MODIFIER | c.2026+1561_2026+156 others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AACAC | A | 22 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0016others(19): Show | 22 | HG00323.hp2 HG00735.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+1559_2026+156 others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AACACAC | A | 4 | a0001c0002t0002g0030a0001c0002t0002g0032a0001c0002t0002g0048others(1): Show | 4 | HG01243.hp1 HG02055.hp2 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.2026+1557_2026+156 others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AACACACA others(1): Show |
A | 7 | a0001c0002t0002g0033a0001c0002t0002g0035a0001c0002t0002g0036others(4): Show | 7 | HG02559.hp1 HG02717.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.2026+1555_2026+156 others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AACACACA others(5): Show |
A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2026+1551_2026+156 others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957829
|
AACACACA others(11): Show |
A | 2 | a0001c0001t0001g0087a0001c0001t0001g0089 | 2 | HG01433.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.2026+1545_2026+156 others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957829 | ||||||
chr1:119957878
|
ACACAC | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2026+1509_2026+151 others(9): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119957878 | ||||||
chr1:119958017
|
T | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+1375A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958017 | ||||||
chr1:119958047
|
T | G | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2026+1345A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958047 | ||||||
chr1:119958117
|
A | T | 2 | a0002c0009t0002g0028a0002c0009t0002g0050 | 2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.2026+1275T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958117 | ||||||
chr1:119958328
|
C | G | 17 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(14): Show | 18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.2026+1064G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958328 | ||||||
chr1:119958714
|
A | ATG | 57 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(54): Show | 57 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.2026+676_2026+677d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | ||||||
chr1:119958714
|
A | ATGTG | 8 | a0001c0001t0013g0125a0001c0004t0004g0124a0001c0004t0004g0126others(5): Show | 8 | HG00408.hp2 HG01891.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2026+674_2026+677d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | ||||||
chr1:119958714
|
ATG | A | 19 | a0001c0001t0001g0101a0001c0002t0002g0032a0001c0003t0003g0144others(16): Show | 19 | HG00609.hp2 HG01081.hp1 HG01978.hp2 others(16): Show |
intron_variant | MODIFIER | c.2026+676_2026+677d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | ||||||
chr1:119958714
|
ATGTG | A | 54 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(51): Show | 55 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.2026+674_2026+677d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | ||||||
chr1:119958714
|
ATGTGTGT others(1): Show |
A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2026+670_2026+677d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958714 | ||||||
chr1:119958752
|
G | A | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2026+640C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119958752 | ||||||
chr1:119959089
|
A | G | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+303T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959089 | ||||||
chr1:119959141
|
T | C | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.2026+251A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959141 | ||||||
chr1:119959308
|
A | C | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2026+84T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 12/33 | chr1 | 119959308 | ||||||
chr1:119960347
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1916-845C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960347 | ||||||
chr1:119960507
|
C | A | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1916-1005G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960507 | ||||||
chr1:119960956
|
G | A | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1916-1454C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119960956 | ||||||
chr1:119961033
|
C | T | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1916-1531G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961033 | ||||||
chr1:119961245
|
C | T | 1 | a0001c0002t0002g0033 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1916-1743G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961245 | ||||||
chr1:119961289
|
AG | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.1916-1788delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961289 | ||||||
chr1:119961302
|
T | C | 1 | a0001c0003t0003g0153 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1916-1800A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961302 | ||||||
chr1:119961465
|
A | G | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1916-1963T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961465 | ||||||
chr1:119961490
|
C | CACA | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1916-1991_1916-198 others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961490 | ||||||
chr1:119961595
|
C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1915+1979G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119961595 | ||||||
chr1:119962285
|
T | C | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1915+1289A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962285 | ||||||
chr1:119962362
|
A | G | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.1915+1212T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962362 | ||||||
chr1:119962390
|
G | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1915+1184C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962390 | ||||||
chr1:119962558
|
C | G | 2 | a0001c0004t0004g0123a0001c0004t0004g0124 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1915+1016G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962558 | ||||||
chr1:119962897
|
C | T | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1915+677G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962897 | ||||||
chr1:119962909
|
G | A | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.1915+665C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962909 | ||||||
chr1:119962917
|
C | A | 1 | a0005c0018t0001g0094 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1915+657G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119962917 | ||||||
chr1:119963166
|
A | AGAAG | 37 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(34): Show | 38 | HG01109.hp1 HG01243.hp1 HG01361.hp1 others(35): Show |
intron_variant | MODIFIER | c.1915+404_1915+407d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | ||||||
chr1:119963166
|
A | AGAAGGAA others(1): Show |
14 | a0001c0002t0002g0032a0001c0002t0002g0042a0001c0002t0002g0044others(11): Show | 14 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.1915+400_1915+407d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | ||||||
chr1:119963166
|
A | AGAAGGAA others(5): Show |
1 | a0001c0002t0002g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1915+407_1915+408i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | ||||||
chr1:119963166
|
A | AGAAGGAA others(9): Show |
1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1915+407_1915+408i others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963166 | ||||||
chr1:119963172
|
AAGGT | A | 18 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0147others(15): Show | 18 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.1915+398_1915+401d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963172 | ||||||
chr1:119963176
|
T | A | 74 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(71): Show | 75 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1915+398A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963176 | ||||||
chr1:119963180
|
T | A | 92 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(89): Show | 93 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.1915+394A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGA | 5 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0101others(2): Show | 5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1915+390_1915+393d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGAAGG others(1): Show |
6 | a0001c0001t0001g0083a0001c0001t0001g0097a0001c0001t0001g0107others(3): Show | 6 | HG00408.hp2 HG02148.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.1915+386_1915+393d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGAAGG others(5): Show |
51 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(48): Show | 51 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(48): Show |
intron_variant | MODIFIER | c.1915+382_1915+393d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGAAGG others(9): Show |
3 | a0001c0005t0001g0140a0001c0005t0016g0141a0008c0027t0001g0142 | 3 | HG00280.hp2 HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1915+378_1915+393d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGAAGG others(13): Show |
1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1915+374_1915+393d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963180
|
T | TAGGAAGG others(8): Show |
1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1915+393_1915+394i others(17): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963180 | ||||||
chr1:119963373
|
G | C | 59 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(56): Show | 59 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.1915+201C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963373 | ||||||
chr1:119963373
|
G | T | 1 | a0001c0001t0001g0078 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1915+201C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963373 | ||||||
chr1:119963409
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1915+165C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963409 | ||||||
chr1:119963485
|
G | A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.1915+89C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 11/33 | chr1 | 119963485 | ||||||
chr1:119964163
|
T | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.1682-356A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964163 | ||||||
chr1:119964172
|
C | A | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1682-365G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964172 | ||||||
chr1:119964322
|
T | C | 12 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(9): Show | 12 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.1682-515A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964322 | ||||||
chr1:119964365
|
C | T | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1682-558G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964365 | ||||||
chr1:119964395
|
T | C | 2 | a0001c0001t0001g0084a0001c0001t0001g0090 | 2 | HG00323.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1682-588A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964395 | ||||||
chr1:119964424
|
C | G | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1682-617G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964424 | ||||||
chr1:119964516
|
C | G | 3 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009 | 3 | HG02965.hp2 HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1682-709G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 10/33 | chr1 | 119964516 | ||||||
chr1:119965901
|
A | G | 72 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(69): Show | 73 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.1568-335T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119965901 | ||||||
chr1:119965945
|
A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1568-379T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119965945 | ||||||
chr1:119966074
|
T | A | 4 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(1): Show | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.1567+302A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966074 | ||||||
chr1:119966180
|
T | C | 99 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(96): Show | 100 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.1567+196A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966180 | ||||||
chr1:119966364
|
G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1567+12C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 9/33 | chr1 | 119966364 | ||||||
chr1:119966624
|
A | G | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1454-135T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966624 | ||||||
chr1:119966684
|
G | A | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1454-195C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966684 | ||||||
chr1:119966729
|
A | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1454-240T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966729 | ||||||
chr1:119966903
|
G | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1454-414C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119966903 | ||||||
chr1:119967160
|
A | G | 2 | a0001c0001t0001g0095a0001c0001t0001g0134 | 2 | NA18949.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.1453+273T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967160 | ||||||
chr1:119967313
|
C | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1453+120G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967313 | ||||||
chr1:119967366
|
G | C | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1453+67C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 8/33 | chr1 | 119967366 | ||||||
chr1:119967754
|
T | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1265-133A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967754 | ||||||
chr1:119967784
|
G | A | 1 | a0001c0003t0003g0150 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1265-163C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967784 | ||||||
chr1:119967799
|
G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1265-178C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967799 | ||||||
chr1:119967805
|
CAT | C | 2 | a0001c0003t0003g0144a0001c0003t0003g0146 | 2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.1265-186_1265-185d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 7/33 | chr1 | 119967805 | ||||||
chr1:119968258
|
A | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1109-26T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968258 | ||||||
chr1:119968336
|
G | C | 1 | a0001c0002t0002g0030 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1109-104C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968336 | ||||||
chr1:119968377
|
G | A | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1109-145C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968377 | ||||||
chr1:119968390
|
G | T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1109-158C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968390 | ||||||
chr1:119968450
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.1109-218A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968450 | ||||||
chr1:119968763
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1109-531C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968763 | ||||||
chr1:119968925
|
T | C | 5 | a0001c0001t0001g0069a0001c0001t0007g0164a0001c0001t0007g0165others(2): Show | 5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.1108+586A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119968925 | ||||||
chr1:119969154
|
C | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1108+357G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969154 | ||||||
chr1:119969481
|
T | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.1108+30A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969481 | ||||||
chr1:119969493
|
C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1108+18G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 6/33 | chr1 | 119969493 | ||||||
chr1:119969910
|
C | G | 3 | a0001c0007t0004g0129a0001c0007t0004g0131a0010c0024t0004g0128 | 3 | HG02572.hp1 HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.875-166G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119969910 | ||||||
chr1:119970494
|
A | G | 98 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.875-750T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970494 | ||||||
chr1:119970823
|
C | T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.875-1079G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970823 | ||||||
chr1:119970824
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-1080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970824 | ||||||
chr1:119970925
|
C | T | 44 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(41): Show | 45 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.875-1181G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119970925 | ||||||
chr1:119971756
|
G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.875-2012C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119971756 | ||||||
chr1:119971872
|
T | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.875-2128A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119971872 | ||||||
chr1:119972264
|
T | C | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.875-2520A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972264 | ||||||
chr1:119972621
|
A | T | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.875-2877T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972621 | ||||||
chr1:119972661
|
T | C | 17 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(14): Show | 18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.875-2917A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972661 | ||||||
chr1:119972718
|
T | C | 1 | a0001c0004t0004g0113 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.875-2974A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972718 | ||||||
chr1:119972824
|
A | T | 1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.875-3080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972824 | ||||||
chr1:119972931
|
T | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-3187A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119972931 | ||||||
chr1:119973137
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.875-3393A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973137 | ||||||
chr1:119973353
|
CTATGA | C | 60 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(57): Show | 60 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.875-3614_875-3610d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973353 | ||||||
chr1:119973965
|
CAAGTA | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.875-4226_875-4222d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973965 | ||||||
chr1:119973995
|
C | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.875-4251G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119973995 | ||||||
chr1:119974017
|
T | C | 1 | a0002c0009t0002g0028 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.875-4273A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974017 | ||||||
chr1:119974480
|
C | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.875-4736G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974480 | ||||||
chr1:119974894
|
A | G | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.875-5150T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974894 | ||||||
chr1:119974939
|
A | G | 1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.875-5195T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974939 | ||||||
chr1:119974940
|
G | GCTGGCAC others(8): Show |
1 | a0001c0001t0001g0066 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.875-5197_875-5196i others(17): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974940 | ||||||
chr1:119974947
|
G | C | 5 | a0001c0001t0001g0056a0001c0001t0001g0085a0001c0001t0001g0088others(2): Show | 5 | HG01978.hp1 HG02602.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.875-5203C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974947 | ||||||
chr1:119974963
|
C | G | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.875-5219G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119974963 | ||||||
chr1:119975079
|
T | C | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.875-5335A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975079 | ||||||
chr1:119975336
|
G | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-5592C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975336 | ||||||
chr1:119975340
|
G | A | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.875-5596C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975340 | ||||||
chr1:119975578
|
G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-5834C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975578 | ||||||
chr1:119975644
|
C | CA | 9 | a0001c0002t0002g0011a0001c0002t0002g0030a0001c0002t0006g0007others(6): Show | 9 | HG02055.hp2 HG02145.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.875-5901dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | ||||||
chr1:119975644
|
CA | C | 64 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(61): Show |
intron_variant | MODIFIER | c.875-5901delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | ||||||
chr1:119975644
|
CAA | C | 10 | a0001c0001t0001g0066a0001c0003t0003g0146a0001c0003t0003g0147others(7): Show | 10 | HG02055.hp1 HG02280.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.875-5902_875-5901d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | ||||||
chr1:119975644
|
CAAA | C | 19 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0148others(16): Show | 19 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(16): Show |
intron_variant | MODIFIER | c.875-5903_875-5901d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975644 | ||||||
chr1:119975903
|
G | A | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-6159C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975903 | ||||||
chr1:119975917
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.875-6173C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119975917 | ||||||
chr1:119976054
|
A | T | 2 | a0002c0009t0002g0028a0002c0009t0002g0050 | 2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.875-6310T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976054 | ||||||
chr1:119976214
|
C | T | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.875-6470G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976214 | ||||||
chr1:119976376
|
G | A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-6632C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976376 | ||||||
chr1:119976644
|
T | C | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.875-6900A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976644 | ||||||
chr1:119976654
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.875-6910C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976654 | ||||||
chr1:119976931
|
T | C | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.875-7187A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976931 | ||||||
chr1:119976995
|
C | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.875-7251G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119976995 | ||||||
chr1:119977117
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.875-7373G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977117 | ||||||
chr1:119977312
|
G | A | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.875-7568C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977312 | ||||||
chr1:119977313
|
C | A | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.875-7569G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977313 | ||||||
chr1:119977355
|
A | G | 2 | a0001c0001t0001g0107a0001c0013t0001g0108 | 2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.875-7611T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977355 | ||||||
chr1:119977509
|
T | C | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.875-7765A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977509 | ||||||
chr1:119977903
|
G | A | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.875-8159C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119977903 | ||||||
chr1:119978092
|
T | A | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.875-8348A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978092 | ||||||
chr1:119978120
|
C | T | 2 | a0001c0004t0004g0113a0001c0004t0004g0114 | 2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.875-8376G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978120 | ||||||
chr1:119978121
|
G | A | 5 | a0001c0002t0002g0015a0001c0002t0002g0016a0001c0002t0002g0027others(2): Show | 5 | NA18950.hp1 NA18975.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.875-8377C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978121 | ||||||
chr1:119978442
|
T | G | 1 | a0001c0001t0012g0005 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.874+8518A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978442 | ||||||
chr1:119978946
|
T | C | 1 | a0001c0001t0013g0125 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.874+8014A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119978946 | ||||||
chr1:119979055
|
T | A | 2 | a0001c0001t0001g0059a0001c0001t0001g0060 | 2 | HG03710.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.874+7905A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979055 | ||||||
chr1:119979104
|
T | C | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.874+7856A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979104 | ||||||
chr1:119979137
|
T | C | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.874+7823A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979137 | ||||||
chr1:119979717
|
T | C | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.874+7243A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979717 | ||||||
chr1:119979743
|
G | T | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+7217C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979743 | ||||||
chr1:119979745
|
A | C | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.874+7215T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979745 | ||||||
chr1:119979756
|
T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.874+7204A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979756 | ||||||
chr1:119979814
|
TAGTG | T | 14 | a0001c0001t0013g0125a0001c0002t0002g0040a0001c0004t0004g0123others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+7142_874+7145d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119979814 | ||||||
chr1:119980086
|
A | T | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+6874T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980086 | ||||||
chr1:119980141
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+6819G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980141 | ||||||
chr1:119980206
|
T | C | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+6754A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980206 | ||||||
chr1:119980455
|
C | T | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+6505G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980455 | ||||||
chr1:119980488
|
T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.874+6472A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980488 | ||||||
chr1:119980565
|
T | C | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.874+6395A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980565 | ||||||
chr1:119980788
|
A | G | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+6172T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980788 | ||||||
chr1:119980829
|
G | C | 1 | a0001c0001t0001g0101 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.874+6131C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980829 | ||||||
chr1:119980891
|
G | A | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+6069C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119980891 | ||||||
chr1:119981078
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.874+5882C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981078 | ||||||
chr1:119981131
|
C | T | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.874+5829G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981131 | ||||||
chr1:119981187
|
C | CCATCCAT others(15): Show |
2 | a0001c0001t0001g0066a0001c0001t0001g0073 | 2 | HG01109.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.874+5751_874+5772d others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981187 | ||||||
chr1:119981279
|
T | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.874+5681A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981279 | ||||||
chr1:119981708
|
G | A | 2 | a0001c0005t0001g0140a0001c0005t0016g0141 | 2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.874+5252C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981708 | ||||||
chr1:119981753
|
G | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.874+5207C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119981753 | ||||||
chr1:119982040
|
C | T | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.874+4920G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982040 | ||||||
chr1:119982811
|
G | A | 2 | a0002c0009t0002g0028a0002c0009t0002g0050 | 2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.874+4149C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982811 | ||||||
chr1:119982931
|
C | T | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.874+4029G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982931 | ||||||
chr1:119982996
|
C | G | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.874+3964G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119982996 | ||||||
chr1:119983448
|
C | T | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.874+3512G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119983448 | ||||||
chr1:119984232
|
A | C | 1 | a0001c0008t0002g0034 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.874+2728T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984232 | ||||||
chr1:119984274
|
C | A | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.874+2686G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984274 | ||||||
chr1:119984359
|
C | T | 62 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(59): Show | 63 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.874+2601G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984359 | ||||||
chr1:119984880
|
A | G | 157 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(154): Show | 158 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.874+2080T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984880 | ||||||
chr1:119984880
|
A | T | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.874+2080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984880 | ||||||
chr1:119984960
|
G | A | 1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.874+2000C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119984960 | ||||||
chr1:119985485
|
A | T | 4 | a0001c0002t0002g0033a0001c0002t0002g0035a0001c0002t0002g0036others(1): Show | 4 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+1475T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985485 | ||||||
chr1:119985689
|
A | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.874+1271T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985689 | ||||||
chr1:119985857
|
CA | C | 18 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(15): Show | 19 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(16): Show |
intron_variant | MODIFIER | c.874+1102delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985857 | ||||||
chr1:119985945
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.874+1015A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119985945 | ||||||
chr1:119986250
|
A | C | 5 | a0001c0001t0001g0062a0001c0001t0001g0065a0001c0001t0001g0069others(2): Show | 5 | HG02148.hp1 HG02273.hp2 HG02300.hp1 others(2): Show |
intron_variant | MODIFIER | c.874+710T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986250 | ||||||
chr1:119986309
|
G | A | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.874+651C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986309 | ||||||
chr1:119986648
|
G | A | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.874+312C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986648 | ||||||
chr1:119986743
|
T | C | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.874+217A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986743 | ||||||
chr1:119986833
|
C | G | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.874+127G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986833 | ||||||
chr1:119986851
|
T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.874+109A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 5/33 | chr1 | 119986851 | ||||||
chr1:119987127
|
A | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.752-45T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987127 | ||||||
chr1:119987319
|
C | T | 2 | a0001c0003t0003g0144a0001c0003t0003g0146 | 2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.752-237G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987319 | ||||||
chr1:119987340
|
A | G | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.752-258T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119987340 | ||||||
chr1:119988436
|
G | A | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.752-1354C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988436 | ||||||
chr1:119988510
|
T | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.752-1428A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988510 | ||||||
chr1:119988698
|
G | A | 3 | a0001c0001t0001g0056a0001c0001t0001g0099a0001c0001t0001g0136 | 3 | HG01978.hp1 HG02602.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.752-1616C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988698 | ||||||
chr1:119988841
|
G | A | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.752-1759C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988841 | ||||||
chr1:119988999
|
C | T | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.752-1917G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119988999 | ||||||
chr1:119989350
|
G | A | 50 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(47): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.752-2268C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989350 | ||||||
chr1:119989418
|
A | C | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.752-2336T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989418 | ||||||
chr1:119989514
|
T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.752-2432A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989514 | ||||||
chr1:119989586
|
C | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.752-2504G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989586 | ||||||
chr1:119989608
|
T | A | 11 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(8): Show | 11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.752-2526A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989608 | ||||||
chr1:119989653
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.752-2571T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989653 | ||||||
chr1:119989655
|
T | TAGGTA | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-2578_752-2574d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989655 | ||||||
chr1:119989947
|
G | A | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-2865C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119989947 | ||||||
chr1:119990072
|
C | G | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.752-2990G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990072 | ||||||
chr1:119990271
|
G | A | 7 | a0001c0003t0003g0150a0001c0003t0003g0152a0001c0003t0003g0153others(4): Show | 7 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(4): Show |
intron_variant | MODIFIER | c.752-3189C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990271 | ||||||
chr1:119990459
|
G | T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.752-3377C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990459 | ||||||
chr1:119990601
|
T | C | 1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.752-3519A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990601 | ||||||
chr1:119990786
|
G | A | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.752-3704C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990786 | ||||||
chr1:119990918
|
T | C | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.752-3836A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119990918 | ||||||
chr1:119991151
|
G | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.752-4069C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991151 | ||||||
chr1:119991252
|
C | T | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.752-4170G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991252 | ||||||
chr1:119991254
|
T | C | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4172A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991254 | ||||||
chr1:119991298
|
C | G | 166 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(163): Show | 167 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.752-4216G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991298 | ||||||
chr1:119991322
|
G | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.752-4240C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991322 | ||||||
chr1:119991384
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4302G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991384 | ||||||
chr1:119991468
|
T | TC | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.752-4387dupG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991468 | ||||||
chr1:119991752
|
G | A | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.752-4670C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991752 | ||||||
chr1:119991814
|
G | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.752-4732C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991814 | ||||||
chr1:119991820
|
C | T | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.752-4738G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991820 | ||||||
chr1:119991826
|
C | CA | 15 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(12): Show | 15 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.752-4745dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991826 | ||||||
chr1:119991826
|
C | CAA | 8 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(5): Show | 8 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.752-4746_752-4745d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991826 | ||||||
chr1:119991839
|
A | AAAAAG | 18 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(15): Show | 18 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(15): Show |
intron_variant | MODIFIER | c.752-4762_752-4758d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991839 | ||||||
chr1:119991867
|
C | A | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.752-4785G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991867 | ||||||
chr1:119991942
|
A | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.752-4860T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991942 | ||||||
chr1:119991968
|
T | G | 4 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(1): Show | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.752-4886A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119991968 | ||||||
chr1:119992183
|
C | T | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+4814G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992183 | ||||||
chr1:119992304
|
C | G | 11 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(8): Show | 11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.751+4693G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992304 | ||||||
chr1:119992338
|
G | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.751+4659C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992338 | ||||||
chr1:119992511
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.751+4486G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992511 | ||||||
chr1:119992902
|
A | T | 4 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(1): Show | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+4095T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119992902 | ||||||
chr1:119993383
|
C | T | 1 | a0001c0002t0002g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.751+3614G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993383 | ||||||
chr1:119993766
|
A | G | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.751+3231T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993766 | ||||||
chr1:119993807
|
G | A | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.751+3190C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119993807 | ||||||
chr1:119994132
|
A | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.751+2865T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994132 | ||||||
chr1:119994339
|
A | G | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.751+2658T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994339 | ||||||
chr1:119994349
|
C | A | 1 | a0001c0002t0002g0026 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.751+2648G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994349 | ||||||
chr1:119994428
|
T | C | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+2569A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994428 | ||||||
chr1:119994519
|
CAT | C | 21 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0017others(18): Show | 21 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.751+2476_751+2477d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | ||||||
chr1:119994519
|
CATAT | C | 9 | a0001c0002t0002g0011a0001c0002t0002g0031a0001c0002t0002g0037others(6): Show | 9 | HG01081.hp2 HG02451.hp2 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.751+2474_751+2477d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | ||||||
chr1:119994519
|
CATATAT | C | 2 | a0001c0002t0002g0041a0001c0008t0002g0034 | 2 | HG01361.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.751+2472_751+2477d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994519 | ||||||
chr1:119994523
|
T | TAC | 2 | a0001c0002t0002g0016a0001c0002t0002g0024 | 2 | HG02922.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.751+2473_751+2474i others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | ||||||
chr1:119994523
|
TATATATA others(1): Show |
T | 4 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0018others(1): Show | 5 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+2466_751+2473d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | ||||||
chr1:119994523
|
TATATATA others(11): Show |
T | 2 | a0001c0008t0002g0019a0001c0008t0002g0020 | 2 | HG02280.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.751+2456_751+2473d others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994523 | ||||||
chr1:119994525
|
T | C | 7 | a0001c0002t0002g0016a0001c0002t0002g0021a0001c0002t0002g0024others(4): Show | 7 | HG01109.hp1 HG02109.hp1 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.751+2472A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | ||||||
chr1:119994525
|
TATATAC | T | 2 | a0001c0002t0006g0008a0001c0002t0006g0009 | 2 | HG02965.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.751+2466_751+2471d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | ||||||
chr1:119994525
|
TATATACA others(5): Show |
T | 2 | a0001c0002t0015g0051a0001c0004t0004g0119 | 2 | HG02109.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.751+2460_751+2471d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994525 | ||||||
chr1:119994527
|
T | C | 28 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0016others(25): Show | 28 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.751+2470A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | ||||||
chr1:119994527
|
TATAC | T | 5 | a0001c0001t0001g0101a0001c0007t0004g0129a0001c0007t0004g0131others(2): Show | 5 | HG01891.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.751+2466_751+2469d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | ||||||
chr1:119994527
|
TATACAC | T | 8 | a0001c0001t0001g0077a0001c0001t0013g0125a0001c0002t0006g0007others(5): Show | 8 | HG00140.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.751+2464_751+2469d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | ||||||
chr1:119994527
|
TATACACA others(1): Show |
T | 8 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0078others(5): Show | 8 | HG00735.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.751+2462_751+2469d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | ||||||
chr1:119994527
|
TATACACA others(3): Show |
T | 2 | a0001c0001t0001g0091a0001c0003t0003g0148 | 2 | HG01361.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.751+2460_751+2469d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994527 | ||||||
chr1:119994529
|
T | C | 38 | a0001c0002t0002g0011a0001c0002t0002g0014a0001c0002t0002g0015others(35): Show | 38 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.751+2468A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TAC | T | 7 | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0001t0001g0100others(4): Show | 7 | HG02257.hp1 HG02970.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.751+2466_751+2467d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACAC | T | 17 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(14): Show | 17 | HG01109.hp2 HG01243.hp2 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.751+2464_751+2467d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACACAC | T | 2 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | HG01433.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.751+2462_751+2467d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACACACA others(1): Show |
T | 37 | a0001c0001t0001g0056a0001c0001t0001g0070a0001c0001t0001g0072others(34): Show | 37 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.751+2460_751+2467d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACACACA others(3): Show |
T | 19 | a0001c0001t0001g0093a0001c0003t0003g0144a0001c0003t0003g0145others(16): Show | 19 | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(16): Show |
intron_variant | MODIFIER | c.751+2458_751+2467d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACACACA others(5): Show |
T | 8 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(5): Show | 8 | HG02055.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.751+2456_751+2467d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994529
|
TACACACA others(7): Show |
T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.751+2454_751+2467d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994529 | ||||||
chr1:119994535
|
C | T | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.751+2462G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994535 | ||||||
chr1:119994543
|
C | T | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.751+2454G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994543 | ||||||
chr1:119994563
|
CACACACA others(3): Show |
C | 1 | a0001c0006t0001g0053 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.751+2424_751+2433d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994563 | ||||||
chr1:119994678
|
A | G | 1 | a0001c0002t0002g0038 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.751+2319T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994678 | ||||||
chr1:119994707
|
G | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.751+2290C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119994707 | ||||||
chr1:119995710
|
T | C | 1 | a0001c0002t0002g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.751+1287A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119995710 | ||||||
chr1:119996238
|
C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.751+759G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996238 | ||||||
chr1:119996251
|
G | A | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.751+746C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996251 | ||||||
chr1:119996324
|
T | C | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.751+673A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996324 | ||||||
chr1:119996414
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.751+583T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996414 | ||||||
chr1:119996974
|
T | C | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.751+23A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 4/33 | chr1 | 119996974 | ||||||
chr1:119997805
|
C | T | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.416-473G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997805 | ||||||
chr1:119997843
|
G | A | 2 | a0001c0010t0004g0120a0001c0010t0004g0121 | 2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.416-511C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997843 | ||||||
chr1:119997853
|
G | A | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.416-521C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997853 | ||||||
chr1:119997905
|
C | T | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.416-573G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997905 | ||||||
chr1:119997922
|
C | G | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.416-590G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997922 | ||||||
chr1:119997972
|
T | TAA | 4 | a0001c0003t0003g0150a0001c0003t0003g0153a0001c0003t0003g0154others(1): Show | 4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-641_416-640ins others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997972 | ||||||
chr1:119997973
|
C | A | 4 | a0001c0003t0003g0150a0001c0003t0003g0153a0001c0003t0003g0154others(1): Show | 4 | HG00609.hp2 HG02071.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-641G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | ||||||
chr1:119997973
|
C | CA | 24 | a0001c0001t0001g0063a0001c0001t0001g0098a0001c0001t0001g0100others(21): Show | 24 | HG01978.hp1 HG02055.hp1 HG02109.hp2 others(21): Show |
intron_variant | MODIFIER | c.416-642dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | ||||||
chr1:119997973
|
C | CAA | 22 | a0001c0001t0013g0125a0001c0003t0003g0144a0001c0003t0003g0145others(19): Show | 22 | HG01978.hp2 HG02145.hp1 HG02273.hp1 others(19): Show |
intron_variant | MODIFIER | c.416-643_416-642dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119997973 | ||||||
chr1:119998105
|
A | G | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-773T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998105 | ||||||
chr1:119998640
|
A | G | 6 | a0001c0001t0001g0062a0001c0001t0001g0065a0001c0001t0001g0069others(3): Show | 6 | HG02132.hp2 HG02148.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.416-1308T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998640 | ||||||
chr1:119998796
|
C | T | 3 | a0001c0008t0002g0019a0001c0008t0002g0020a0001c0008t0002g0034 | 3 | HG02280.hp2 HG02647.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.416-1464G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119998796 | ||||||
chr1:119999152
|
G | A | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-1820C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999152 | ||||||
chr1:119999210
|
C | T | 27 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(24): Show | 27 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(24): Show |
intron_variant | MODIFIER | c.416-1878G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999210 | ||||||
chr1:119999218
|
C | T | 1 | a0001c0002t0002g0014 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.416-1886G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999218 | ||||||
chr1:119999460
|
GAAGGAAC others(5): Show |
G | 1 | a0001c0002t0002g0027 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.416-2140_416-2129d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999460 | ||||||
chr1:119999873
|
C | A | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.416-2541G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999873 | ||||||
chr1:119999890
|
G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2558C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999890 | ||||||
chr1:119999917
|
G | GAGAA | 2 | a0001c0001t0001g0057a0001c0003t0003g0161 | 2 | HG01433.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.416-2589_416-2586d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
G | GAGAAAGA others(5): Show |
1 | a0001c0001t0001g0069 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.416-2597_416-2586d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
GAGAA | G | 11 | a0001c0001t0001g0062a0001c0001t0001g0065a0001c0001t0001g0066others(8): Show | 11 | HG00609.hp1 HG00738.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.416-2589_416-2586d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
GAGAAAGA others(1): Show |
G | 3 | a0001c0012t0001g0076a0001c0013t0001g0108a0008c0027t0001g0142 | 3 | HG00280.hp2 HG00408.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.416-2593_416-2586d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
GAGAAAGA others(5): Show |
G | 3 | a0001c0001t0001g0080a0001c0001t0019g0167a0006c0017t0001g0079 | 3 | HG03239.hp2 HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.416-2597_416-2586d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
GAGAAAGA others(9): Show |
G | 2 | a0001c0001t0001g0083a0009c0023t0004g0081 | 2 | HG01891.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.416-2601_416-2586d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999917
|
GAGAAAGA others(13): Show |
G | 1 | a0001c0001t0001g0097 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.416-2605_416-2586d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999917 | ||||||
chr1:119999919
|
GAAAGAAA others(3): Show |
G | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.416-2597_416-2588d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999919 | ||||||
chr1:119999921
|
A | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.416-2589T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999921 | ||||||
chr1:119999948
|
AAAGAAAG others(33): Show |
A | 2 | a0001c0004t0004g0127a0001c0021t0004g0122 | 2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.416-2656_416-2617d others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999948 | ||||||
chr1:119999952
|
AAAGAAAG others(29): Show |
A | 2 | a0001c0004t0008g0109a0001c0004t0008g0111 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.416-2656_416-2621d others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999952 | ||||||
chr1:119999956
|
AAAGAAAG others(17): Show |
A | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.416-2648_416-2625d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | ||||||
chr1:119999956
|
AAAGAAAG others(21): Show |
A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2652_416-2625d others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | ||||||
chr1:119999956
|
AAAGAAAG others(25): Show |
A | 4 | a0001c0002t0002g0025a0001c0004t0008g0110a0001c0005t0003g0143others(1): Show | 4 | HG02145.hp2 HG02895.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2656_416-2625d others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999956 | ||||||
chr1:119999960
|
AAAGAAAG others(21): Show |
A | 6 | a0001c0001t0013g0125a0001c0002t0002g0036a0001c0003t0003g0145others(3): Show | 6 | HG02717.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.416-2656_416-2629d others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999960 | ||||||
chr1:119999964
|
AAAGAAAG others(9): Show |
A | 2 | a0001c0001t0001g0102a0001c0002t0002g0047 | 2 | HG01081.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.416-2648_416-2633d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | ||||||
chr1:119999964
|
AAAGAAAG others(13): Show |
A | 2 | a0001c0005t0003g0156a0001c0005t0003g0158 | 2 | HG02055.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.416-2652_416-2633d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | ||||||
chr1:119999964
|
AAAGAAAG others(17): Show |
A | 10 | a0001c0002t0002g0014a0001c0002t0002g0033a0001c0002t0002g0035others(7): Show | 10 | HG00735.hp1 HG01109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.416-2656_416-2633d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999964 | ||||||
chr1:119999968
|
A | G | 1 | a0006c0017t0001g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.416-2636T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | ||||||
chr1:119999968
|
AAAGAAAG others(5): Show |
A | 3 | a0001c0001t0001g0103a0001c0002t0002g0046a0001c0002t0002g0049 | 3 | HG00280.hp1 HG00323.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.416-2648_416-2637d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | ||||||
chr1:119999968
|
AAAGAAAG others(9): Show |
A | 2 | a0001c0002t0002g0029a0001c0005t0016g0141 | 2 | NA18975.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.416-2652_416-2637d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | ||||||
chr1:119999968
|
AAAGAAAG others(13): Show |
A | 18 | a0001c0002t0002g0017a0001c0002t0002g0023a0001c0002t0002g0024others(15): Show | 18 | HG00609.hp2 HG01361.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.416-2656_416-2637d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999968 | ||||||
chr1:119999972
|
A | G | 14 | a0001c0001t0001g0056a0001c0001t0001g0060a0001c0001t0001g0063others(11): Show | 14 | HG00140.hp2 HG01891.hp1 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.416-2640T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | ||||||
chr1:119999972
|
AAAGAAAG others(1): Show |
A | 2 | a0001c0001t0001g0061a0001c0002t0002g0048 | 2 | HG01243.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.416-2648_416-2641d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | ||||||
chr1:119999972
|
AAAGAAAG others(5): Show |
A | 4 | a0001c0002t0002g0015a0001c0002t0002g0044a0001c0003t0003g0160others(1): Show | 4 | HG02818.hp2 HG03471.hp1 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2652_416-2641d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | ||||||
chr1:119999972
|
AAAGAAAG others(9): Show |
A | 15 | a0001c0002t0002g0026a0001c0002t0002g0031a0001c0002t0002g0038others(12): Show | 15 | HG02071.hp2 HG02280.hp2 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.416-2656_416-2641d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999972 | ||||||
chr1:119999976
|
A | AAAGAAAG others(5): Show |
1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.416-2645_416-2644i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
A | AAAGAAAG others(5): Show |
2 | a0001c0001t0001g0059a0001c0001t0001g0078 | 2 | HG00735.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.416-2645_416-2644i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
A | AAAGG | 4 | a0001c0001t0001g0087a0001c0001t0001g0089a0001c0001t0001g0095others(1): Show | 4 | HG01081.hp1 HG01433.hp2 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-2648_416-2645d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
A | G | 29 | a0001c0001t0001g0056a0001c0001t0001g0060a0001c0001t0001g0063others(26): Show | 29 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(26): Show |
intron_variant | MODIFIER | c.416-2644T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
AAAGG | A | 4 | a0001c0001t0012g0005a0001c0002t0002g0040a0001c0002t0015g0051others(1): Show | 4 | HG00140.hp1 HG03490.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.416-2648_416-2645d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
AAAGGAAG others(1): Show |
A | 8 | a0001c0002t0002g0011a0001c0002t0002g0013a0001c0002t0002g0018others(5): Show | 8 | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-2652_416-2645d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
AAAGGAAG others(5): Show |
A | 13 | a0001c0002t0002g0001a0001c0002t0002g0021a0001c0002t0002g0043others(10): Show | 14 | HG01978.hp2 HG02109.hp1 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.416-2656_416-2645d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999976
|
AAAGGAAG others(9): Show |
A | 2 | a0001c0004t0004g0119a0004c0011t0009g0002 | 2 | HG02109.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.416-2660_416-2645d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999976 | ||||||
chr1:119999980
|
G | A | 4 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0092others(1): Show | 4 | HG01433.hp1 HG03486.hp1 HG04184.hp2 others(1): Show |
intron_variant | MODIFIER | c.416-2648C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999980 | ||||||
chr1:119999984
|
G | A | 5 | a0001c0001t0001g0057a0001c0002t0002g0040a0001c0002t0015g0051others(2): Show | 5 | HG01433.hp1 HG03490.hp2 HG04184.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-2652C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999984 | ||||||
chr1:119999988
|
G | A | 8 | a0001c0002t0002g0011a0001c0002t0002g0013a0001c0002t0002g0018others(5): Show | 8 | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-2656C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999988 | ||||||
chr1:119999992
|
G | A | 3 | a0001c0003t0003g0161a0001c0007t0004g0131a0004c0011t0009g0003 | 3 | HG02572.hp1 HG02723.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.416-2660C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999992 | ||||||
chr1:119999996
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-2664C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 119999996 | ||||||
chr1:120000161
|
T | C | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.416-2829A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000161 | ||||||
chr1:120000179
|
A | C | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.416-2847T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000179 | ||||||
chr1:120000188
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2856A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000188 | ||||||
chr1:120000258
|
G | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.416-2926C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000258 | ||||||
chr1:120000314
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-2982A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000314 | ||||||
chr1:120000327
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.416-2995G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000327 | ||||||
chr1:120000490
|
T | C | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.416-3158A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000490 | ||||||
chr1:120000529
|
T | C | 5 | a0001c0005t0003g0139a0001c0005t0003g0156a0001c0005t0003g0157others(2): Show | 5 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-3197A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000529 | ||||||
chr1:120000532
|
C | CA | 52 | a0001c0001t0001g0071a0001c0001t0001g0084a0001c0001t0001g0091others(49): Show | 53 | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.416-3201dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000532 | ||||||
chr1:120000532
|
C | CAA | 7 | a0001c0002t0002g0027a0001c0005t0003g0143a0001c0007t0017g0132others(4): Show | 7 | HG02145.hp2 HG02258.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.416-3202_416-3201d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000532 | ||||||
chr1:120000602
|
CA | C | 5 | a0001c0001t0001g0069a0001c0001t0007g0164a0001c0001t0007g0165others(2): Show | 5 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.416-3271delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000602 | ||||||
chr1:120000726
|
C | T | 2 | a0001c0008t0002g0020a0001c0025t0010g0004 | 2 | HG02258.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.416-3394G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000726 | ||||||
chr1:120000885
|
A | G | 63 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(60): Show | 63 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show |
intron_variant | MODIFIER | c.416-3553T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120000885 | ||||||
chr1:120001059
|
T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-3727A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001059 | ||||||
chr1:120001143
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.416-3811G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001143 | ||||||
chr1:120001284
|
G | A | 1 | a0001c0002t0002g0036 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.416-3952C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001284 | ||||||
chr1:120001287
|
G | A | 12 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0005g0115others(9): Show | 12 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.416-3955C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001287 | ||||||
chr1:120001316
|
T | C | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.416-3984A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001316 | ||||||
chr1:120001327
|
G | C | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.416-3995C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001327 | ||||||
chr1:120001419
|
C | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+3910G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001419 | ||||||
chr1:120001490
|
G | C | 8 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0005g0115others(5): Show | 8 | HG02257.hp2 HG02258.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.415+3839C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001490 | ||||||
chr1:120001567
|
A | G | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.415+3762T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001567 | ||||||
chr1:120001708
|
A | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.415+3621T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001708 | ||||||
chr1:120001710
|
C | G | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+3619G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001710 | ||||||
chr1:120001744
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.415+3585C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001744 | ||||||
chr1:120001777
|
G | T | 1 | a0001c0002t0002g0047 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.415+3552C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120001777 | ||||||
chr1:120002399
|
A | T | 1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.415+2930T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002399 | ||||||
chr1:120002494
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2835T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002494 | ||||||
chr1:120002497
|
T | G | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+2832A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002497 | ||||||
chr1:120002543
|
T | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.415+2786A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002543 | ||||||
chr1:120002579
|
A | C | 1 | a0001c0002t0002g0046 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.415+2750T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002579 | ||||||
chr1:120002599
|
T | C | 1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.415+2730A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002599 | ||||||
chr1:120002690
|
A | G | 1 | a0001c0004t0008g0110 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.415+2639T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002690 | ||||||
chr1:120002825
|
C | T | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.415+2504G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002825 | ||||||
chr1:120002852
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2477A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120002852 | ||||||
chr1:120003183
|
C | T | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.415+2146G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003183 | ||||||
chr1:120003251
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+2078A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003251 | ||||||
chr1:120003308
|
G | A | 20 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(17): Show | 20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.415+2021C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003308 | ||||||
chr1:120003465
|
C | T | 1 | a0002c0009t0002g0028 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.415+1864G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003465 | ||||||
chr1:120003625
|
T | A | 4 | a0001c0001t0007g0164a0001c0001t0007g0165a0001c0001t0007g0166others(1): Show | 4 | HG02071.hp1 NA18964.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.415+1704A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003625 | ||||||
chr1:120003661
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1668G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003661 | ||||||
chr1:120003715
|
C | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1614G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003715 | ||||||
chr1:120003962
|
A | G | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.415+1367T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120003962 | ||||||
chr1:120004127
|
A | G | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.415+1202T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004127 | ||||||
chr1:120004220
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1109C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004220 | ||||||
chr1:120004227
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+1102G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004227 | ||||||
chr1:120004318
|
G | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.415+1011C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004318 | ||||||
chr1:120004335
|
C | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.415+994G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004335 | ||||||
chr1:120004499
|
C | T | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.415+830G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004499 | ||||||
chr1:120004780
|
AT | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.415+548delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004780 | ||||||
chr1:120004795
|
C | T | 1 | a0001c0006t0001g0055 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.415+534G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004795 | ||||||
chr1:120004797
|
G | T | 1 | a0001c0006t0001g0055 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.415+532C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120004797 | ||||||
chr1:120005072
|
A | G | 69 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(66): Show | 70 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.415+257T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120005072 | ||||||
chr1:120005124
|
A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.415+205T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 3/33 | chr1 | 120005124 | ||||||
chr1:120005942
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-354C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005942 | ||||||
chr1:120005974
|
A | C | 1 | a0001c0001t0001g0067 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.156-386T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005974 | ||||||
chr1:120005990
|
T | C | 1 | a0001c0004t0004g0126 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.156-402A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120005990 | ||||||
chr1:120006064
|
G | C | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-476C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006064 | ||||||
chr1:120006343
|
C | T | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.156-755G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006343 | ||||||
chr1:120006662
|
T | C | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.156-1074A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120006662 | ||||||
chr1:120007044
|
C | A | 1 | a0001c0002t0002g0014 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.156-1456G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007044 | ||||||
chr1:120007104
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-1516G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007104 | ||||||
chr1:120007180
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-1592G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007180 | ||||||
chr1:120007379
|
C | A | 2 | a0001c0005t0001g0140a0001c0005t0016g0141 | 2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.156-1791G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007379 | ||||||
chr1:120007438
|
G | T | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.156-1850C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007438 | ||||||
chr1:120007499
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-1911G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007499 | ||||||
chr1:120007583
|
G | A | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.156-1995C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007583 | ||||||
chr1:120007708
|
G | C | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.156-2120C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007708 | ||||||
chr1:120007734
|
TC | T | 2 | a0001c0004t0004g0127a0001c0021t0004g0122 | 2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.156-2147delG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007734 | ||||||
chr1:120007802
|
G | T | 3 | a0001c0001t0001g0063a0001c0001t0001g0100a0009c0023t0004g0081 | 3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.156-2214C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120007802 | ||||||
chr1:120008078
|
C | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-2490G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008078 | ||||||
chr1:120008359
|
C | A | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.156-2771G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008359 | ||||||
chr1:120008556
|
AAC | A | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.156-2970_156-2969d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008556 | ||||||
chr1:120008886
|
G | T | 1 | a0001c0008t0002g0019 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.156-3298C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120008886 | ||||||
chr1:120009047
|
A | G | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.156-3459T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009047 | ||||||
chr1:120009133
|
G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.156-3545C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009133 | ||||||
chr1:120009169
|
T | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.156-3581A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009169 | ||||||
chr1:120009194
|
A | T | 6 | a0001c0002t0002g0044a0001c0002t0002g0045a0001c0002t0002g0046others(3): Show | 6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.156-3606T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009194 | ||||||
chr1:120009218
|
T | C | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.156-3630A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009218 | ||||||
chr1:120009317
|
A | G | 87 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(84): Show | 88 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.156-3729T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009317 | ||||||
chr1:120009592
|
C | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-4004G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009592 | ||||||
chr1:120009674
|
C | A | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.156-4086G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009674 | ||||||
chr1:120009723
|
C | T | 84 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(81): Show | 85 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(82): Show |
intron_variant | MODIFIER | c.156-4135G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120009723 | ||||||
chr1:120010323
|
A | C | 2 | a0001c0003t0003g0160a0001c0025t0010g0004 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.156-4735T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010323 | ||||||
chr1:120010413
|
G | A | 1 | a0001c0006t0001g0052 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.156-4825C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010413 | ||||||
chr1:120010563
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-4975A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010563 | ||||||
chr1:120010676
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-5088G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010676 | ||||||
chr1:120010722
|
C | T | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.156-5134G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010722 | ||||||
chr1:120010771
|
C | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-5183G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010771 | ||||||
chr1:120010813
|
G | C | 1 | a0001c0005t0003g0156 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.156-5225C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010813 | ||||||
chr1:120010970
|
C | T | 1 | a0001c0001t0001g0073 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.156-5382G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120010970 | ||||||
chr1:120011041
|
T | C | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.156-5453A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011041 | ||||||
chr1:120011309
|
T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-5721A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011309 | ||||||
chr1:120011338
|
G | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.156-5750C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011338 | ||||||
chr1:120011373
|
C | T | 60 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(57): Show | 60 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.156-5785G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011373 | ||||||
chr1:120011378
|
C | A | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.156-5790G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011378 | ||||||
chr1:120011425
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-5837A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011425 | ||||||
chr1:120011503
|
A | G | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.156-5915T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011503 | ||||||
chr1:120011511
|
T | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-5923A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011511 | ||||||
chr1:120011518
|
C | A | 1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.156-5930G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011518 | ||||||
chr1:120011608
|
T | C | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-6020A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011608 | ||||||
chr1:120011629
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.156-6041T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011629 | ||||||
chr1:120011701
|
C | T | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.156-6113G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011701 | ||||||
chr1:120011739
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6151C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011739 | ||||||
chr1:120011742
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6154G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011742 | ||||||
chr1:120011748
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.156-6160C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011748 | ||||||
chr1:120011780
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6192T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011780 | ||||||
chr1:120011782
|
C | T | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.156-6194G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011782 | ||||||
chr1:120011876
|
C | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.156-6288G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011876 | ||||||
chr1:120011888
|
C | T | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-6300G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011888 | ||||||
chr1:120011972
|
C | T | 1 | a0001c0021t0004g0122 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.156-6384G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011972 | ||||||
chr1:120011994
|
C | T | 2 | a0001c0001t0001g0107a0001c0013t0001g0108 | 2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.156-6406G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120011994 | ||||||
chr1:120012002
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6414G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012002 | ||||||
chr1:120012015
|
C | CA | 10 | a0001c0001t0001g0063a0001c0001t0001g0080a0001c0001t0001g0095others(7): Show | 10 | HG00735.hp1 HG02145.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.156-6428dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | ||||||
chr1:120012015
|
CA | C | 14 | a0001c0002t0002g0137a0001c0002t0015g0051a0001c0003t0011g0006others(11): Show | 14 | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.156-6428delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | ||||||
chr1:120012015
|
CAA | C | 21 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(18): Show | 21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.156-6429_156-6428d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012015 | ||||||
chr1:120012167
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6579C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012167 | ||||||
chr1:120012264
|
T | C | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.156-6676A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012264 | ||||||
chr1:120012284
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-6696G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012284 | ||||||
chr1:120012507
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-6919C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012507 | ||||||
chr1:120012669
|
C | G | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-7081G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012669 | ||||||
chr1:120012674
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7086A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012674 | ||||||
chr1:120012676
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7088C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012676 | ||||||
chr1:120012760
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7172A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012760 | ||||||
chr1:120012944
|
C | T | 1 | a0001c0008t0002g0034 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.156-7356G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120012944 | ||||||
chr1:120013081
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.156-7493G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013081 | ||||||
chr1:120013099
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7511A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013099 | ||||||
chr1:120013269
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7681T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013269 | ||||||
chr1:120013486
|
A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-7898T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013486 | ||||||
chr1:120013536
|
G | A | 1 | a0001c0002t0002g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.156-7948C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013536 | ||||||
chr1:120013559
|
C | T | 2 | a0002c0009t0002g0028a0002c0009t0002g0050 | 2 | HG02698.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.156-7971G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013559 | ||||||
chr1:120013606
|
T | C | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.156-8018A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013606 | ||||||
chr1:120013903
|
A | C | 2 | a0001c0002t0002g0048a0001c0025t0010g0004 | 2 | HG01243.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.156-8315T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013903 | ||||||
chr1:120013976
|
G | C | 1 | a0001c0002t0002g0014 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.156-8388C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120013976 | ||||||
chr1:120014047
|
T | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.156-8459A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014047 | ||||||
chr1:120014158
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-8570T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014158 | ||||||
chr1:120014257
|
T | C | 5 | a0001c0004t0004g0123a0001c0004t0004g0124a0001c0004t0004g0126others(2): Show | 5 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.156-8669A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014257 | ||||||
chr1:120014303
|
A | C | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.156-8715T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014303 | ||||||
chr1:120014991
|
CT | C | 79 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(76): Show | 79 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(76): Show |
intron_variant | MODIFIER | c.156-9404delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014991 | ||||||
chr1:120014991
|
CTT | C | 66 | a0001c0001t0001g0090a0001c0002t0002g0001a0001c0002t0002g0011others(63): Show | 67 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.156-9405_156-9404d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120014991 | ||||||
chr1:120015009
|
T | A | 2 | a0001c0001t0019g0167a0001c0004t0004g0124 | 2 | HG02622.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.156-9421A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015009 | ||||||
chr1:120015038
|
A | C | 3 | a0001c0001t0001g0099a0001c0003t0003g0160a0001c0019t0001g0086 | 3 | HG02738.hp1 HG02818.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.156-9450T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015038 | ||||||
chr1:120015102
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9514G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015102 | ||||||
chr1:120015159
|
AG | A | 3 | a0001c0001t0013g0125a0001c0010t0004g0120a0001c0010t0004g0121 | 3 | HG02723.hp1 HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.156-9572delC | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015159 | ||||||
chr1:120015232
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9644G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015232 | ||||||
chr1:120015432
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-9844C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015432 | ||||||
chr1:120015446
|
G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-9858C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015446 | ||||||
chr1:120015912
|
A | G | 2 | a0001c0001t0001g0066a0001c0001t0001g0073 | 2 | HG01109.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.156-10324T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015912 | ||||||
chr1:120015942
|
C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.156-10354G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015942 | ||||||
chr1:120015950
|
C | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.156-10362G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015950 | ||||||
chr1:120015954
|
C | CA | 11 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(8): Show | 11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.156-10367dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015954 | ||||||
chr1:120015959
|
A | T | 1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.156-10371T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015959 | ||||||
chr1:120015987
|
T | C | 1 | a0001c0004t0005g0116 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.156-10399A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120015987 | ||||||
chr1:120016018
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-10430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016018 | ||||||
chr1:120016123
|
T | C | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-10535A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016123 | ||||||
chr1:120016175
|
A | G | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.156-10587T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016175 | ||||||
chr1:120016273
|
A | G | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.156-10685T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016273 | ||||||
chr1:120016525
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.156-10937G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016525 | ||||||
chr1:120016652
|
T | C | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.156-11064A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016652 | ||||||
chr1:120016831
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.156-11243C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016831 | ||||||
chr1:120016871
|
T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.156-11283A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120016871 | ||||||
chr1:120017213
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.156-11625G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017213 | ||||||
chr1:120017265
|
T | C | 45 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(42): Show | 46 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.156-11677A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017265 | ||||||
chr1:120017269
|
C | A | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.156-11681G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017269 | ||||||
chr1:120017270
|
A | G | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.156-11682T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017270 | ||||||
chr1:120017319
|
T | C | 46 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(43): Show | 47 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.156-11731A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017319 | ||||||
chr1:120017384
|
T | TA | 2 | a0001c0001t0001g0080a0001c0003t0003g0147 | 2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11797dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017384 | ||||||
chr1:120017523
|
C | A | 2 | a0001c0001t0001g0080a0001c0003t0003g0147 | 2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11935G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017523 | ||||||
chr1:120017533
|
A | G | 2 | a0001c0001t0001g0080a0001c0003t0003g0147 | 2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.156-11945T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017533 | ||||||
chr1:120017696
|
A | G | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.156-12108T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017696 | ||||||
chr1:120017914
|
G | A | 3 | a0001c0001t0001g0080a0001c0003t0003g0147a0001c0025t0010g0004 | 3 | HG02258.hp2 HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11992C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017914 | ||||||
chr1:120017939
|
C | T | 2 | a0001c0001t0001g0080a0001c0003t0003g0147 | 2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11967G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017939 | ||||||
chr1:120017975
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11931C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120017975 | ||||||
chr1:120018025
|
T | A | 2 | a0001c0004t0004g0113a0001c0004t0004g0114 | 2 | HG02572.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.155+11881A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018025 | ||||||
chr1:120018080
|
A | C | 2 | a0001c0001t0001g0080a0001c0003t0003g0147 | 2 | HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11826T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018080 | ||||||
chr1:120018188
|
T | C | 1 | a0001c0002t0002g0038 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.155+11718A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018188 | ||||||
chr1:120018303
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11603C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018303 | ||||||
chr1:120018431
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+11475G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018431 | ||||||
chr1:120018612
|
C | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155+11294G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018612 | ||||||
chr1:120018692
|
T | C | 3 | a0001c0001t0001g0080a0001c0003t0003g0147a0001c0025t0010g0004 | 3 | HG02258.hp2 HG03239.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.155+11214A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018692 | ||||||
chr1:120018917
|
T | G | 2 | a0001c0001t0001g0107a0001c0013t0001g0108 | 2 | HG00408.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.155+10989A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120018917 | ||||||
chr1:120019010
|
C | T | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.155+10896G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019010 | ||||||
chr1:120019351
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10555G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019351 | ||||||
chr1:120019362
|
G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+10544C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019362 | ||||||
chr1:120019408
|
A | ATTTCAAA others(6089): Show |
1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+10497_155+1049 others(6100): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019408 | ||||||
chr1:120019458
|
C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.155+10448G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019458 | ||||||
chr1:120019546
|
A | G | 13 | a0001c0001t0001g0062a0001c0001t0001g0065a0001c0001t0001g0067others(10): Show | 13 | HG02071.hp1 HG02132.hp2 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.155+10360T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019546 | ||||||
chr1:120019652
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10254C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019652 | ||||||
chr1:120019669
|
C | T | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.155+10237G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019669 | ||||||
chr1:120019713
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+10193G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019713 | ||||||
chr1:120019714
|
T | C | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.155+10192A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019714 | ||||||
chr1:120019724
|
G | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+10182C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019724 | ||||||
chr1:120019787
|
T | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.155+10119A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019787 | ||||||
chr1:120019980
|
C | T | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.155+9926G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120019980 | ||||||
chr1:120020062
|
G | C | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.155+9844C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020062 | ||||||
chr1:120020118
|
A | G | 1 | a0011c0026t0007g0163 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155+9788T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020118 | ||||||
chr1:120020182
|
T | C | 7 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(4): Show | 7 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.155+9724A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020182 | ||||||
chr1:120020251
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9655G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020251 | ||||||
chr1:120020591
|
G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9315C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020591 | ||||||
chr1:120020592
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9314C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020592 | ||||||
chr1:120020786
|
G | C | 83 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(80): Show | 84 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(81): Show |
intron_variant | MODIFIER | c.155+9120C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020786 | ||||||
chr1:120020787
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+9119A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020787 | ||||||
chr1:120020907
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8999C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120020907 | ||||||
chr1:120021054
|
A | G | 1 | a0001c0019t0001g0086 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.155+8852T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021054 | ||||||
chr1:120021180
|
G | T | 97 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.155+8726C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021180 | ||||||
chr1:120021196
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8710C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021196 | ||||||
chr1:120021200
|
G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8706C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021200 | ||||||
chr1:120021484
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8422C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021484 | ||||||
chr1:120021746
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+8160G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021746 | ||||||
chr1:120021887
|
A | G | 2 | a0001c0003t0003g0144a0001c0003t0003g0146 | 2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.155+8019T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021887 | ||||||
chr1:120021889
|
G | C | 14 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(11): Show | 14 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.155+8017C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120021889 | ||||||
chr1:120022678
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+7228A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120022678 | ||||||
chr1:120022998
|
G | A | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.155+6908C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120022998 | ||||||
chr1:120023208
|
C | T | 2 | a0001c0004t0004g0123a0001c0004t0004g0124 | 2 | HG02622.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.155+6698G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023208 | ||||||
chr1:120023294
|
G | A | 2 | a0001c0010t0004g0120a0001c0010t0004g0121 | 2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.155+6612C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023294 | ||||||
chr1:120023309
|
C | T | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.155+6597G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023309 | ||||||
chr1:120023355
|
A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6551T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023355 | ||||||
chr1:120023361
|
C | T | 3 | a0001c0005t0001g0140a0001c0005t0016g0141a0009c0023t0004g0081 | 3 | HG01884.hp1 HG01891.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.155+6545G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023361 | ||||||
chr1:120023368
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6538G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023368 | ||||||
chr1:120023376
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6530T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023376 | ||||||
chr1:120023415
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6491G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023415 | ||||||
chr1:120023570
|
T | G | 98 | a0001c0001t0001g0083a0001c0001t0013g0125a0001c0002t0002g0001others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.155+6336A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023570 | ||||||
chr1:120023596
|
T | C | 4 | a0001c0005t0003g0156a0001c0005t0003g0157a0001c0005t0003g0158others(1): Show | 4 | HG02055.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.155+6310A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023596 | ||||||
chr1:120023639
|
C | A | 1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.155+6267G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023639 | ||||||
chr1:120023755
|
T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6151A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023755 | ||||||
chr1:120023826
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+6080T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023826 | ||||||
chr1:120023927
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+5979G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023927 | ||||||
chr1:120023943
|
T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+5963A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120023943 | ||||||
chr1:120024042
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+5864C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024042 | ||||||
chr1:120024346
|
C | T | 166 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(163): Show | 167 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.155+5560G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024346 | ||||||
chr1:120024535
|
T | A | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.155+5371A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024535 | ||||||
chr1:120024540
|
C | T | 2 | a0001c0005t0001g0140a0001c0005t0016g0141 | 2 | HG01884.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.155+5366G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024540 | ||||||
chr1:120024646
|
TATA | T | 17 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(14): Show | 18 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(15): Show |
intron_variant | MODIFIER | c.155+5257_155+5259d others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024646 | ||||||
chr1:120024879
|
A | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+5027T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024879 | ||||||
chr1:120024941
|
T | C | 1 | a0008c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.155+4965A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024941 | ||||||
chr1:120024947
|
G | A | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+4959C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024947 | ||||||
chr1:120024969
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4937T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120024969 | ||||||
chr1:120025004
|
GT | G | 7 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111others(4): Show | 7 | HG00738.hp1 HG01081.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.155+4901delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025004 | ||||||
chr1:120025178
|
G | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+4728C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025178 | ||||||
chr1:120025290
|
A | G | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.155+4616T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025290 | ||||||
chr1:120025381
|
A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4525T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025381 | ||||||
chr1:120025421
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4485T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025421 | ||||||
chr1:120025423
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+4483G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025423 | ||||||
chr1:120025428
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155+4478G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025428 | ||||||
chr1:120025601
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155+4305C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025601 | ||||||
chr1:120025654
|
C | T | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.155+4252G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025654 | ||||||
chr1:120025987
|
A | G | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.155+3919T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120025987 | ||||||
chr1:120026331
|
T | C | 1 | a0001c0003t0003g0147 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.155+3575A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026331 | ||||||
chr1:120026344
|
T | C | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+3562A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026344 | ||||||
chr1:120026513
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+3393A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026513 | ||||||
chr1:120026950
|
C | CT | 6 | a0001c0001t0019g0167a0001c0004t0005g0116a0001c0005t0003g0143others(3): Show | 6 | HG00408.hp1 HG02145.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.155+2955dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026950 | ||||||
chr1:120026950
|
C | CTT | 16 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(13): Show | 16 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.155+2954_155+2955d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120026950 | ||||||
chr1:120027017
|
T | C | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.155+2889A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027017 | ||||||
chr1:120027023
|
C | T | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.155+2883G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027023 | ||||||
chr1:120027024
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2882A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027024 | ||||||
chr1:120027037
|
C | T | 1 | a0001c0002t0002g0046 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155+2869G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027037 | ||||||
chr1:120027076
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2830G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027076 | ||||||
chr1:120027118
|
AT | A | 3 | a0001c0001t0001g0107a0001c0013t0001g0108a0001c0025t0010g0004 | 3 | HG00408.hp2 HG02258.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.155+2787delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027118 | ||||||
chr1:120027123
|
T | C | 4 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117others(1): Show | 4 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.155+2783A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027123 | ||||||
chr1:120027140
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2766C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027140 | ||||||
chr1:120027147
|
T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2759A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027147 | ||||||
chr1:120027228
|
T | C | 3 | a0001c0007t0004g0129a0001c0007t0004g0131a0010c0024t0004g0128 | 3 | HG02572.hp1 HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.155+2678A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027228 | ||||||
chr1:120027468
|
T | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.155+2438A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027468 | ||||||
chr1:120027544
|
G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155+2362C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027544 | ||||||
chr1:120027756
|
T | C | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.155+2150A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027756 | ||||||
chr1:120027757
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2149C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027757 | ||||||
chr1:120027782
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2124G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027782 | ||||||
chr1:120027825
|
T | C | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.155+2081A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027825 | ||||||
chr1:120027831
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2075C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027831 | ||||||
chr1:120027839
|
A | G | 50 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(47): Show | 51 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(48): Show |
intron_variant | MODIFIER | c.155+2067T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027839 | ||||||
chr1:120027874
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+2032G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027874 | ||||||
chr1:120027887
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.155+2019A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120027887 | ||||||
chr1:120028325
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1581T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028325 | ||||||
chr1:120028441
|
G | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1465C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028441 | ||||||
chr1:120028617
|
A | G | 5 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0018others(2): Show | 6 | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.155+1289T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028617 | ||||||
chr1:120028762
|
C | T | 18 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(15): Show | 19 | HG00735.hp1 HG01361.hp1 HG02698.hp1 others(16): Show |
intron_variant | MODIFIER | c.155+1144G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028762 | ||||||
chr1:120028774
|
C | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+1132G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028774 | ||||||
chr1:120028893
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+1013T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028893 | ||||||
chr1:120028938
|
G | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.155+968C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028938 | ||||||
chr1:120028959
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+947T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120028959 | ||||||
chr1:120029041
|
C | G | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.155+865G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029041 | ||||||
chr1:120029247
|
G | A | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.155+659C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029247 | ||||||
chr1:120029351
|
T | A | 6 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0095others(3): Show | 6 | HG00408.hp1 HG00609.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.155+555A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029351 | ||||||
chr1:120029373
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+533A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029373 | ||||||
chr1:120029417
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+489C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029417 | ||||||
chr1:120029456
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+450G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029456 | ||||||
chr1:120029476
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.155+430C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029476 | ||||||
chr1:120029856
|
T | C | 2 | a0001c0004t0005g0115a0001c0004t0005g0116 | 2 | HG02257.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.155+50A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 2/33 | chr1 | 120029856 | ||||||
chr1:120030044
|
A | G | 5 | a0001c0002t0002g0015a0001c0002t0002g0016a0001c0002t0002g0027others(2): Show | 5 | NA18950.hp1 NA18975.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.74-57T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030044 | ||||||
chr1:120030292
|
A | C | 2 | a0001c0001t0007g0164a0001c0001t0007g0166 | 2 | NA18991.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.74-305T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030292 | ||||||
chr1:120030551
|
A | C | 1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.74-564T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120030551 | ||||||
chr1:120031085
|
T | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-1098A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031085 | ||||||
chr1:120031150
|
C | T | 3 | a0001c0001t0001g0063a0001c0001t0001g0100a0009c0023t0004g0081 | 3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-1163G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031150 | ||||||
chr1:120031303
|
A | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-1316T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031303 | ||||||
chr1:120031322
|
T | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-1335A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031322 | ||||||
chr1:120031559
|
C | G | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-1572G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031559 | ||||||
chr1:120031581
|
C | T | 3 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0002t0002g0011 | 3 | HG02976.hp1 HG03453.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.74-1594G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031581 | ||||||
chr1:120031743
|
C | G | 2 | a0001c0006t0001g0053a0001c0006t0001g0054 | 2 | HG00738.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.74-1756G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031743 | ||||||
chr1:120031820
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-1833A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031820 | ||||||
chr1:120031962
|
C | A | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.74-1975G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120031962 | ||||||
chr1:120032232
|
C | T | 47 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0014others(44): Show | 48 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(45): Show |
intron_variant | MODIFIER | c.74-2245G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032232 | ||||||
chr1:120032248
|
G | A | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.74-2261C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032248 | ||||||
chr1:120032272
|
G | A | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.74-2285C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032272 | ||||||
chr1:120032383
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.74-2396G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032383 | ||||||
chr1:120032444
|
A | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-2457T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032444 | ||||||
chr1:120032445
|
T | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.74-2458A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032445 | ||||||
chr1:120032620
|
C | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-2633G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032620 | ||||||
chr1:120032690
|
C | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-2703G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032690 | ||||||
chr1:120032747
|
C | T | 3 | a0001c0001t0001g0063a0001c0001t0001g0100a0009c0023t0004g0081 | 3 | HG01891.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-2760G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032747 | ||||||
chr1:120032806
|
C | T | 5 | a0001c0002t0002g0035a0001c0007t0004g0129a0001c0007t0004g0130others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-2819G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032806 | ||||||
chr1:120032950
|
C | T | 1 | a0001c0001t0001g0107 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.74-2963G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032950 | ||||||
chr1:120032993
|
A | G | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-3006T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120032993 | ||||||
chr1:120033161
|
C | T | 1 | a0001c0002t0002g0025 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.74-3174G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033161 | ||||||
chr1:120033196
|
T | C | 161 | a0001c0001t0001g0056a0001c0001t0001g0059a0001c0001t0001g0060others(158): Show | 162 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.74-3209A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033196 | ||||||
chr1:120033410
|
C | CA | 14 | a0001c0001t0001g0057a0001c0001t0001g0099a0001c0001t0007g0166others(11): Show | 14 | HG01433.hp1 HG01891.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-3424dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAA | 7 | a0001c0001t0001g0058a0001c0001t0001g0063a0001c0001t0001g0100others(4): Show | 7 | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.74-3425_74-3424dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAAAA | 8 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0152others(5): Show | 8 | HG02145.hp2 HG02698.hp1 HG03704.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-3427_74-3424dup others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAAAAA | 17 | a0001c0002t0002g0001a0001c0002t0002g0013a0001c0002t0002g0014others(14): Show | 18 | HG00735.hp1 HG01978.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.74-3428_74-3424dup others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAAAAAA | 27 | a0001c0002t0002g0011a0001c0002t0002g0017a0001c0002t0002g0025others(24): Show | 27 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.74-3429_74-3424dup others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAAAAAAA | 7 | a0001c0002t0002g0027a0001c0002t0002g0029a0001c0002t0002g0030others(4): Show | 7 | HG01081.hp2 HG01361.hp1 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-3430_74-3424dup others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
C | CAAAAAAA others(3): Show |
2 | a0001c0002t0002g0023a0001c0002t0002g0024 | 2 | HG01884.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.74-3433_74-3424dup others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
CA | C | 47 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(44): Show | 47 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.74-3424delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
CAAA | C | 5 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(2): Show | 5 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-3426_74-3424del others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033410
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0056 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.74-3436_74-3424del others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033410 | ||||||
chr1:120033777
|
TAA | T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-3792_74-3791del others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033777 | ||||||
chr1:120033829
|
A | C | 1 | a0001c0002t0002g0038 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.74-3842T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033829 | ||||||
chr1:120033878
|
T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-3891A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033878 | ||||||
chr1:120033895
|
T | C | 1 | a0001c0010t0004g0120 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.74-3908A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120033895 | ||||||
chr1:120034071
|
A | G | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.74-4084T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034071 | ||||||
chr1:120034264
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4277A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034264 | ||||||
chr1:120034335
|
C | CA | 31 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(28): Show | 31 | HG01243.hp2 HG01891.hp2 HG02071.hp1 others(28): Show |
intron_variant | MODIFIER | c.74-4349dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | ||||||
chr1:120034335
|
C | CAAAAAAA others(3): Show |
1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4358_74-4349dup others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | ||||||
chr1:120034335
|
CA | C | 64 | a0001c0001t0001g0084a0001c0002t0002g0001a0001c0002t0002g0011others(61): Show | 65 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.74-4349delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034335 | ||||||
chr1:120034403
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4416G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034403 | ||||||
chr1:120034447
|
A | T | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-4460T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034447 | ||||||
chr1:120034660
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-4673A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034660 | ||||||
chr1:120034689
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-4702T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034689 | ||||||
chr1:120034897
|
A | G | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-4910T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120034897 | ||||||
chr1:120035033
|
A | G | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-5046T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035033 | ||||||
chr1:120035373
|
T | G | 7 | a0001c0003t0003g0150a0001c0003t0003g0152a0001c0003t0003g0153others(4): Show | 7 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-5386A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035373 | ||||||
chr1:120035385
|
G | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0096a0001c0005t0003g0156others(3): Show | 6 | HG01433.hp2 HG02055.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.74-5398C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035385 | ||||||
chr1:120035455
|
T | G | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.74-5468A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035455 | ||||||
chr1:120035491
|
A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5504T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035491 | ||||||
chr1:120035493
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-5506A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035493 | ||||||
chr1:120035737
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5750A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035737 | ||||||
chr1:120035768
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-5781C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120035768 | ||||||
chr1:120036041
|
G | A | 1 | a0001c0008t0002g0020 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.74-6054C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036041 | ||||||
chr1:120036440
|
T | A | 7 | a0001c0001t0001g0056a0001c0001t0001g0085a0001c0001t0001g0088others(4): Show | 7 | HG00140.hp1 HG01978.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-6453A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036440 | ||||||
chr1:120036862
|
T | A | 1 | a0001c0002t0002g0040 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.74-6875A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120036862 | ||||||
chr1:120037012
|
A | G | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-7025T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037012 | ||||||
chr1:120037062
|
T | G | 1 | a0001c0004t0004g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.74-7075A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037062 | ||||||
chr1:120037084
|
A | G | 1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.74-7097T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037084 | ||||||
chr1:120037175
|
CGGAAGGT others(69): Show |
C | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-7264_74-7189del others(76): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037175 | ||||||
chr1:120037252
|
T | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-7265A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037252 | ||||||
chr1:120037261
|
T | C | 12 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(9): Show | 12 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.74-7274A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037261 | ||||||
chr1:120037552
|
GA | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-7566delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037552 | ||||||
chr1:120037622
|
C | T | 7 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0085others(4): Show | 7 | HG01433.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-7635G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037622 | ||||||
chr1:120037938
|
T | C | 5 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0101others(2): Show | 5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-7951A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037938 | ||||||
chr1:120037951
|
C | G | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-7964G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120037951 | ||||||
chr1:120038659
|
CT | C | 2 | a0001c0004t0004g0127a0001c0021t0004g0122 | 2 | HG01891.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.74-8673delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038659 | ||||||
chr1:120038662
|
A | T | 97 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.74-8675T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038662 | ||||||
chr1:120038708
|
C | T | 1 | a0001c0007t0004g0130 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.74-8721G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038708 | ||||||
chr1:120038760
|
T | C | 1 | a0001c0001t0001g0095 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.74-8773A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038760 | ||||||
chr1:120038893
|
C | T | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.74-8906G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038893 | ||||||
chr1:120038915
|
G | C | 1 | a0001c0001t0001g0083 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.74-8928C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120038915 | ||||||
chr1:120039047
|
T | TC | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-9061dupG | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039047 | ||||||
chr1:120039409
|
C | CT | 19 | a0001c0001t0001g0106a0001c0001t0007g0164a0001c0001t0013g0125others(16): Show | 19 | HG01361.hp1 HG01891.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.74-9423dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039409 | ||||||
chr1:120039678
|
G | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-9691C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039678 | ||||||
chr1:120039728
|
T | C | 1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.74-9741A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039728 | ||||||
chr1:120039826
|
C | T | 1 | a0001c0002t0006g0008 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.74-9839G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120039826 | ||||||
chr1:120040141
|
T | C | 23 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(20): Show | 23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-10154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040141 | ||||||
chr1:120040243
|
G | C | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.74-10256C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040243 | ||||||
chr1:120040266
|
T | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-10279A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040266 | ||||||
chr1:120040756
|
G | A | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-10769C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040756 | ||||||
chr1:120040794
|
T | C | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-10807A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040794 | ||||||
chr1:120040829
|
A | C | 8 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0005g0115others(5): Show | 8 | HG02257.hp2 HG02258.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-10842T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040829 | ||||||
chr1:120040879
|
T | C | 1 | a0001c0002t0002g0049 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.74-10892A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040879 | ||||||
chr1:120040973
|
G | A | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.74-10986C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120040973 | ||||||
chr1:120041041
|
C | CA | 14 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(11): Show | 14 | HG00140.hp2 HG00735.hp2 HG01978.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-11055dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041041 | ||||||
chr1:120041055
|
A | AATATATA others(23): Show |
1 | a0001c0003t0003g0160 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(32): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041055
|
A | AATATATA others(25): Show |
4 | a0001c0003t0003g0145a0001c0003t0003g0153a0001c0003t0003g0154others(1): Show | 4 | HG04184.hp2 NA18983.hp1 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-11069_74-11068i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041055
|
A | AATATATA others(27): Show |
3 | a0001c0003t0003g0146a0001c0003t0003g0147a0001c0003t0003g0150 | 3 | HG02071.hp2 HG03831.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.74-11069_74-11068i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041055
|
A | AATATATA others(31): Show |
1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(40): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041055
|
A | AATATATA others(33): Show |
1 | a0001c0003t0003g0151 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.74-11069_74-11068i others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041055
|
A | AATATATA others(37): Show |
1 | a0001c0003t0003g0144 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.74-11069_74-11068i others(46): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041055 | ||||||
chr1:120041057
|
A | AATATATA others(25): Show |
1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | ||||||
chr1:120041057
|
A | AATATATA others(27): Show |
1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | ||||||
chr1:120041057
|
A | ATATATAT others(6): Show |
1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | ||||||
chr1:120041057
|
A | ATATATAT others(20): Show |
1 | a0001c0003t0011g0006 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.74-11071_74-11070i others(29): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | ||||||
chr1:120041057
|
A | T | 14 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(11): Show | 14 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-11070T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041057 | ||||||
chr1:120041059
|
A | AATATATA others(13): Show |
1 | a0001c0005t0003g0159 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.74-11073_74-11072i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | ||||||
chr1:120041059
|
A | AATATATA others(17): Show |
1 | a0001c0005t0003g0156 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.74-11073_74-11072i others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | ||||||
chr1:120041059
|
A | AATATATA others(29): Show |
1 | a0001c0005t0003g0158 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.74-11073_74-11072i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | ||||||
chr1:120041059
|
A | C | 1 | a0001c0003t0003g0147 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.74-11072T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | ||||||
chr1:120041059
|
A | T | 17 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(14): Show | 17 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.74-11072T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041059 | ||||||
chr1:120041061
|
A | AATATATA others(19): Show |
1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-11075_74-11074i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041061 | ||||||
chr1:120041061
|
A | T | 21 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(18): Show | 21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-11074T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041061 | ||||||
chr1:120041062
|
A | ATATATAT others(25): Show |
1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.74-11076_74-11075i others(34): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041062 | ||||||
chr1:120041063
|
A | AATATATA others(11): Show |
4 | a0001c0002t0002g0023a0001c0002t0002g0024a0001c0002t0002g0025others(1): Show | 4 | HG01884.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.74-11077_74-11076i others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | ||||||
chr1:120041063
|
A | AATATATA others(13): Show |
1 | a0007c0014t0002g0022 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.74-11077_74-11076i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | ||||||
chr1:120041063
|
A | T | 23 | a0001c0002t0015g0051a0001c0003t0003g0144a0001c0003t0003g0145others(20): Show | 23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-11076T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041063 | ||||||
chr1:120041065
|
A | AATATATA others(13): Show |
1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.74-11079_74-11078i others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | ||||||
chr1:120041065
|
A | ATATATAT others(12): Show |
1 | a0001c0002t0006g0009 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.74-11079_74-11078i others(21): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | ||||||
chr1:120041065
|
A | ATATATAT others(14): Show |
2 | a0001c0002t0006g0007a0001c0002t0006g0008 | 2 | HG02965.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.74-11079_74-11078i others(23): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | ||||||
chr1:120041065
|
A | ATATATAT others(20): Show |
1 | a0001c0002t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.74-11079_74-11078i others(29): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | ||||||
chr1:120041065
|
A | T | 30 | a0001c0002t0002g0023a0001c0002t0002g0024a0001c0002t0002g0025others(27): Show | 30 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(27): Show |
intron_variant | MODIFIER | c.74-11078T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041065 | ||||||
chr1:120041067
|
A | ATAT | 3 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117 | 3 | HG02257.hp2 HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.74-11081_74-11080i others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | ||||||
chr1:120041067
|
A | ATATAT | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.74-11081_74-11080i others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | ||||||
chr1:120041067
|
A | C | 2 | a0001c0003t0003g0153a0001c0003t0003g0154 | 2 | NA18983.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.74-11080T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | ||||||
chr1:120041067
|
A | T | 35 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(32): Show | 35 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(32): Show |
intron_variant | MODIFIER | c.74-11080T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041067 | ||||||
chr1:120041069
|
A | AATATATA others(7): Show |
2 | a0001c0007t0004g0129a0010c0024t0004g0128 | 2 | HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | AATATATA others(19): Show |
2 | a0001c0002t0002g0046a0001c0002t0002g0049 | 2 | HG00280.hp1 HG00323.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | AATATATA others(21): Show |
1 | a0001c0002t0002g0001 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | AATATATA others(23): Show |
1 | a0001c0002t0002g0047 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(32): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | AATATATA others(27): Show |
2 | a0001c0002t0002g0018a0002c0009t0002g0028 | 2 | HG02698.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(36): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | AT | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG02976.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | ATAT | 3 | a0001c0004t0008g0110a0001c0004t0008g0111a0001c0004t0018g0135 | 3 | HG02809.hp1 HG02895.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.74-11083_74-11082i others(5): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | ATATATAT others(14): Show |
1 | a0001c0008t0002g0020 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.74-11083_74-11082i others(23): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | ATATATAT others(24): Show |
1 | a0001c0002t0002g0029 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(33): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | ATATATAT others(44): Show |
1 | a0002c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.74-11083_74-11082i others(53): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041069
|
A | T | 47 | a0001c0001t0001g0101a0001c0002t0002g0017a0001c0002t0002g0021others(44): Show | 47 | HG00609.hp2 HG01884.hp2 HG01978.hp2 others(44): Show |
intron_variant | MODIFIER | c.74-11082T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041069 | ||||||
chr1:120041071
|
A | AAAAATAT others(6): Show |
1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAAATAT others(10): Show |
1 | a0001c0021t0004g0122 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(19): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAAATAT others(18): Show |
1 | a0001c0002t0002g0030 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAATATA others(5): Show |
3 | a0001c0004t0004g0126a0001c0007t0017g0132a0001c0010t0004g0120 | 3 | HG02145.hp1 HG02818.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAATATA others(7): Show |
1 | a0001c0007t0004g0130 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAATATA others(11): Show |
1 | a0001c0004t0004g0127 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAAATATA others(15): Show |
1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(24): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(6): Show |
3 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124 | 3 | HG02622.hp2 HG02647.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(16): Show |
3 | a0001c0002t0002g0033a0001c0002t0002g0036a0001c0002t0002g0038 | 3 | HG02559.hp1 HG02717.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(25): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(18): Show |
1 | a0001c0002t0002g0032 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(27): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(24): Show |
2 | a0001c0002t0002g0035a0001c0008t0002g0019 | 2 | HG02280.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(33): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(26): Show |
1 | a0001c0002t0002g0015 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(35): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(28): Show |
2 | a0001c0002t0002g0011a0001c0002t0002g0042 | 2 | HG03927.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(37): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(30): Show |
1 | a0003c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(39): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AAATATAT others(32): Show |
1 | a0001c0002t0002g0043 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(41): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AATATATA others(5): Show |
1 | a0001c0010t0004g0121 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.74-11096_74-11085d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AATATATA others(19): Show |
1 | a0001c0002t0002g0016 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(28): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AATATATA others(21): Show |
1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(30): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AATATATA others(29): Show |
1 | a0001c0002t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | AT | 2 | a0001c0001t0001g0091a0001c0006t0001g0052 | 2 | HG01361.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(3): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | ATATATAT others(4): Show |
1 | a0001c0002t0014g0138 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | ATATATAT others(22): Show |
1 | a0001c0008t0002g0034 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(31): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | ATATATAT others(26): Show |
3 | a0001c0002t0002g0014a0001c0002t0002g0027a0001c0002t0002g0040 | 3 | HG00735.hp1 NA19011.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.74-11085_74-11084i others(35): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | ATATATAT others(30): Show |
1 | a0001c0002t0002g0041 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.74-11085_74-11084i others(39): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | ATATATAT others(34): Show |
1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-11085_74-11084i others(43): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | C | 2 | a0001c0003t0003g0148a0001c0003t0003g0149 | 2 | HG01978.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.74-11084T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041071
|
A | T | 73 | a0001c0001t0001g0083a0001c0001t0001g0096a0001c0001t0001g0101others(70): Show | 74 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.74-11084T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041071 | ||||||
chr1:120041073
|
T | A | 4 | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0095others(1): Show | 4 | HG00408.hp1 HG00609.hp1 NA18949.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-11086A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041073 | ||||||
chr1:120041073
|
T | C | 1 | a0001c0005t0003g0157 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.74-11086A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041073 | ||||||
chr1:120041077
|
T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-11090A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041077 | ||||||
chr1:120041079
|
T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-11092A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041079 | ||||||
chr1:120041082
|
A | ATATATAT others(33): Show |
1 | a0001c0003t0003g0148 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.74-11096_74-11095i others(42): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041082 | ||||||
chr1:120041082
|
A | ATATATAT others(29): Show |
1 | a0001c0003t0003g0149 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.74-11096_74-11095i others(38): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041082 | ||||||
chr1:120041133
|
T | C | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-11146A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041133 | ||||||
chr1:120041151
|
G | A | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.74-11164C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041151 | ||||||
chr1:120041360
|
T | G | 1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-11373A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041360 | ||||||
chr1:120041444
|
C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-11457G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041444 | ||||||
chr1:120041773
|
G | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-11786C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041773 | ||||||
chr1:120041838
|
A | AAGAGAG | 70 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(67): Show | 71 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.74-11857_74-11852d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041838 | ||||||
chr1:120041955
|
AGAAAG | A | 2 | a0001c0001t0001g0084a0001c0002t0006g0010 | 2 | HG02630.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.74-11973_74-11969d others(7): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041955 | ||||||
chr1:120041987
|
GA | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-12001delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120041987 | ||||||
chr1:120042206
|
T | A | 1 | a0001c0001t0001g0090 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.74-12219A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042206 | ||||||
chr1:120042210
|
A | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-12223T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042210 | ||||||
chr1:120042412
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.74-12425A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042412 | ||||||
chr1:120042449
|
G | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-12462C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042449 | ||||||
chr1:120042536
|
G | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.74-12549C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042536 | ||||||
chr1:120042617
|
T | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.74-12630A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042617 | ||||||
chr1:120042638
|
G | A | 106 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0063others(103): Show | 107 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.74-12651C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042638 | ||||||
chr1:120042988
|
C | T | 1 | a0001c0001t0001g0075 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.74-13001G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120042988 | ||||||
chr1:120043200
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-13213A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043200 | ||||||
chr1:120043217
|
G | C | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.74-13230C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043217 | ||||||
chr1:120043445
|
G | A | 1 | a0001c0003t0003g0152 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.74-13458C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043445 | ||||||
chr1:120043568
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-13581T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043568 | ||||||
chr1:120043625
|
C | T | 23 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(20): Show | 23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.74-13638G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043625 | ||||||
chr1:120043768
|
T | C | 1 | a0008c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.74-13781A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043768 | ||||||
chr1:120043863
|
GA | G | 50 | a0001c0001t0013g0125a0001c0003t0003g0144a0001c0003t0003g0145others(47): Show | 50 | HG00609.hp2 HG01891.hp2 HG01978.hp2 others(47): Show |
intron_variant | MODIFIER | c.74-13877delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043863 | ||||||
chr1:120043937
|
C | T | 1 | a0003c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.74-13950G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043937 | ||||||
chr1:120043939
|
T | C | 1 | a0001c0001t0001g0071 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.74-13952A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120043939 | ||||||
chr1:120044083
|
T | C | 1 | a0001c0022t0005g0112 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-14096A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044083 | ||||||
chr1:120044179
|
A | G | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-14192T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044179 | ||||||
chr1:120044311
|
G | C | 21 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(18): Show | 21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-14324C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044311 | ||||||
chr1:120044354
|
T | G | 1 | a0001c0001t0001g0136 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.74-14367A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044354 | ||||||
chr1:120044364
|
C | T | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-14377G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044364 | ||||||
chr1:120044368
|
C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.74-14381G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044368 | ||||||
chr1:120044491
|
G | C | 1 | a0001c0005t0003g0162 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.74-14504C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120044491 | ||||||
chr1:120045359
|
C | T | 5 | a0001c0002t0002g0032a0001c0002t0002g0033a0001c0002t0002g0035others(2): Show | 5 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.74-15372G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045359 | ||||||
chr1:120045409
|
G | A | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-15422C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045409 | ||||||
chr1:120045470
|
TA | T | 92 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0063others(89): Show | 93 | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(90): Show |
intron_variant | MODIFIER | c.74-15484delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045470 | ||||||
chr1:120045470
|
TAA | T | 14 | a0001c0002t0002g0049a0001c0004t0004g0113a0001c0004t0004g0114others(11): Show | 14 | HG00323.hp2 HG02109.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-15485_74-15484d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045470 | ||||||
chr1:120045488
|
A | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-15501T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045488 | ||||||
chr1:120045840
|
C | A | 1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-15853G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045840 | ||||||
chr1:120045894
|
T | C | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.74-15907A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045894 | ||||||
chr1:120045983
|
A | G | 1 | a0001c0016t0001g0082 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.74-15996T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120045983 | ||||||
chr1:120046035
|
T | C | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.74-16048A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046035 | ||||||
chr1:120046079
|
G | T | 1 | a0001c0001t0001g0096 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.74-16092C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046079 | ||||||
chr1:120046139
|
T | C | 21 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(18): Show | 21 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.74-16152A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046139 | ||||||
chr1:120046910
|
C | T | 2 | a0001c0005t0003g0139a0001c0025t0010g0004 | 2 | HG02258.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.74-16923G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120046910 | ||||||
chr1:120047042
|
T | C | 20 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(17): Show | 20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.74-17055A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047042 | ||||||
chr1:120047046
|
C | T | 1 | a0002c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.74-17059G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047046 | ||||||
chr1:120047577
|
G | A | 1 | a0001c0002t0006g0010 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.74-17590C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047577 | ||||||
chr1:120047639
|
G | A | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.74-17652C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047639 | ||||||
chr1:120047683
|
C | CA | 8 | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0099others(5): Show | 8 | HG00408.hp1 HG00609.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.74-17697dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047683 | ||||||
chr1:120047765
|
G | GT | 60 | a0001c0001t0001g0073a0001c0001t0001g0084a0001c0001t0013g0125others(57): Show | 61 | HG00408.hp1 HG01109.hp1 HG01109.hp2 others(58): Show |
intron_variant | MODIFIER | c.74-17779dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047765 | ||||||
chr1:120047765
|
G | GTT | 5 | a0001c0002t0002g0014a0001c0002t0002g0027a0001c0002t0002g0037others(2): Show | 5 | HG00735.hp1 HG01361.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-17780_74-17779d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047765 | ||||||
chr1:120047816
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.74-17829C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047816 | ||||||
chr1:120047826
|
G | A | 7 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(4): Show | 7 | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-17839C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047826 | ||||||
chr1:120047858
|
A | C | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.74-17871T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047858 | ||||||
chr1:120047919
|
C | T | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-17932G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120047919 | ||||||
chr1:120048013
|
G | A | 1 | a0001c0003t0003g0155 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.74-18026C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048013 | ||||||
chr1:120048087
|
A | G | 1 | a0001c0001t0001g0075 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.74-18100T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048087 | ||||||
chr1:120048088
|
A | G | 7 | a0001c0002t0002g0017a0001c0002t0002g0021a0001c0002t0002g0023others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-18101T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048088 | ||||||
chr1:120048207
|
T | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-18220A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048207 | ||||||
chr1:120048305
|
T | C | 1 | a0001c0001t0007g0166 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.74-18318A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048305 | ||||||
chr1:120048328
|
G | C | 1 | a0001c0002t0002g0032 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.74-18341C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048328 | ||||||
chr1:120048378
|
G | T | 72 | a0001c0001t0001g0093a0001c0002t0002g0001a0001c0002t0002g0011others(69): Show | 73 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.74-18391C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048378 | ||||||
chr1:120048387
|
A | C | 1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-18400T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048387 | ||||||
chr1:120048400
|
A | G | 2 | a0001c0001t0001g0093a0001c0025t0010g0004 | 2 | HG00609.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.74-18413T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048400 | ||||||
chr1:120048421
|
G | T | 72 | a0001c0001t0001g0093a0001c0002t0002g0001a0001c0002t0002g0011others(69): Show | 73 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.74-18434C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048421 | ||||||
chr1:120048445
|
C | CT | 6 | a0001c0001t0001g0084a0001c0001t0001g0099a0001c0001t0001g0104others(3): Show | 6 | HG02559.hp2 HG02738.hp1 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.74-18459dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
C | CTTTT | 19 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0147others(16): Show | 19 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.74-18462_74-18459d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
C | CTTTTTTT others(3): Show |
27 | a0001c0002t0002g0016a0001c0002t0002g0021a0001c0002t0002g0023others(24): Show | 27 | HG01884.hp2 HG02055.hp2 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.74-18459_74-18458i others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
C | CTTTTTTT others(4): Show |
19 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(16): Show | 20 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.74-18459_74-18458i others(13): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
C | CTTTTTTT others(5): Show |
1 | a0001c0002t0002g0045 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.74-18459_74-18458i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
C | CTTTTTTT others(3): Show |
1 | a0001c0002t0002g0017 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.74-18468_74-18459d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048445
|
CT | C | 29 | a0001c0001t0001g0058a0001c0001t0001g0088a0001c0001t0001g0102others(26): Show | 29 | HG01891.hp2 HG02145.hp1 HG02258.hp1 others(26): Show |
intron_variant | MODIFIER | c.74-18459delA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048445 | ||||||
chr1:120048452
|
T | TTGTTTTT others(6): Show |
1 | a0001c0001t0001g0093 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.74-18466_74-18465i others(15): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048452 | ||||||
chr1:120048455
|
T | G | 3 | a0001c0004t0008g0109a0001c0004t0008g0110a0001c0004t0008g0111 | 3 | HG02895.hp1 HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.74-18468A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048455 | ||||||
chr1:120048629
|
G | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.74-18642C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048629 | ||||||
chr1:120048868
|
T | A | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.74-18881A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048868 | ||||||
chr1:120048946
|
A | G | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.74-18959T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120048946 | ||||||
chr1:120049133
|
C | T | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.74-19146G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049133 | ||||||
chr1:120049245
|
C | T | 1 | a0001c0001t0001g0061 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.74-19258G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049245 | ||||||
chr1:120049246
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19259C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049246 | ||||||
chr1:120049291
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19304A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049291 | ||||||
chr1:120049302
|
T | C | 1 | a0001c0001t0001g0072 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.74-19315A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049302 | ||||||
chr1:120049411
|
G | T | 1 | a0001c0013t0001g0108 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.74-19424C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049411 | ||||||
chr1:120049644
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.74-19657G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049644 | ||||||
chr1:120049714
|
C | G | 1 | a0001c0001t0001g0080 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.73+19620G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049714 | ||||||
chr1:120049771
|
A | T | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+19563T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049771 | ||||||
chr1:120049772
|
T | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+19562A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049772 | ||||||
chr1:120049827
|
A | AT | 4 | a0001c0002t0002g0033a0001c0002t0002g0035a0001c0002t0002g0036others(1): Show | 4 | HG02559.hp1 HG02717.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+19506dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049827 | ||||||
chr1:120049976
|
C | G | 1 | a0001c0012t0001g0076 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.73+19358G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120049976 | ||||||
chr1:120050071
|
G | A | 2 | a0001c0001t0001g0089a0001c0001t0001g0134 | 2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+19263C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050071 | ||||||
chr1:120050104
|
T | C | 2 | a0001c0001t0001g0089a0001c0001t0001g0134 | 2 | NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+19230A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050104 | ||||||
chr1:120050184
|
A | G | 1 | a0006c0017t0001g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.73+19150T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050184 | ||||||
chr1:120050231
|
G | A | 3 | a0001c0003t0003g0153a0001c0003t0003g0154a0001c0003t0003g0155 | 3 | HG00609.hp2 NA18983.hp1 NA19054.hp1 |
intron_variant | MODIFIER | c.73+19103C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050231 | ||||||
chr1:120050256
|
C | G | 1 | a0001c0007t0004g0131 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.73+19078G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050256 | ||||||
chr1:120050302
|
C | T | 1 | a0009c0023t0004g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.73+19032G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050302 | ||||||
chr1:120050993
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+18341G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120050993 | ||||||
chr1:120051180
|
T | C | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.73+18154A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051180 | ||||||
chr1:120051228
|
A | AAC | 26 | a0001c0001t0001g0056a0001c0001t0001g0062a0001c0001t0001g0064others(23): Show | 26 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(23): Show |
intron_variant | MODIFIER | c.73+18104_73+18105d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
A | AACAC | 10 | a0001c0001t0001g0061a0001c0001t0001g0080a0001c0001t0001g0093others(7): Show | 10 | HG00609.hp1 HG01243.hp2 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.73+18102_73+18105d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
A | AACACAC | 8 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0092others(5): Show | 8 | HG00738.hp1 HG01081.hp1 HG02273.hp2 others(5): Show |
intron_variant | MODIFIER | c.73+18100_73+18105d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AAC | A | 3 | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0089 | 3 | HG01433.hp1 HG03710.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.73+18104_73+18105d others(4): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACAC | A | 5 | a0001c0001t0001g0058a0001c0001t0001g0090a0001c0003t0003g0160others(2): Show | 5 | HG00323.hp1 HG02145.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+18102_73+18105d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACACAC | A | 7 | a0001c0001t0001g0101a0001c0003t0003g0147a0001c0003t0003g0148others(4): Show | 7 | HG01978.hp2 HG02273.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.73+18100_73+18105d others(8): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACACACA others(1): Show |
A | 5 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0005t0003g0156others(2): Show | 5 | HG02055.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+18098_73+18105d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACACACA others(3): Show |
A | 8 | a0001c0003t0003g0150a0001c0003t0003g0151a0001c0003t0003g0152others(5): Show | 8 | HG00609.hp2 HG02071.hp2 HG02300.hp2 others(5): Show |
intron_variant | MODIFIER | c.73+18096_73+18105d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACACACA others(7): Show |
A | 11 | a0001c0001t0013g0125a0001c0003t0003g0145a0001c0004t0004g0123others(8): Show | 11 | HG02145.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.73+18092_73+18105d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051228
|
AACACACA others(9): Show |
A | 12 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(9): Show | 12 | HG01891.hp2 HG02109.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.73+18090_73+18105d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051228 | ||||||
chr1:120051251
|
ACACACAC others(17): Show |
A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+18059_73+18082d others(26): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051251 | ||||||
chr1:120051255
|
ACACACAC others(13): Show |
A | 1 | a0001c0002t0002g0039 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.73+18059_73+18078d others(22): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051255 | ||||||
chr1:120051257
|
A | ACACACAC others(5): Show |
2 | a0001c0003t0003g0144a0001c0003t0003g0146 | 2 | HG03704.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.73+18076_73+18077i others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051257 | ||||||
chr1:120051257
|
ACACACAC others(11): Show |
A | 1 | a0001c0002t0002g0038 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.73+18059_73+18076d others(20): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051257 | ||||||
chr1:120051259
|
ACACACAC others(9): Show |
A | 5 | a0001c0002t0002g0035a0001c0002t0002g0036a0001c0002t0002g0037others(2): Show | 5 | HG02717.hp2 HG03471.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.73+18059_73+18074d others(18): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051259 | ||||||
chr1:120051261
|
ACACACAC others(7): Show |
A | 4 | a0001c0002t0002g0011a0001c0002t0002g0033a0001c0002t0014g0138others(1): Show | 4 | HG02559.hp1 HG02647.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+18059_73+18072d others(16): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051261 | ||||||
chr1:120051263
|
ACACACAC others(5): Show |
A | 24 | a0001c0002t0002g0001a0001c0002t0002g0017a0001c0002t0002g0018others(21): Show | 25 | HG00323.hp2 HG01109.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.73+18059_73+18070d others(14): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051263 | ||||||
chr1:120051265
|
ACACACAC others(3): Show |
A | 8 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0016others(5): Show | 8 | HG00735.hp1 HG01081.hp2 HG01361.hp1 others(5): Show |
intron_variant | MODIFIER | c.73+18059_73+18068d others(12): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051265 | ||||||
chr1:120051267
|
ACACACAC others(1): Show |
A | 4 | a0001c0002t0002g0013a0001c0002t0002g0045a0001c0002t0002g0046others(1): Show | 4 | HG00280.hp1 HG00738.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+18059_73+18066d others(10): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051267 | ||||||
chr1:120051273
|
A | G | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.73+18061T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051273 | ||||||
chr1:120051449
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.73+17885C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051449 | ||||||
chr1:120051526
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17808C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051526 | ||||||
chr1:120051654
|
T | C | 1 | a0001c0001t0001g0075 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.73+17680A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051654 | ||||||
chr1:120051787
|
A | G | 5 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0077others(2): Show | 5 | HG00140.hp2 HG00735.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+17547T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051787 | ||||||
chr1:120051859
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17475A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051859 | ||||||
chr1:120051946
|
G | A | 2 | a0001c0002t0002g0137a0001c0002t0014g0138 | 2 | HG01109.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.73+17388C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120051946 | ||||||
chr1:120052239
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.73+17095T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052239 | ||||||
chr1:120052254
|
G | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+17080C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052254 | ||||||
chr1:120052274
|
C | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+17060G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052274 | ||||||
chr1:120052606
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+16728C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120052606 | ||||||
chr1:120053124
|
G | A | 2 | a0001c0012t0001g0076a0001c0025t0010g0004 | 2 | HG02258.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.73+16210C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053124 | ||||||
chr1:120053207
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+16127G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053207 | ||||||
chr1:120053271
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+16063C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053271 | ||||||
chr1:120053320
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.73+16014C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053320 | ||||||
chr1:120053331
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.73+16003G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053331 | ||||||
chr1:120053352
|
T | A | 148 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(145): Show | 149 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.73+15982A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053352 | ||||||
chr1:120053561
|
C | T | 2 | a0001c0001t0001g0063a0001c0001t0001g0100 | 2 | HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.73+15773G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053561 | ||||||
chr1:120053628
|
T | C | 7 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0095others(4): Show | 7 | HG00408.hp1 HG00609.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.73+15706A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053628 | ||||||
chr1:120053637
|
T | C | 1 | a0001c0001t0001g0098 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.73+15697A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053637 | ||||||
chr1:120053693
|
A | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+15641T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053693 | ||||||
chr1:120053785
|
T | C | 1 | a0001c0002t0002g0040 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.73+15549A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053785 | ||||||
chr1:120053838
|
G | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+15496C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120053838 | ||||||
chr1:120054166
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+15168T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054166 | ||||||
chr1:120054203
|
T | C | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+15131A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054203 | ||||||
chr1:120054245
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.73+15089C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054245 | ||||||
chr1:120054395
|
T | C | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+14939A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054395 | ||||||
chr1:120054474
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14860C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054474 | ||||||
chr1:120054492
|
TAATA | T | 4 | a0001c0002t0006g0007a0001c0002t0006g0008a0001c0002t0006g0009others(1): Show | 4 | HG02630.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+14838_73+14841d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054492 | ||||||
chr1:120054608
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14726A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054608 | ||||||
chr1:120054684
|
C | T | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.73+14650G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120054684 | ||||||
chr1:120055030
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+14304A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055030 | ||||||
chr1:120055339
|
C | A | 1 | a0001c0001t0001g0099 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.73+13995G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055339 | ||||||
chr1:120055446
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13888C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055446 | ||||||
chr1:120055835
|
T | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13499A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055835 | ||||||
chr1:120055875
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13459C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055875 | ||||||
chr1:120055918
|
G | T | 14 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(11): Show | 14 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.73+13416C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120055918 | ||||||
chr1:120056033
|
T | G | 2 | a0001c0003t0003g0160a0001c0025t0010g0004 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.73+13301A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056033 | ||||||
chr1:120056324
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+13010C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056324 | ||||||
chr1:120056501
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12833G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056501 | ||||||
chr1:120056561
|
C | A | 1 | a0001c0001t0001g0100 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.73+12773G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056561 | ||||||
chr1:120056563
|
T | C | 43 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(40): Show | 44 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.73+12771A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056563 | ||||||
chr1:120056813
|
G | C | 5 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0101others(2): Show | 5 | HG01433.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.73+12521C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120056813 | ||||||
chr1:120057062
|
T | C | 103 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0101others(100): Show | 104 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.73+12272A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057062 | ||||||
chr1:120057160
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12174T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057160 | ||||||
chr1:120057183
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+12151G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057183 | ||||||
chr1:120057403
|
T | G | 1 | a0001c0001t0001g0104 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.73+11931A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057403 | ||||||
chr1:120057419
|
T | C | 97 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.73+11915A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057419 | ||||||
chr1:120057676
|
TCTTA | T | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+11654_73+11657d others(6): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057676 | ||||||
chr1:120057720
|
C | G | 1 | a0011c0026t0007g0163 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.73+11614G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057720 | ||||||
chr1:120057740
|
C | T | 97 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(94): Show | 98 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.73+11594G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120057740 | ||||||
chr1:120058156
|
T | C | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11178A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058156 | ||||||
chr1:120058162
|
C | T | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11172G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058162 | ||||||
chr1:120058241
|
C | T | 4 | a0001c0007t0004g0129a0001c0007t0004g0130a0001c0007t0004g0131others(1): Show | 4 | HG02280.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+11093G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058241 | ||||||
chr1:120058278
|
C | T | 46 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(43): Show | 47 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.73+11056G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058278 | ||||||
chr1:120058279
|
G | A | 1 | a0001c0002t0002g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.73+11055C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058279 | ||||||
chr1:120058296
|
G | A | 1 | a0008c0027t0001g0142 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.73+11038C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058296 | ||||||
chr1:120058430
|
G | A | 6 | a0001c0002t0002g0044a0001c0002t0002g0045a0001c0002t0002g0046others(3): Show | 6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.73+10904C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058430 | ||||||
chr1:120058454
|
A | G | 23 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(20): Show | 23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+10880T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058454 | ||||||
chr1:120058665
|
T | C | 37 | a0001c0001t0013g0125a0001c0002t0002g0137a0001c0003t0003g0144others(34): Show | 37 | HG00609.hp2 HG01109.hp1 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.73+10669A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058665 | ||||||
chr1:120058700
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.73+10634C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058700 | ||||||
chr1:120058756
|
T | C | 3 | a0001c0004t0004g0113a0001c0004t0004g0114a0003c0020t0004g0118 | 3 | HG02572.hp2 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.73+10578A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058756 | ||||||
chr1:120058804
|
T | C | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+10530A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058804 | ||||||
chr1:120058820
|
G | T | 24 | a0001c0002t0002g0137a0001c0003t0003g0144a0001c0003t0003g0145others(21): Show | 24 | HG00609.hp2 HG01109.hp1 HG01978.hp2 others(21): Show |
intron_variant | MODIFIER | c.73+10514C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058820 | ||||||
chr1:120058992
|
A | G | 23 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(20): Show | 23 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+10342T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120058992 | ||||||
chr1:120059165
|
TA | T | 6 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0007t0004g0129others(3): Show | 6 | HG01243.hp2 HG02280.hp1 HG02300.hp1 others(3): Show |
intron_variant | MODIFIER | c.73+10168delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059165 | ||||||
chr1:120059282
|
C | G | 2 | a0001c0001t0001g0059a0001c0001t0001g0060 | 2 | HG03710.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.73+10052G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059282 | ||||||
chr1:120059595
|
C | T | 1 | a0001c0002t0002g0011 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.73+9739G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059595 | ||||||
chr1:120059759
|
T | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+9575A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120059759 | ||||||
chr1:120060089
|
C | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.73+9245G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060089 | ||||||
chr1:120060450
|
A | AAT | 12 | a0001c0004t0004g0113a0001c0004t0004g0114a0001c0004t0004g0119others(9): Show | 12 | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.73+8882_73+8883dup others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060450 | ||||||
chr1:120060450
|
AAT | A | 17 | a0001c0003t0003g0144a0001c0003t0003g0146a0001c0003t0003g0147others(14): Show | 17 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(14): Show |
intron_variant | MODIFIER | c.73+8882_73+8883del others(2): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060450 | ||||||
chr1:120060452
|
T | A | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8882A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060452 | ||||||
chr1:120060472
|
A | T | 25 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0013g0125others(22): Show | 25 | HG00738.hp2 HG01433.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.73+8862T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060472 | ||||||
chr1:120060485
|
A | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8849T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060485 | ||||||
chr1:120060540
|
G | C | 1 | a0001c0001t0001g0105 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.73+8794C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060540 | ||||||
chr1:120060612
|
T | C | 2 | a0001c0005t0003g0143a0001c0005t0003g0162 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.73+8722A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060612 | ||||||
chr1:120060761
|
T | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+8573A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060761 | ||||||
chr1:120060815
|
C | T | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+8519G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060815 | ||||||
chr1:120060934
|
A | C | 1 | a0001c0004t0008g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.73+8400T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120060934 | ||||||
chr1:120061141
|
T | C | 3 | a0001c0004t0005g0115a0001c0004t0005g0116a0001c0004t0005g0117 | 3 | HG02257.hp2 HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.73+8193A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061141 | ||||||
chr1:120061398
|
C | T | 1 | a0001c0004t0004g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.73+7936G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061398 | ||||||
chr1:120061411
|
G | C | 15 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(12): Show | 15 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+7923C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061411 | ||||||
chr1:120061424
|
T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+7910A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061424 | ||||||
chr1:120061589
|
A | G | 1 | a0001c0002t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.73+7745T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061589 | ||||||
chr1:120061601
|
T | A | 1 | a0001c0007t0017g0132 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.73+7733A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061601 | ||||||
chr1:120061639
|
C | T | 1 | a0003c0015t0002g0012 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.73+7695G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061639 | ||||||
chr1:120061786
|
G | A | 1 | a0003c0020t0004g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.73+7548C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120061786 | ||||||
chr1:120062250
|
C | T | 2 | a0001c0001t0001g0056a0001c0005t0003g0156 | 2 | HG02055.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.73+7084G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062250 | ||||||
chr1:120062325
|
G | A | 1 | a0001c0002t0015g0051 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.73+7009C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062325 | ||||||
chr1:120062381
|
GA | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+6952delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062381 | ||||||
chr1:120062495
|
C | T | 16 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(13): Show | 16 | HG00609.hp2 HG01978.hp2 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.73+6839G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062495 | ||||||
chr1:120062670
|
G | T | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.73+6664C>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120062670 | ||||||
chr1:120063007
|
G | C | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.73+6327C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063007 | ||||||
chr1:120063062
|
C | T | 3 | a0001c0002t0002g0011a0001c0002t0002g0042a0001c0002t0002g0043 | 3 | HG03927.hp2 HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.73+6272G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063062 | ||||||
chr1:120063473
|
A | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+5861T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063473 | ||||||
chr1:120063968
|
T | C | 2 | a0001c0003t0003g0160a0001c0025t0010g0004 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.73+5366A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120063968 | ||||||
chr1:120064024
|
A | G | 23 | a0001c0001t0013g0125a0001c0002t0006g0010a0001c0004t0004g0113others(20): Show | 23 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.73+5310T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064024 | ||||||
chr1:120064396
|
A | C | 4 | a0001c0006t0001g0052a0001c0006t0001g0053a0001c0006t0001g0054others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+4938T>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064396 | ||||||
chr1:120064707
|
T | C | 71 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(68): Show | 72 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
intron_variant | MODIFIER | c.73+4627A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064707 | ||||||
chr1:120064751
|
C | CA | 6 | a0001c0004t0004g0119a0001c0007t0004g0129a0001c0007t0004g0130others(3): Show | 6 | HG02109.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.73+4582dupT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064751 | ||||||
chr1:120064751
|
CA | C | 69 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(66): Show | 70 | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(67): Show |
intron_variant | MODIFIER | c.73+4582delT | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064751 | ||||||
chr1:120064830
|
A | G | 2 | a0001c0010t0004g0120a0001c0010t0004g0121 | 2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.73+4504T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064830 | ||||||
chr1:120064852
|
A | T | 22 | a0001c0001t0013g0125a0001c0004t0004g0113a0001c0004t0004g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+4482T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064852 | ||||||
chr1:120064903
|
C | T | 1 | a0001c0003t0003g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.73+4431G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120064903 | ||||||
chr1:120065183
|
A | G | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+4151T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065183 | ||||||
chr1:120065328
|
A | G | 11 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(8): Show | 11 | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.73+4006T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065328 | ||||||
chr1:120065398
|
C | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3936G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065398 | ||||||
chr1:120065461
|
G | A | 20 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(17): Show | 20 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.73+3873C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065461 | ||||||
chr1:120065498
|
A | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3836T>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065498 | ||||||
chr1:120065545
|
T | C | 3 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0013t0001g0108 | 3 | HG00408.hp2 NA18975.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.73+3789A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065545 | ||||||
chr1:120065599
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+3735C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065599 | ||||||
chr1:120065709
|
C | T | 50 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(47): Show | 51 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.73+3625G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065709 | ||||||
chr1:120065808
|
G | A | 22 | a0001c0003t0003g0144a0001c0003t0003g0145a0001c0003t0003g0146others(19): Show | 22 | HG00609.hp2 HG01978.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.73+3526C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065808 | ||||||
chr1:120065830
|
A | G | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+3504T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120065830 | ||||||
chr1:120066058
|
G | A | 2 | a0001c0002t0002g0042a0001c0002t0002g0043 | 2 | HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.73+3276C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066058 | ||||||
chr1:120066130
|
T | C | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+3204A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066130 | ||||||
chr1:120066220
|
T | C | 1 | a0001c0003t0003g0161 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.73+3114A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066220 | ||||||
chr1:120066332
|
C | T | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+3002G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066332 | ||||||
chr1:120066439
|
G | GT | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+2894dupA | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120066439 | ||||||
chr1:120067097
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2237C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067097 | ||||||
chr1:120067146
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2188G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067146 | ||||||
chr1:120067149
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+2185G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067149 | ||||||
chr1:120067188
|
T | G | 13 | a0001c0001t0013g0125a0001c0004t0004g0123a0001c0004t0004g0124others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.73+2146A>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067188 | ||||||
chr1:120067235
|
G | A | 98 | a0001c0001t0013g0125a0001c0002t0002g0001a0001c0002t0002g0011others(95): Show | 99 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.73+2099C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067235 | ||||||
chr1:120067241
|
C | CA | 51 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(48): Show | 52 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.73+2092_73+2093ins others(1): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067241 | ||||||
chr1:120067242
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.73+2092C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067242 | ||||||
chr1:120067246
|
T | C | 48 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(45): Show | 49 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(46): Show |
intron_variant | MODIFIER | c.73+2088A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067246 | ||||||
chr1:120067389
|
C | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+1945G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067389 | ||||||
chr1:120067870
|
G | A | 6 | a0001c0002t0002g0044a0001c0002t0002g0045a0001c0002t0002g0046others(3): Show | 6 | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.73+1464C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067870 | ||||||
chr1:120067974
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.73+1360C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120067974 | ||||||
chr1:120068028
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1306C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068028 | ||||||
chr1:120068100
|
G | C | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1234C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068100 | ||||||
chr1:120068136
|
C | G | 1 | a0001c0005t0003g0143 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.73+1198G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068136 | ||||||
chr1:120068264
|
T | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+1070A>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068264 | ||||||
chr1:120068310
|
C | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+1024G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068310 | ||||||
chr1:120068435
|
C | A | 1 | a0001c0004t0018g0135 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.73+899G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068435 | ||||||
chr1:120068573
|
T | C | 1 | a0001c0001t0001g0136 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.73+761A>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068573 | ||||||
chr1:120068640
|
C | T | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+694G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068640 | ||||||
chr1:120068751
|
G | A | 1 | a0001c0025t0010g0004 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.73+583C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068751 | ||||||
chr1:120068760
|
G | A | 1 | a0002c0009t0002g0050 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.73+574C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068760 | ||||||
chr1:120068882
|
C | A | 69 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(66): Show | 70 | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.73+452G>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068882 | ||||||
chr1:120068884
|
G | C | 5 | a0001c0002t0015g0051a0001c0005t0003g0139a0001c0025t0010g0004others(2): Show | 5 | HG02258.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.73+450C>G | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068884 | ||||||
chr1:120068996
|
C | G | 1 | a0001c0005t0003g0139 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.73+338G>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120068996 | ||||||
chr1:120069101
|
A | G | 49 | a0001c0002t0002g0001a0001c0002t0002g0011a0001c0002t0002g0013others(46): Show | 50 | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.73+233T>C | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069101 | ||||||
chr1:120069144
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+190C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069144 | ||||||
chr1:120069216
|
G | A | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+118C>T | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069216 | ||||||
chr1:120069262
|
C | T | 2 | a0004c0011t0009g0002a0004c0011t0009g0003 | 2 | HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.73+72G>A | NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | 120069262 |