| geneid | 79712 |
|---|---|
| ensemblid | ENSG00000121964.15 |
| hgncid | 20887 |
| symbol | GTDC1 |
| name | glycosyltransferase like domain containing 1 |
| refseq_nuc | NM_001376312.2 |
| refseq_prot | NP_001363241.1 |
| ensembl_nuc | ENST00000682281.1 |
| ensembl_prot | ENSP00000507713.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 143938068 |
| end | 144332512 |
| strand | - |
| ver | v1.2 |
| region | chr2:143938068-144332512 |
| region5000 | chr2:143933068-144337512 |
| regionname0 | GTDC1_chr2_143938068_144332512 |
| regionname5000 | GTDC1_chr2_143933068_144337512 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 458 | 84 | 32 | 11 | 25 | 3 | 13 | 16 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002 | 1/1 | 458 | 28 | 11 | 3 | 5 | 3 | 4 | 4 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003 | 0/0 | 458 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0004 | 0/0 | 458 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0005 | 0/0 | 458 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0006 | 0/0 | 458 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0007 | 0/0 | 458 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0008 | 0/0 | 458 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0009 | 0/0 | 458 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0010 | 0/0 | 458 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1377 | 77 | 26 | 10 | 25 | 3 | 13 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0002 | 1/1 | 1377 | 26 | 9 | 3 | 5 | 3 | 4 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0003 | 0/0 | 1377 | 6 | 5 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0004 | 0/0 | 1377 | 3 | 3 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0005 | 0/0 | 1377 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0006 | 0/0 | 1377 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0007 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0008 | 0/0 | 1377 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0009 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0010 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0011 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0012 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0013 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| c0014 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 9209 | 35 | 14 | 3 | 8 | 1 | 9 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0002 | 0/0 | 9208 | 12 | 2 | 1 | 6 | 2 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0003 | 0/0 | 9208 | 7 | 7 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0004 | 0/0 | 9207 | 4 | 1 | 0 | 3 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0005 | 0/0 | 9210 | 4 | 3 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0006 | 0/0 | 9209 | 4 | 0 | 2 | 0 | 1 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0007 | 0/0 | 9198 | 4 | 0 | 2 | 0 | 0 | 2 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0008 | 0/0 | 9214 | 4 | 4 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0009 | 0/0 | 9209 | 3 | 3 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0010 | 0/0 | 9209 | 3 | 0 | 0 | 3 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0011 | 0/0 | 9199 | 3 | 0 | 1 | 2 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0012 | 0/0 | 9208 | 2 | 0 | 0 | 0 | 0 | 2 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0013 | 0/0 | 9208 | 2 | 1 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0014 | 0/0 | 9209 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0015 | 0/0 | 9211 | 2 | 0 | 1 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0016 | 0/0 | 9198 | 2 | 0 | 1 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0017 | 0/0 | 9198 | 2 | 0 | 0 | 2 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0018 | 0/0 | 9208 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0019 | 0/0 | 9208 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0020 | 0/0 | 9198 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0021 | 0/0 | 9198 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0022 | 1/0 | 9209 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0023 | 0/0 | 9209 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0024 | 0/0 | 9208 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0025 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0026 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0027 | 0/0 | 9209 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0028 | 0/0 | 9198 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0029 | 0/0 | 9209 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0030 | 0/1 | 9208 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0031 | 0/0 | 9209 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0032 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0033 | 0/0 | 9210 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0034 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0035 | 0/0 | 9209 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0036 | 0/0 | 9208 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0037 | 0/0 | 9210 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0038 | 0/0 | 9208 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0039 | 0/0 | 9210 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0040 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0041 | 0/0 | 9209 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0042 | 0/0 | 9198 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0043 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0044 | 0/0 | 9210 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0045 | 0/0 | 9209 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| t0046 | 0/0 | 9214 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0068 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1377 | 77 | 26 | 10 | 25 | 3 | 13 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003 | 0/0 | 1377 | 6 | 5 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0014 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002 | 1/1 | 1377 | 26 | 9 | 3 | 5 | 3 | 4 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0005 | 0/0 | 1377 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003c0004 | 0/0 | 1377 | 3 | 3 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003c0010 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0004c0006 | 0/0 | 1377 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0005c0012 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0006c0013 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0007c0009 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0008c0011 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0009c0008 | 0/0 | 1377 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0010c0007 | 0/0 | 1377 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 10585 | 23 | 7 | 3 | 7 | 0 | 6 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0002 | 0/0 | 10584 | 10 | 0 | 1 | 6 | 2 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0003 | 0/0 | 10584 | 3 | 3 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0004 | 0/0 | 10583 | 4 | 1 | 0 | 3 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0005 | 0/0 | 10586 | 2 | 1 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0007 | 0/0 | 10574 | 4 | 0 | 2 | 0 | 0 | 2 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0008 | 0/0 | 10590 | 4 | 4 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0009 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0011 | 0/0 | 10575 | 2 | 0 | 0 | 2 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0012 | 0/0 | 10584 | 2 | 0 | 0 | 0 | 0 | 2 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0013 | 0/0 | 10584 | 2 | 1 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0015 | 0/0 | 10587 | 2 | 0 | 1 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0016 | 0/0 | 10574 | 2 | 0 | 1 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0017 | 0/0 | 10574 | 2 | 0 | 0 | 2 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0019 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0020 | 0/0 | 10574 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0023 | 0/0 | 10585 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0024 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0027 | 0/0 | 10585 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0028 | 0/0 | 10574 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0033 | 0/0 | 10586 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0037 | 0/0 | 10586 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0038 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0039 | 0/0 | 10586 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0040 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0041 | 0/0 | 10585 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0042 | 0/0 | 10574 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0001t0044 | 0/0 | 10586 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003t0001 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003t0003 | 0/0 | 10584 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003t0018 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003t0036 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0003t0046 | 0/0 | 10590 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0001c0014t0003 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0001 | 0/0 | 10585 | 5 | 1 | 0 | 1 | 1 | 2 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0002 | 0/0 | 10584 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0005 | 0/0 | 10586 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0006 | 0/0 | 10585 | 4 | 0 | 2 | 0 | 1 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0009 | 0/0 | 10585 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0010 | 0/0 | 10585 | 3 | 0 | 0 | 3 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0011 | 0/0 | 10575 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0022 | 1/0 | 10585 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0029 | 0/0 | 10585 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0030 | 0/1 | 10584 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0031 | 0/0 | 10585 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0032 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0034 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0035 | 0/0 | 10585 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0002t0043 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0002c0005t0001 | 0/0 | 10585 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003c0004t0005 | 0/0 | 10586 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003c0004t0014 | 0/0 | 10585 | 2 | 2 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0003c0010t0001 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0004c0006t0001 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0004c0006t0026 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0005c0012t0003 | 0/0 | 10584 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0006c0013t0045 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0007c0009t0025 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0008c0011t0021 | 0/0 | 10574 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0009c0008t0001 | 0/0 | 10585 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| a0010c0007t0001 | 0/0 | 10585 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | copy fasta | chr2 | 143933068 | 144337512 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0003g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0004g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0004g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0004g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0004g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0005g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0005g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0007g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0007g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0007g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0007g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0008g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0008g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0008g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0008g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0009g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0011g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0011g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0012g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0012g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0013g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0013g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0015g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0015g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0016g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0016g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0017g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0017g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0019g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0020g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0023g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0024g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0027g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0028g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0033g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0037g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0038g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0039g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0040g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0041g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0042g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0001t0044g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0003g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0018g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0036g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0003t0046g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0001c0014t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0005g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0006g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0006g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0006g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0006g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0009g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0009g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0010g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0010g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0010g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0011g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0022g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0029g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0030g0068 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0031g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0032g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0034g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0035g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0002t0043g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0005t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0002c0005t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0003c0004t0005g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0003c0004t0014g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0003c0004t0014g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0003c0010t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0004c0006t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0004c0006t0026g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0005c0012t0003g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0006c0013t0045g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0007c0009t0025g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0008c0011t0021g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0009c0008t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| a0010c0007t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0002 | c0002 | t0006 | g0065 | EUR | GBR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00140 | hp2 | a0001 | c0001 | t0002 | g0113 | EUR | GBR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0050 | EUR | FIN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00323 | hp2 | a0001 | c0001 | t0041 | g0035 | EUR | FIN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00408 | hp1 | a0001 | c0001 | t0011 | g0114 | EAS | CHS | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | CHS | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00438 | hp1 | a0001 | c0001 | t0039 | g0046 | EAS | CHS | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00438 | hp2 | a0001 | c0001 | t0037 | g0025 | EAS | CHS | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0041 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0122 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00738 | hp1 | a0001 | c0001 | t0015 | g0011 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG00738 | hp2 | a0002 | c0002 | t0011 | g0039 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01081 | hp1 | a0001 | c0001 | t0007 | g0047 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01081 | hp2 | a0001 | c0001 | t0013 | g0062 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01109 | hp1 | a0002 | c0002 | t0006 | g0076 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01243 | hp1 | a0001 | c0001 | t0027 | g0064 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01243 | hp2 | a0001 | c0003 | t0046 | g0109 | AMR | PUR | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01358 | hp1 | a0001 | c0001 | t0007 | g0093 | AMR | CLM | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01358 | hp2 | a0002 | c0002 | t0006 | g0061 | AMR | CLM | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0094 | AMR | PEL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG01975 | hp2 | a0001 | c0001 | t0016 | g0044 | AMR | PEL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | KHV | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02027 | hp2 | a0001 | c0001 | t0002 | g0023 | EAS | KHV | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02055 | hp2 | a0001 | c0001 | t0008 | g0056 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0073 | EAS | KHV | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02135 | hp2 | a0001 | c0001 | t0005 | g0091 | EAS | KHV | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02155 | hp1 | a0002 | c0002 | t0010 | g0063 | EAS | CDX | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0021 | EAS | CDX | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02258 | hp1 | a0002 | c0002 | t0005 | g0053 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0124 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02602 | hp2 | a0002 | c0002 | t0001 | g0060 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02622 | hp1 | a0006 | c0013 | t0045 | g0101 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02622 | hp2 | a0002 | c0002 | t0032 | g0001 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02630 | hp1 | a0004 | c0006 | t0026 | g0081 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02630 | hp2 | a0002 | c0002 | t0009 | g0038 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02647 | hp1 | a0001 | c0001 | t0008 | g0104 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02647 | hp2 | a0001 | c0001 | t0003 | g0003 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02717 | hp1 | a0001 | c0001 | t0028 | g0034 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02717 | hp2 | a0001 | c0001 | t0005 | g0090 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02723 | hp1 | a0001 | c0003 | t0036 | g0106 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02723 | hp2 | a0001 | c0001 | t0044 | g0095 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02809 | hp1 | a0003 | c0004 | t0005 | g0088 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02809 | hp2 | a0002 | c0005 | t0001 | g0086 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02886 | hp1 | a0007 | c0009 | t0025 | g0078 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02886 | hp2 | a0005 | c0012 | t0003 | g0120 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02896 | hp1 | a0001 | c0001 | t0004 | g0055 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02896 | hp2 | a0002 | c0005 | t0001 | g0029 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02976 | hp1 | a0003 | c0010 | t0001 | g0045 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02976 | hp2 | a0001 | c0003 | t0003 | g0107 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0032 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03017 | hp2 | a0002 | c0002 | t0006 | g0048 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03098 | hp1 | a0001 | c0001 | t0009 | g0098 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03098 | hp2 | a0002 | c0002 | t0001 | g0037 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03130 | hp1 | a0010 | c0007 | t0001 | g0085 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03130 | hp2 | a0001 | c0001 | t0019 | g0099 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03139 | hp1 | a0001 | c0001 | t0003 | g0100 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03139 | hp2 | a0001 | c0001 | t0038 | g0079 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03195 | hp2 | a0003 | c0004 | t0014 | g0083 | AFR | ESN | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03225 | hp1 | a0001 | c0001 | t0008 | g0040 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03225 | hp2 | a0001 | c0001 | t0013 | g0096 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03453 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03453 | hp2 | a0001 | c0001 | t0008 | g0057 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0112 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03490 | hp2 | a0001 | c0001 | t0012 | g0092 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03492 | hp1 | a0001 | c0001 | t0012 | g0111 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0051 | SAS | PJL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03540 | hp1 | a0001 | c0001 | t0003 | g0103 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03540 | hp2 | a0001 | c0003 | t0003 | g0108 | AFR | GWD | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03579 | hp1 | a0001 | c0014 | t0003 | g0089 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03579 | hp2 | a0002 | c0002 | t0009 | g0036 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03942 | hp1 | a0001 | c0001 | t0023 | g0042 | SAS | BEB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03942 | hp2 | a0002 | c0002 | t0029 | g0075 | SAS | BEB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0022 | SAS | BEB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04184 | hp2 | a0009 | c0008 | t0001 | g0052 | SAS | BEB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04199 | hp1 | a0001 | c0001 | t0033 | g0019 | SAS | STU | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0007 | SAS | STU | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04204 | hp1 | a0001 | c0001 | t0007 | g0059 | SAS | STU | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0072 | SAS | STU | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18951 | hp2 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18960 | hp1 | a0001 | c0001 | t0017 | g0018 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18964 | hp2 | a0001 | c0001 | t0011 | g0074 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18980 | hp1 | a0001 | c0001 | t0004 | g0016 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18980 | hp2 | a0001 | c0001 | t0016 | g0009 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18983 | hp1 | a0001 | c0001 | t0015 | g0017 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18983 | hp2 | a0002 | c0002 | t0010 | g0031 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18986 | hp1 | a0002 | c0002 | t0001 | g0066 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19003 | hp2 | a0001 | c0001 | t0004 | g0020 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19043 | hp1 | a0004 | c0006 | t0001 | g0082 | AFR | LWK | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19043 | hp2 | a0002 | c0002 | t0043 | g0121 | AFR | LWK | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19066 | hp1 | a0002 | c0002 | t0010 | g0030 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19066 | hp2 | a0001 | c0001 | t0004 | g0015 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19068 | hp2 | a0001 | c0001 | t0017 | g0028 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19088 | hp2 | a0002 | c0002 | t0035 | g0026 | EAS | JPT | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0115 | AFR | YRI | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA19240 | hp2 | a0001 | c0003 | t0001 | g0105 | AFR | YRI | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20805 | hp1 | a0002 | c0002 | t0031 | g0054 | EUR | TSI | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20805 | hp2 | a0001 | c0001 | t0002 | g0033 | EUR | TSI | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | GIH | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20905 | hp2 | a0001 | c0001 | t0007 | g0024 | SAS | GIH | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02109 | hp1 | a0001 | c0001 | t0024 | g0123 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02109 | hp2 | a0002 | c0002 | t0034 | g0119 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG02559 | hp2 | a0008 | c0011 | t0021 | g0077 | AFR | ACB | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03471 | hp1 | a0001 | c0001 | t0042 | g0110 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| HG03471 | hp2 | a0003 | c0004 | t0014 | g0087 | AFR | MSL | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20300 | hp1 | a0002 | c0002 | t0002 | g0005 | AFR | USA | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA20300 | hp2 | a0001 | c0001 | t0040 | g0102 | AFR | USA | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA21309 | hp1 | a0001 | c0003 | t0018 | g0084 | AFR | LWK | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| NA21309 | hp2 | a0001 | c0001 | t0020 | g0080 | AFR | LWK | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0030 | g0068 | REF | REF | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| homoSapiens_grch38 | hp1 | a0002 | c0002 | t0022 | g0002 | REF | REF | GTDC1_chr2_143933068_144337512 | GTDC1 | chr2 | 143933068 | 144337512 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:143947122
|
G | A | 1 | a0006 | 1 | HG02622.hp1 | missense_variant | MODERATE | c.1307C>T | p.Pro436Leu | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1531/10585 | 1307/1377 | 436/458 | chr2 | 143947122 | ||
| chr2:143957264
|
T | C | 1 | a0009 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1061A>G | p.Tyr354Cys | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/12 | 1285/10585 | 1061/1377 | 354/458 | chr2 | 143957264 | ||
| chr2:144007377
|
C | T | 1 | a0005 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.680G>A | p.Gly227Asp | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/12 | 904/10585 | 680/1377 | 227/458 | chr2 | 144007377 | ||
| chr2:144007488
|
A | C | 1 | a0007 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.569T>G | p.Leu190Arg | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/12 | 793/10585 | 569/1377 | 190/458 | chr2 | 144007488 | ||
| chr2:144007509
|
T | C | 1 | a0008 | 1 | HG02559.hp2 | missense_variant | MODERATE | c.548A>G | p.His183Arg | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/12 | 772/10585 | 548/1377 | 183/458 | chr2 | 144007509 | ||
| chr2:144141890
|
A | T | 1 | a0010 | 1 | HG03130.hp1 | missense_variant | MODERATE | c.513T>A | p.Asp171Glu | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/12 | 737/10585 | 513/1377 | 171/458 | chr2 | 144141890 | ||
| chr2:144141915
|
A | G | 3 | a0003a0007a0008 | 6 | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(3): Show |
missense_variant | MODERATE | c.488T>C | p.Ile163Thr | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/12 | 712/10585 | 488/1377 | 163/458 | chr2 | 144141915 | ||
| chr2:144141992
|
C | A | 7 | a0001a0003a0004others(4): Show | 94 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(91): Show |
missense_variant | MODERATE | c.411G>T | p.Met137Ile | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/12 | 635/10585 | 411/1377 | 137/458 | chr2 | 144141992 | ||
| chr2:144142024
|
C | A | 1 | a0004 | 2 | HG02630.hp1 NA19043.hp1 |
missense_variant | MODERATE | c.379G>T | p.Val127Phe | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/12 | 603/10585 | 379/1377 | 127/458 | chr2 | 144142024 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:143947121
|
C | A | 1 | a0001c0014 | 1 | HG03579.hp1 | synonymous_variant | LOW | c.1308G>T | p.Pro436Pro | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1532/10585 | 1308/1377 | 436/458 | chr2 | 143947121 | ||
| chr2:144208641
|
T | C | 5 | a0001c0003a0001c0014a0002c0005others(2): Show | 14 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(11): Show |
synonymous_variant | LOW | c.141A>G | p.Leu47Leu | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/12 | 365/10585 | 141/1377 | 47/458 | chr2 | 144208641 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:143938128
|
C | G | 3 | a0001c0001t0039a0002c0002t0010a0002c0002t0035 | 5 | HG00438.hp1 HG02155.hp1 NA18983.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*8924G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 8924 | chr2 | 143938128 | |||||
| chr2:143938135
|
A | G | 2 | a0003c0004t0014a0008c0011t0021 | 3 | HG02559.hp2 HG03195.hp2 HG03471.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8917T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 8917 | chr2 | 143938135 | |||||
| chr2:143938455
|
C | T | 1 | a0001c0001t0020 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*8597G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 8597 | chr2 | 143938455 | |||||
| chr2:143938647
|
AT | A | 7 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(4): Show | 21 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*8404delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 8404 | chr2 | 143938647 | |||||
| chr2:143938917
|
C | G | 1 | a0001c0001t0017 | 2 | NA18960.hp1 NA19068.hp2 |
3_prime_UTR_variant | MODIFIER | c.*8135G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 8135 | chr2 | 143938917 | |||||
| chr2:143939069
|
T | C | 1 | a0002c0002t0034 | 1 | HG02109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7983A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 7983 | chr2 | 143939069 | |||||
| chr2:143939127
|
A | G | 1 | a0001c0001t0044 | 1 | HG02723.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7925T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 7925 | chr2 | 143939127 | |||||
| chr2:143939477
|
A | C | 1 | a0001c0001t0040 | 1 | NA20300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7575T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 7575 | chr2 | 143939477 | |||||
| chr2:143939546
|
T | C | 56 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | 114 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(111): Show |
3_prime_UTR_variant | MODIFIER | c.*7506A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 7506 | chr2 | 143939546 | |||||
| chr2:143940332
|
G | T | 2 | a0001c0001t0015a0001c0001t0037 | 3 | HG00438.hp2 HG00738.hp1 NA18983.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6720C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 6720 | chr2 | 143940332 | |||||
| chr2:143941209
|
A | T | 2 | a0001c0001t0020a0008c0011t0021 | 2 | HG02559.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5843T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 5843 | chr2 | 143941209 | |||||
| chr2:143941676
|
C | CA | 6 | a0001c0001t0005a0001c0001t0033a0001c0001t0037others(3): Show | 7 | HG00438.hp1 HG00438.hp2 HG02135.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*5375dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 5375 | chr2 | 143941676 | |||||
| chr2:143941676
|
CA | C | 14 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(11): Show | 26 | HG01081.hp1 HG01081.hp2 HG01243.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*5375delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 5375 | chr2 | 143941676 | |||||
| chr2:143941753
|
A | G | 1 | a0001c0003t0018 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5299T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 5299 | chr2 | 143941753 | |||||
| chr2:143941831
|
G | A | 1 | a0001c0001t0033 | 1 | HG04199.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5221C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 5221 | chr2 | 143941831 | |||||
| chr2:143942115
|
G | GTAAC | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4936_*4937insGTTA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4936 | chr2 | 143942115 | |||||
| chr2:143942172
|
C | T | 7 | a0001c0001t0007a0001c0001t0011a0001c0001t0016others(4): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*4880G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4880 | chr2 | 143942172 | |||||
| chr2:143942336
|
C | T | 8 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(5): Show | 22 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*4716G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4716 | chr2 | 143942336 | |||||
| chr2:143942351
|
A | G | 1 | a0002c0002t0031 | 1 | NA20805.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4701T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4701 | chr2 | 143942351 | |||||
| chr2:143942351
|
A | T | 1 | a0001c0001t0016 | 2 | HG01975.hp2 NA18980.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4701T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4701 | chr2 | 143942351 | |||||
| chr2:143942358
|
A | G | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4694T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4694 | chr2 | 143942358 | |||||
| chr2:143942376
|
C | T | 2 | a0001c0001t0009a0002c0002t0009 | 3 | HG02630.hp2 HG03098.hp1 HG03579.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4676G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4676 | chr2 | 143942376 | |||||
| chr2:143942404
|
T | C | 1 | a0006c0013t0045 | 1 | HG02622.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4648A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4648 | chr2 | 143942404 | |||||
| chr2:143942440
|
C | T | 2 | a0002c0002t0029a0002c0002t0030 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4612G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4612 | chr2 | 143942440 | |||||
| chr2:143942558
|
G | A | 1 | a0001c0001t0038 | 1 | HG03139.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4494C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4494 | chr2 | 143942558 | |||||
| chr2:143942619
|
A | G | 7 | a0001c0001t0007a0001c0001t0011a0001c0001t0016others(4): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*4433T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4433 | chr2 | 143942619 | |||||
| chr2:143943005
|
C | T | 1 | a0001c0001t0028 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4047G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 4047 | chr2 | 143943005 | |||||
| chr2:143943254
|
T | C | 1 | a0001c0003t0018 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3798A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 3798 | chr2 | 143943254 | |||||
| chr2:143943270
|
G | A | 3 | a0001c0001t0039a0002c0002t0006a0002c0002t0010 | 8 | HG00140.hp1 HG00438.hp1 HG01109.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*3782C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 3782 | chr2 | 143943270 | |||||
| chr2:143943506
|
A | G | 2 | a0001c0001t0024a0002c0002t0043 | 2 | HG02109.hp1 NA19043.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3546T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 3546 | chr2 | 143943506 | |||||
| chr2:143944081
|
A | T | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2971T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2971 | chr2 | 143944081 | |||||
| chr2:143944239
|
G | GCA | 4 | a0001c0001t0008a0001c0001t0015a0001c0001t0044others(1): Show | 8 | HG00738.hp1 HG01243.hp2 HG02055.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2811_*2812dupTG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2812 | chr2 | 143944239 | |||||
| chr2:143944239
|
GCACACAC others(3): Show |
G | 9 | a0001c0001t0007a0001c0001t0011a0001c0001t0016others(6): Show | 15 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2803_*2812delTGTG others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2803 | chr2 | 143944239 | |||||
| chr2:143944308
|
T | C | 1 | a0001c0001t0040 | 1 | NA20300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2744A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2744 | chr2 | 143944308 | |||||
| chr2:143944473
|
C | T | 1 | a0001c0001t0027 | 1 | HG01243.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2579G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2579 | chr2 | 143944473 | |||||
| chr2:143944474
|
G | A | 2 | a0001c0001t0041a0001c0001t0042 | 2 | HG00323.hp2 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2578C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2578 | chr2 | 143944474 | |||||
| chr2:143944505
|
C | T | 1 | a0004c0006t0026 | 1 | HG02630.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2547G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2547 | chr2 | 143944505 | |||||
| chr2:143944587
|
C | T | 1 | a0007c0009t0025 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2465G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2465 | chr2 | 143944587 | |||||
| chr2:143944591
|
C | T | 1 | a0001c0001t0024 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2461G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2461 | chr2 | 143944591 | |||||
| chr2:143944619
|
T | C | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2433A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2433 | chr2 | 143944619 | |||||
| chr2:143944634
|
T | C | 6 | a0001c0001t0007a0001c0001t0011a0001c0001t0016others(3): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*2418A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2418 | chr2 | 143944634 | |||||
| chr2:143944690
|
C | T | 1 | a0001c0001t0012 | 2 | HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2362G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2362 | chr2 | 143944690 | |||||
| chr2:143944699
|
C | T | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2353G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2353 | chr2 | 143944699 | |||||
| chr2:143944733
|
C | T | 1 | a0001c0001t0023 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2319G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2319 | chr2 | 143944733 | |||||
| chr2:143944918
|
CT | C | 5 | a0001c0001t0003a0001c0001t0019a0001c0003t0003others(2): Show | 8 | HG02647.hp2 HG02886.hp2 HG02976.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2133delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2133 | chr2 | 143944918 | |||||
| chr2:143944998
|
G | A | 1 | a0002c0002t0043 | 1 | NA19043.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2054C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2054 | chr2 | 143944998 | |||||
| chr2:143944999
|
T | G | 1 | a0001c0001t0044 | 1 | HG02723.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2053A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 2053 | chr2 | 143944999 | |||||
| chr2:143945467
|
C | T | 1 | a0001c0003t0046 | 1 | HG01243.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1585G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1585 | chr2 | 143945467 | |||||
| chr2:143945611
|
T | C | 1 | a0006c0013t0045 | 1 | HG02622.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1441A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1441 | chr2 | 143945611 | |||||
| chr2:143945876
|
T | C | 2 | a0001c0001t0008a0001c0003t0046 | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1176A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1176 | chr2 | 143945876 | |||||
| chr2:143945933
|
T | C | 60 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*1119A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 1119 | chr2 | 143945933 | |||||
| chr2:143946384
|
G | T | 2 | a0001c0001t0020a0008c0011t0021 | 2 | HG02559.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*668C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 668 | chr2 | 143946384 | |||||
| chr2:143946478
|
C | T | 1 | a0001c0001t0019 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*574G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 574 | chr2 | 143946478 | |||||
| chr2:143946565
|
G | T | 1 | a0001c0003t0018 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*487C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 12/12 | 487 | chr2 | 143946565 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:143947148
|
G | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1294-13C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143947148 | ||||||
| chr2:143947593
|
T | C | 15 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(12): Show | 15 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.1294-458A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143947593 | ||||||
| chr2:143947791
|
AG | A | 3 | a0001c0001t0015g0011a0001c0001t0015g0017a0001c0001t0037g0025 | 3 | HG00438.hp2 HG00738.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1294-657delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143947791 | ||||||
| chr2:143947824
|
A | G | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1294-689T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143947824 | ||||||
| chr2:143948044
|
A | G | 1 | a0001c0001t0002g0113 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1294-909T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948044 | ||||||
| chr2:143948174
|
G | T | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1294-1039C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948174 | ||||||
| chr2:143948367
|
A | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1294-1232T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948367 | ||||||
| chr2:143948481
|
C | T | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.1294-1346G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948481 | ||||||
| chr2:143948696
|
T | G | 15 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(12): Show | 15 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.1294-1561A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948696 | ||||||
| chr2:143948700
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1294-1565A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948700 | ||||||
| chr2:143948903
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1294-1768A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143948903 | ||||||
| chr2:143949132
|
A | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1294-1997T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949132 | ||||||
| chr2:143949136
|
G | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1294-2001C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949136 | ||||||
| chr2:143949586
|
A | C | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1293+2396T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949586 | ||||||
| chr2:143949663
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1293+2319T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949663 | ||||||
| chr2:143949692
|
G | A | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1293+2290C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949692 | ||||||
| chr2:143949838
|
A | AT | 4 | a0001c0001t0008g0056a0001c0001t0008g0057a0001c0001t0008g0104others(1): Show | 4 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1293+2143dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949838 | ||||||
| chr2:143949855
|
A | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1293+2127T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949855 | ||||||
| chr2:143949889
|
C | T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1293+2093G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143949889 | ||||||
| chr2:143950087
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1293+1895A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143950087 | ||||||
| chr2:143950704
|
A | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1293+1278T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143950704 | ||||||
| chr2:143950825
|
T | C | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1293+1157A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143950825 | ||||||
| chr2:143950859
|
T | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1293+1123A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143950859 | ||||||
| chr2:143951126
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1293+856A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951126 | ||||||
| chr2:143951267
|
C | G | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1293+715G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951267 | ||||||
| chr2:143951362
|
A | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1293+620T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951362 | ||||||
| chr2:143951383
|
G | A | 2 | a0001c0001t0012g0092a0001c0001t0012g0111 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1293+599C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951383 | ||||||
| chr2:143951426
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1293+556G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951426 | ||||||
| chr2:143951569
|
T | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1293+413A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951569 | ||||||
| chr2:143951617
|
A | G | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1293+365T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951617 | ||||||
| chr2:143951694
|
A | ATT | 2 | a0001c0001t0017g0018a0001c0001t0017g0028 | 2 | NA18960.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.1293+287_1293+288i others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951694 | ||||||
| chr2:143951695
|
G | A | 2 | a0001c0001t0017g0018a0001c0001t0017g0028 | 2 | NA18960.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.1293+287C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951695 | ||||||
| chr2:143951699
|
C | T | 2 | a0001c0001t0017g0018a0001c0001t0017g0028 | 2 | NA18960.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.1293+283G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951699 | ||||||
| chr2:143951735
|
C | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1293+247G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951735 | ||||||
| chr2:143951776
|
T | C | 51 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(48): Show | 51 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(48): Show |
intron_variant | MODIFIER | c.1293+206A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951776 | ||||||
| chr2:143951794
|
A | G | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1293+188T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 11/11 | chr2 | 143951794 | ||||||
| chr2:143952344
|
G | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.1202-271C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 10/11 | chr2 | 143952344 | ||||||
| chr2:143952459
|
T | C | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1201+314A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 10/11 | chr2 | 143952459 | ||||||
| chr2:143952728
|
A | G | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(22): Show |
intron_variant | MODIFIER | c.1201+45T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 10/11 | chr2 | 143952728 | ||||||
| chr2:143952756
|
T | C | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1201+17A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 10/11 | chr2 | 143952756 | ||||||
| chr2:143952970
|
G | A | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1131-127C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143952970 | ||||||
| chr2:143953046
|
C | T | 2 | a0001c0001t0002g0021a0001c0001t0002g0023 | 2 | HG02027.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.1131-203G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953046 | ||||||
| chr2:143953254
|
C | T | 3 | a0001c0001t0001g0049a0001c0001t0001g0067a0001c0001t0005g0091 | 3 | HG02135.hp2 NA19003.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.1131-411G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953254 | ||||||
| chr2:143953716
|
T | A | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1131-873A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953716 | ||||||
| chr2:143953801
|
T | C | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1131-958A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953801 | ||||||
| chr2:143953940
|
G | C | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.1131-1097C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953940 | ||||||
| chr2:143953998
|
C | T | 2 | a0001c0001t0002g0021a0001c0001t0002g0023 | 2 | HG02027.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.1131-1155G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143953998 | ||||||
| chr2:143954020
|
T | C | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1131-1177A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954020 | ||||||
| chr2:143954109
|
G | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.1131-1266C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954109 | ||||||
| chr2:143954195
|
C | T | 26 | a0001c0001t0005g0090a0001c0001t0007g0024a0001c0001t0007g0047others(23): Show | 26 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.1131-1352G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954195 | ||||||
| chr2:143954302
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1131-1459A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954302 | ||||||
| chr2:143954850
|
C | T | 98 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(95): Show | 98 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.1131-2007G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954850 | ||||||
| chr2:143954878
|
T | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1131-2035A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143954878 | ||||||
| chr2:143955062
|
C | T | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1130+2133G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143955062 | ||||||
| chr2:143955558
|
A | T | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1130+1637T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143955558 | ||||||
| chr2:143955677
|
A | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1130+1518T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143955677 | ||||||
| chr2:143956062
|
T | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.1130+1133A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956062 | ||||||
| chr2:143956130
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1130+1065A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956130 | ||||||
| chr2:143956187
|
T | G | 1 | a0003c0004t0005g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1130+1008A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956187 | ||||||
| chr2:143956287
|
C | T | 3 | a0001c0001t0040g0102a0003c0004t0014g0083a0003c0004t0014g0087 | 3 | HG03195.hp2 HG03471.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1130+908G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956287 | ||||||
| chr2:143956462
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1130+733T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956462 | ||||||
| chr2:143956579
|
A | G | 12 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.1130+616T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956579 | ||||||
| chr2:143956630
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.1130+565G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956630 | ||||||
| chr2:143956716
|
G | A | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1130+479C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956716 | ||||||
| chr2:143956784
|
A | AT | 12 | a0001c0001t0007g0047a0001c0001t0007g0059a0001c0001t0007g0093others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.1130+410dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956784 | ||||||
| chr2:143956793
|
T | C | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1130+402A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956793 | ||||||
| chr2:143956849
|
G | A | 2 | a0002c0002t0002g0004a0002c0002t0002g0005 | 2 | HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1130+346C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956849 | ||||||
| chr2:143956949
|
T | C | 2 | a0001c0001t0012g0092a0001c0001t0012g0111 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1130+246A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143956949 | ||||||
| chr2:143957131
|
G | A | 1 | a0002c0002t0001g0037 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1130+64C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 9/11 | chr2 | 143957131 | ||||||
| chr2:143957596
|
C | T | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.986-257G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143957596 | ||||||
| chr2:143957784
|
G | A | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.986-445C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143957784 | ||||||
| chr2:143957923
|
G | A | 2 | a0003c0004t0014g0083a0003c0004t0014g0087 | 2 | HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.986-584C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143957923 | ||||||
| chr2:143958291
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.986-952C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958291 | ||||||
| chr2:143958345
|
G | C | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.986-1006C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958345 | ||||||
| chr2:143958356
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.986-1017G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958356 | ||||||
| chr2:143958362
|
C | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.986-1023G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958362 | ||||||
| chr2:143958414
|
T | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.986-1075A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958414 | ||||||
| chr2:143958487
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.986-1148G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958487 | ||||||
| chr2:143958634
|
A | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.986-1295T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958634 | ||||||
| chr2:143958782
|
C | CT | 4 | a0001c0001t0001g0097a0001c0001t0005g0090a0002c0002t0043g0121others(1): Show | 4 | HG02055.hp1 HG02717.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.986-1444dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958782 | ||||||
| chr2:143958782
|
CT | C | 22 | a0001c0001t0001g0027a0001c0001t0007g0024a0001c0001t0007g0047others(19): Show | 22 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.986-1444delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958782 | ||||||
| chr2:143958900
|
C | T | 1 | a0002c0002t0032g0001 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.986-1561G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143958900 | ||||||
| chr2:143959028
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.986-1689G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959028 | ||||||
| chr2:143959150
|
A | C | 24 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(21): Show | 24 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.986-1811T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959150 | ||||||
| chr2:143959552
|
A | C | 2 | a0002c0002t0029g0075a0002c0002t0030g0068 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.986-2213T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959552 | ||||||
| chr2:143959750
|
AT | A | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.986-2412delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959750 | ||||||
| chr2:143959782
|
A | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.986-2443T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959782 | ||||||
| chr2:143959902
|
C | CTA | 2 | a0001c0001t0038g0079a0001c0001t0044g0095 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.986-2565_986-2564d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143959902 | ||||||
| chr2:143960002
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.986-2663C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960002 | ||||||
| chr2:143960050
|
A | G | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.986-2711T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960050 | ||||||
| chr2:143960439
|
C | T | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.986-3100G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960439 | ||||||
| chr2:143960662
|
G | A | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.986-3323C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960662 | ||||||
| chr2:143960731
|
C | T | 15 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(12): Show | 15 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.986-3392G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960731 | ||||||
| chr2:143960743
|
A | G | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.986-3404T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960743 | ||||||
| chr2:143960897
|
C | T | 1 | a0002c0002t0010g0031 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.986-3558G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960897 | ||||||
| chr2:143960920
|
C | T | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.986-3581G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960920 | ||||||
| chr2:143960935
|
A | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.986-3596T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143960935 | ||||||
| chr2:143961014
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.986-3675C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143961014 | ||||||
| chr2:143961036
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.986-3697C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143961036 | ||||||
| chr2:143961044
|
G | C | 2 | a0001c0001t0038g0079a0001c0001t0044g0095 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.986-3705C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143961044 | ||||||
| chr2:143961082
|
T | C | 4 | a0001c0001t0019g0099a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.986-3743A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143961082 | ||||||
| chr2:143961191
|
T | C | 2 | a0001c0001t0023g0042a0002c0002t0005g0053 | 2 | HG02258.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.986-3852A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143961191 | ||||||
| chr2:143962508
|
A | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.986-5169T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962508 | ||||||
| chr2:143962518
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.986-5179A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962518 | ||||||
| chr2:143962535
|
C | T | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.986-5196G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962535 | ||||||
| chr2:143962706
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.986-5367A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962706 | ||||||
| chr2:143962870
|
T | G | 2 | a0001c0001t0001g0012a0001c0001t0001g0112 | 2 | HG03490.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.986-5531A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962870 | ||||||
| chr2:143962972
|
G | A | 6 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0029g0075others(3): Show | 6 | HG02622.hp2 HG02896.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.986-5633C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143962972 | ||||||
| chr2:143963017
|
A | C | 7 | a0001c0001t0001g0041a0002c0002t0001g0050a0002c0002t0001g0051others(4): Show | 7 | HG00323.hp1 HG00735.hp1 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.986-5678T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143963017 | ||||||
| chr2:143964179
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.985+6474T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964179 | ||||||
| chr2:143964309
|
T | C | 1 | a0002c0002t0010g0031 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.985+6344A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964309 | ||||||
| chr2:143964396
|
T | A | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.985+6257A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964396 | ||||||
| chr2:143964553
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.985+6100C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964553 | ||||||
| chr2:143964609
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.985+6044G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964609 | ||||||
| chr2:143964610
|
T | C | 3 | a0001c0001t0039g0046a0002c0002t0010g0063a0002c0002t0035g0026 | 3 | HG00438.hp1 HG02155.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.985+6043A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964610 | ||||||
| chr2:143964936
|
G | A | 5 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118others(2): Show | 5 | HG00735.hp2 HG02922.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.985+5717C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964936 | ||||||
| chr2:143964977
|
G | A | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.985+5676C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143964977 | ||||||
| chr2:143965000
|
A | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.985+5653T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965000 | ||||||
| chr2:143965060
|
C | CT | 9 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(6): Show | 9 | HG00323.hp1 HG01243.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.985+5592dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965060 | ||||||
| chr2:143965063
|
T | C | 2 | a0003c0004t0014g0083a0003c0004t0014g0087 | 2 | HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.985+5590A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965063 | ||||||
| chr2:143965508
|
T | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.985+5145A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965508 | ||||||
| chr2:143965544
|
T | A | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.985+5109A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965544 | ||||||
| chr2:143965591
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.985+5062A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965591 | ||||||
| chr2:143965621
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.985+5032C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965621 | ||||||
| chr2:143965777
|
G | A | 19 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(16): Show | 19 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(16): Show |
intron_variant | MODIFIER | c.985+4876C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965777 | ||||||
| chr2:143965958
|
T | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.985+4695A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143965958 | ||||||
| chr2:143966413
|
A | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.985+4240T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143966413 | ||||||
| chr2:143966738
|
A | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.985+3915T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143966738 | ||||||
| chr2:143966804
|
T | C | 18 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(15): Show | 18 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.985+3849A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143966804 | ||||||
| chr2:143967006
|
C | G | 1 | a0002c0002t0032g0001 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.985+3647G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967006 | ||||||
| chr2:143967172
|
T | A | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.985+3481A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967172 | ||||||
| chr2:143967206
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.985+3447G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967206 | ||||||
| chr2:143967291
|
C | T | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.985+3362G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967291 | ||||||
| chr2:143967306
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.985+3347A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967306 | ||||||
| chr2:143967315
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.985+3338C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967315 | ||||||
| chr2:143967515
|
A | G | 24 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(21): Show | 24 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.985+3138T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967515 | ||||||
| chr2:143967583
|
G | A | 2 | a0001c0001t0001g0116a0004c0006t0026g0081 | 2 | HG02559.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.985+3070C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967583 | ||||||
| chr2:143967655
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.985+2998C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967655 | ||||||
| chr2:143967930
|
T | C | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG01243.hp2 HG02055.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.985+2723A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143967930 | ||||||
| chr2:143968120
|
T | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.985+2533A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968120 | ||||||
| chr2:143968263
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.985+2390A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968263 | ||||||
| chr2:143968370
|
C | T | 1 | a0002c0002t0001g0037 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.985+2283G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968370 | ||||||
| chr2:143968386
|
CAGTA | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.985+2263_985+2266d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968386 | ||||||
| chr2:143968577
|
C | T | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.985+2076G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968577 | ||||||
| chr2:143968610
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.985+2043C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968610 | ||||||
| chr2:143968977
|
C | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.985+1676G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143968977 | ||||||
| chr2:143969076
|
A | AG | 24 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(21): Show | 24 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.985+1576dupC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969076 | ||||||
| chr2:143969092
|
G | T | 19 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(16): Show | 19 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(16): Show |
intron_variant | MODIFIER | c.985+1561C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969092 | ||||||
| chr2:143969108
|
T | C | 5 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0029g0075others(2): Show | 5 | HG02622.hp2 HG03453.hp1 HG03942.hp2 others(2): Show |
intron_variant | MODIFIER | c.985+1545A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969108 | ||||||
| chr2:143969132
|
G | A | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.985+1521C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969132 | ||||||
| chr2:143969381
|
G | A | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.985+1272C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969381 | ||||||
| chr2:143969416
|
A | G | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.985+1237T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969416 | ||||||
| chr2:143969466
|
G | T | 1 | a0002c0002t0005g0053 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.985+1187C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969466 | ||||||
| chr2:143969493
|
C | T | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.985+1160G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969493 | ||||||
| chr2:143969557
|
G | A | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.985+1096C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969557 | ||||||
| chr2:143969892
|
C | T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.985+761G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143969892 | ||||||
| chr2:143970347
|
T | A | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.985+306A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143970347 | ||||||
| chr2:143970348
|
C | T | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.985+305G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143970348 | ||||||
| chr2:143970481
|
GCTTA | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.985+168_985+171del others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143970481 | ||||||
| chr2:143970493
|
A | AT | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.985+159dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 8/11 | chr2 | 143970493 | ||||||
| chr2:143970911
|
T | C | 16 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(13): Show | 16 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.876-149A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143970911 | ||||||
| chr2:143971068
|
C | A | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-306G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143971068 | ||||||
| chr2:143971115
|
C | CT | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-354dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143971115 | ||||||
| chr2:143971115
|
CT | C | 5 | a0001c0001t0001g0008a0001c0001t0003g0003a0001c0001t0004g0020others(2): Show | 5 | HG02647.hp2 HG02723.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.876-354delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143971115 | ||||||
| chr2:143971312
|
G | A | 22 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(19): Show | 22 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.876-550C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143971312 | ||||||
| chr2:143971942
|
A | C | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.876-1180T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143971942 | ||||||
| chr2:143972062
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-1300A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972062 | ||||||
| chr2:143972221
|
C | T | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.876-1459G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972221 | ||||||
| chr2:143972309
|
CAATAT | C | 2 | a0001c0001t0001g0116a0004c0006t0026g0081 | 2 | HG02559.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.876-1552_876-1548d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972309 | ||||||
| chr2:143972491
|
T | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-1729A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972491 | ||||||
| chr2:143972845
|
C | G | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.876-2083G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972845 | ||||||
| chr2:143972896
|
T | C | 1 | a0001c0001t0003g0103 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.876-2134A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143972896 | ||||||
| chr2:143973280
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-2518A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973280 | ||||||
| chr2:143973282
|
G | A | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.876-2520C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973282 | ||||||
| chr2:143973289
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.876-2527C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973289 | ||||||
| chr2:143973607
|
G | A | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.876-2845C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973607 | ||||||
| chr2:143973618
|
G | A | 19 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(16): Show | 19 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.876-2856C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973618 | ||||||
| chr2:143973721
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-2959C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973721 | ||||||
| chr2:143973743
|
C | T | 2 | a0001c0001t0009g0098a0002c0002t0009g0036 | 2 | HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.876-2981G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973743 | ||||||
| chr2:143973788
|
C | CAA | 19 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(16): Show | 19 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.876-3028_876-3027d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973788 | ||||||
| chr2:143973965
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.876-3203G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143973965 | ||||||
| chr2:143974068
|
T | C | 16 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(13): Show | 16 | HG00140.hp2 HG01975.hp1 HG02027.hp2 others(13): Show |
intron_variant | MODIFIER | c.876-3306A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974068 | ||||||
| chr2:143974435
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-3673C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974435 | ||||||
| chr2:143974551
|
A | G | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.876-3789T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974551 | ||||||
| chr2:143974635
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.876-3873T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974635 | ||||||
| chr2:143974709
|
G | GT | 5 | a0001c0001t0020g0080a0001c0001t0044g0095a0001c0003t0018g0084others(2): Show | 5 | HG02559.hp2 HG02622.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.876-3948dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974709 | ||||||
| chr2:143974733
|
G | A | 1 | a0002c0002t0006g0061 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.876-3971C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974733 | ||||||
| chr2:143974799
|
T | C | 2 | a0001c0001t0020g0080a0008c0011t0021g0077 | 2 | HG02559.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.876-4037A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974799 | ||||||
| chr2:143974887
|
C | T | 37 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(34): Show | 37 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.876-4125G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143974887 | ||||||
| chr2:143975032
|
GCACCAC | G | 11 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(8): Show | 11 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.876-4276_876-4271d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143975032 | ||||||
| chr2:143975056
|
C | T | 2 | a0002c0002t0029g0075a0002c0002t0030g0068 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.876-4294G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143975056 | ||||||
| chr2:143975679
|
C | T | 4 | a0001c0001t0019g0099a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.876-4917G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143975679 | ||||||
| chr2:143976182
|
C | CT | 14 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(11): Show | 14 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.876-5421dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976182 | ||||||
| chr2:143976197
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-5435G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976197 | ||||||
| chr2:143976320
|
G | T | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-5558C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976320 | ||||||
| chr2:143976418
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.876-5656A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976418 | ||||||
| chr2:143976803
|
A | G | 4 | a0001c0001t0020g0080a0001c0003t0018g0084a0006c0013t0045g0101others(1): Show | 4 | HG02559.hp2 HG02622.hp1 NA21309.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-6041T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976803 | ||||||
| chr2:143976955
|
G | A | 4 | a0001c0001t0020g0080a0001c0003t0018g0084a0006c0013t0045g0101others(1): Show | 4 | HG02559.hp2 HG02622.hp1 NA21309.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-6193C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143976955 | ||||||
| chr2:143977425
|
C | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.876-6663G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143977425 | ||||||
| chr2:143977553
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.876-6791A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143977553 | ||||||
| chr2:143977696
|
G | T | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.876-6934C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143977696 | ||||||
| chr2:143977833
|
A | G | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-7071T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143977833 | ||||||
| chr2:143977964
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-7202A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143977964 | ||||||
| chr2:143978041
|
T | G | 1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.876-7279A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978041 | ||||||
| chr2:143978311
|
C | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.876-7549G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978311 | ||||||
| chr2:143978495
|
C | T | 24 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(21): Show | 24 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.876-7733G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978495 | ||||||
| chr2:143978561
|
A | G | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.876-7799T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978561 | ||||||
| chr2:143978644
|
G | A | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.876-7882C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978644 | ||||||
| chr2:143978779
|
T | C | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.876-8017A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978779 | ||||||
| chr2:143978819
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.876-8057C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143978819 | ||||||
| chr2:143979245
|
T | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.876-8483A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979245 | ||||||
| chr2:143979331
|
G | A | 1 | a0001c0001t0008g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.876-8569C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979331 | ||||||
| chr2:143979800
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.876-9038A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979800 | ||||||
| chr2:143979851
|
C | G | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-9089G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979851 | ||||||
| chr2:143979854
|
T | C | 2 | a0001c0003t0018g0084a0006c0013t0045g0101 | 2 | HG02622.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.876-9092A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979854 | ||||||
| chr2:143979914
|
T | C | 4 | a0001c0001t0001g0008a0001c0001t0003g0003a0001c0001t0007g0093others(1): Show | 4 | HG01358.hp1 HG02647.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.876-9152A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979914 | ||||||
| chr2:143979915
|
A | C | 2 | a0001c0003t0018g0084a0006c0013t0045g0101 | 2 | HG02622.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.876-9153T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979915 | ||||||
| chr2:143979928
|
C | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.876-9166G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979928 | ||||||
| chr2:143979941
|
C | G | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-9179G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143979941 | ||||||
| chr2:143980425
|
C | T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.876-9663G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143980425 | ||||||
| chr2:143980764
|
G | A | 2 | a0001c0001t0003g0003a0005c0012t0003g0120 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.876-10002C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143980764 | ||||||
| chr2:143981240
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.876-10478G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981240 | ||||||
| chr2:143981279
|
A | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.876-10517T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981279 | ||||||
| chr2:143981300
|
T | C | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.876-10538A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981300 | ||||||
| chr2:143981389
|
C | T | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.876-10627G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981389 | ||||||
| chr2:143981661
|
G | A | 12 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.876-10899C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981661 | ||||||
| chr2:143981772
|
C | G | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.876-11010G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981772 | ||||||
| chr2:143981841
|
AT | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.876-11080delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143981841 | ||||||
| chr2:143982075
|
A | G | 97 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(94): Show | 97 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(94): Show |
intron_variant | MODIFIER | c.876-11313T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982075 | ||||||
| chr2:143982184
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.876-11422A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982184 | ||||||
| chr2:143982236
|
C | CT | 5 | a0001c0001t0020g0080a0001c0001t0027g0064a0001c0003t0018g0084others(2): Show | 5 | HG01243.hp1 HG02559.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.876-11475dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982236 | ||||||
| chr2:143982385
|
T | C | 54 | a0001c0001t0001g0008a0001c0001t0002g0010a0001c0001t0002g0013others(51): Show | 54 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(51): Show |
intron_variant | MODIFIER | c.876-11623A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982385 | ||||||
| chr2:143982387
|
C | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.876-11625G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982387 | ||||||
| chr2:143982415
|
A | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-11653T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982415 | ||||||
| chr2:143982549
|
T | A | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-11787A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982549 | ||||||
| chr2:143982584
|
A | G | 25 | a0001c0001t0005g0090a0001c0001t0007g0024a0001c0001t0007g0047others(22): Show | 25 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(22): Show |
intron_variant | MODIFIER | c.876-11822T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982584 | ||||||
| chr2:143982591
|
T | C | 2 | a0002c0002t0029g0075a0002c0002t0030g0068 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.876-11829A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982591 | ||||||
| chr2:143982615
|
C | G | 2 | a0003c0004t0014g0083a0003c0004t0014g0087 | 2 | HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.876-11853G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982615 | ||||||
| chr2:143982642
|
C | T | 2 | a0001c0001t0002g0010a0001c0001t0002g0022 | 2 | HG04184.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.876-11880G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982642 | ||||||
| chr2:143982652
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.876-11890G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982652 | ||||||
| chr2:143982713
|
T | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.876-11951A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982713 | ||||||
| chr2:143982764
|
C | T | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-12002G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982764 | ||||||
| chr2:143982765
|
A | G | 23 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(20): Show | 23 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(20): Show |
intron_variant | MODIFIER | c.876-12003T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982765 | ||||||
| chr2:143982853
|
C | CA | 5 | a0001c0001t0001g0041a0002c0002t0009g0036a0002c0002t0031g0054others(2): Show | 5 | HG00735.hp1 HG02109.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.876-12092dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982853 | ||||||
| chr2:143982853
|
CA | C | 26 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0002g0010others(23): Show | 26 | HG00140.hp2 HG00408.hp1 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.876-12092delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982853 | ||||||
| chr2:143982853
|
CAA | C | 21 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(18): Show | 21 | HG00738.hp2 HG01081.hp1 HG01358.hp1 others(18): Show |
intron_variant | MODIFIER | c.876-12093_876-1209 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982853 | ||||||
| chr2:143982990
|
A | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-12228T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143982990 | ||||||
| chr2:143983275
|
C | G | 1 | a0001c0001t0001g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.876-12513G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983275 | ||||||
| chr2:143983302
|
G | C | 9 | a0001c0001t0001g0008a0001c0001t0003g0003a0001c0001t0019g0099others(6): Show | 9 | HG02647.hp2 HG02886.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.876-12540C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983302 | ||||||
| chr2:143983320
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-12558T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983320 | ||||||
| chr2:143983468
|
G | GT | 25 | a0001c0001t0001g0069a0001c0001t0001g0072a0001c0001t0001g0124others(22): Show | 25 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(22): Show |
intron_variant | MODIFIER | c.876-12707dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983468 | ||||||
| chr2:143983468
|
GTT | G | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-12708_876-1270 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983468 | ||||||
| chr2:143983541
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.876-12779G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983541 | ||||||
| chr2:143983558
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.876-12796G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983558 | ||||||
| chr2:143983631
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.876-12869C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983631 | ||||||
| chr2:143983663
|
C | T | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.876-12901G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983663 | ||||||
| chr2:143983709
|
G | A | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.876-12947C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983709 | ||||||
| chr2:143983886
|
G | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-13124C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983886 | ||||||
| chr2:143983937
|
T | C | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.876-13175A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143983937 | ||||||
| chr2:143984230
|
C | T | 1 | a0001c0001t0001g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.876-13468G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143984230 | ||||||
| chr2:143984364
|
T | C | 23 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(20): Show | 23 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(20): Show |
intron_variant | MODIFIER | c.876-13602A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143984364 | ||||||
| chr2:143984391
|
C | G | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-13629G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143984391 | ||||||
| chr2:143984782
|
T | C | 23 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(20): Show | 23 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(20): Show |
intron_variant | MODIFIER | c.876-14020A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143984782 | ||||||
| chr2:143985282
|
G | A | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.876-14520C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143985282 | ||||||
| chr2:143985410
|
A | C | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.876-14648T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143985410 | ||||||
| chr2:143985737
|
A | ATATAC | 45 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(42): Show | 45 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.876-14976_876-1497 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143985737 | ||||||
| chr2:143985869
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.876-15107A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143985869 | ||||||
| chr2:143986102
|
G | A | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.876-15340C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143986102 | ||||||
| chr2:143986232
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.876-15470A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143986232 | ||||||
| chr2:143986247
|
C | T | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.876-15485G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143986247 | ||||||
| chr2:143986470
|
C | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.876-15708G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143986470 | ||||||
| chr2:143986959
|
C | T | 10 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(7): Show | 10 | HG02055.hp2 HG02559.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.876-16197G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143986959 | ||||||
| chr2:143987176
|
T | G | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.876-16414A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987176 | ||||||
| chr2:143987191
|
T | G | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.876-16429A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987191 | ||||||
| chr2:143987361
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.876-16599C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987361 | ||||||
| chr2:143987402
|
T | C | 2 | a0001c0001t0002g0073a0001c0001t0002g0094 | 2 | HG01975.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.876-16640A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987402 | ||||||
| chr2:143987727
|
G | A | 2 | a0001c0001t0038g0079a0008c0011t0021g0077 | 2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.876-16965C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987727 | ||||||
| chr2:143987882
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.876-17120G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143987882 | ||||||
| chr2:143988106
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-17344C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988106 | ||||||
| chr2:143988182
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-17420T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988182 | ||||||
| chr2:143988412
|
T | A | 5 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0001t0044g0095others(2): Show | 5 | HG02559.hp2 HG02723.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.876-17650A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988412 | ||||||
| chr2:143988412
|
T | G | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.876-17650A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988412 | ||||||
| chr2:143988501
|
T | A | 43 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(40): Show | 43 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(40): Show |
intron_variant | MODIFIER | c.876-17739A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988501 | ||||||
| chr2:143988525
|
T | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.876-17763A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988525 | ||||||
| chr2:143988872
|
G | C | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(22): Show |
intron_variant | MODIFIER | c.876-18110C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143988872 | ||||||
| chr2:143989428
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.875+17754A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143989428 | ||||||
| chr2:143989455
|
T | C | 24 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(21): Show |
intron_variant | MODIFIER | c.875+17727A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143989455 | ||||||
| chr2:143989577
|
G | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+17605C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143989577 | ||||||
| chr2:143989675
|
A | G | 24 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(21): Show |
intron_variant | MODIFIER | c.875+17507T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143989675 | ||||||
| chr2:143990075
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+17107C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990075 | ||||||
| chr2:143990090
|
C | T | 2 | a0002c0002t0029g0075a0002c0002t0030g0068 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.875+17092G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990090 | ||||||
| chr2:143990150
|
A | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.875+17032T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990150 | ||||||
| chr2:143990232
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.875+16950G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990232 | ||||||
| chr2:143990335
|
T | C | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.875+16847A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990335 | ||||||
| chr2:143990456
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+16726C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990456 | ||||||
| chr2:143990466
|
T | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+16716A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990466 | ||||||
| chr2:143990469
|
T | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.875+16713A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990469 | ||||||
| chr2:143990494
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+16688C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990494 | ||||||
| chr2:143990546
|
A | G | 5 | a0001c0001t0019g0099a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02896.hp2 HG02976.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.875+16636T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990546 | ||||||
| chr2:143990708
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.875+16474T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990708 | ||||||
| chr2:143990718
|
T | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.875+16464A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990718 | ||||||
| chr2:143990759
|
T | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.875+16423A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990759 | ||||||
| chr2:143990920
|
C | T | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.875+16262G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990920 | ||||||
| chr2:143990921
|
G | A | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+16261C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143990921 | ||||||
| chr2:143991163
|
G | A | 1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.875+16019C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991163 | ||||||
| chr2:143991166
|
C | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+16016G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991166 | ||||||
| chr2:143991297
|
T | G | 1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.875+15885A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991297 | ||||||
| chr2:143991384
|
TGGGGGGT others(42): Show |
T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+15749_875+1579 others(53): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991384 | ||||||
| chr2:143991409
|
A | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.875+15773T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991409 | ||||||
| chr2:143991461
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+15721G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991461 | ||||||
| chr2:143991462
|
G | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+15720C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991462 | ||||||
| chr2:143991587
|
C | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+15595G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991587 | ||||||
| chr2:143991616
|
C | T | 45 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(42): Show | 45 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.875+15566G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991616 | ||||||
| chr2:143991622
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.875+15560C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991622 | ||||||
| chr2:143991629
|
C | A | 1 | a0002c0002t0001g0037 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.875+15553G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991629 | ||||||
| chr2:143991713
|
TCGCCCCG others(42): Show |
T | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.875+15420_875+1546 others(53): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991713 | ||||||
| chr2:143991722
|
C | G | 1 | a0001c0001t0001g0006 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.875+15460G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991722 | ||||||
| chr2:143991752
|
G | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+15430C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991752 | ||||||
| chr2:143991756
|
C | T | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.875+15426G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991756 | ||||||
| chr2:143991835
|
A | G | 45 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(42): Show | 45 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.875+15347T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991835 | ||||||
| chr2:143991881
|
T | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+15301A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991881 | ||||||
| chr2:143991922
|
C | A | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.875+15260G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991922 | ||||||
| chr2:143991975
|
C | A | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+15207G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143991975 | ||||||
| chr2:143992021
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+15161C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992021 | ||||||
| chr2:143992061
|
T | G | 1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.875+15121A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992061 | ||||||
| chr2:143992093
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01081.hp2 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.875+15089G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992093 | ||||||
| chr2:143992179
|
T | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+15003A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992179 | ||||||
| chr2:143992487
|
C | A | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.875+14695G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992487 | ||||||
| chr2:143992605
|
T | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.875+14577A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992605 | ||||||
| chr2:143992796
|
G | A | 1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.875+14386C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992796 | ||||||
| chr2:143992887
|
G | A | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.875+14295C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143992887 | ||||||
| chr2:143993069
|
A | T | 5 | a0001c0001t0040g0102a0003c0004t0014g0083a0003c0004t0014g0087others(2): Show | 5 | HG02622.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.875+14113T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993069 | ||||||
| chr2:143993100
|
GTTAC | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+14078_875+1408 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993100 | ||||||
| chr2:143993160
|
G | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.875+14022C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993160 | ||||||
| chr2:143993313
|
T | A | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+13869A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993313 | ||||||
| chr2:143993415
|
A | G | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.875+13767T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993415 | ||||||
| chr2:143993424
|
G | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+13758C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993424 | ||||||
| chr2:143993424
|
G | T | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.875+13758C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993424 | ||||||
| chr2:143993485
|
G | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+13697C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993485 | ||||||
| chr2:143993655
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+13527C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993655 | ||||||
| chr2:143993724
|
G | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.875+13458C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993724 | ||||||
| chr2:143993879
|
A | G | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+13303T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143993879 | ||||||
| chr2:143994127
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+13055C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143994127 | ||||||
| chr2:143994136
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+13046G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143994136 | ||||||
| chr2:143994233
|
C | T | 1 | a0001c0001t0017g0018 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.875+12949G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143994233 | ||||||
| chr2:143995099
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.875+12083T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143995099 | ||||||
| chr2:143995452
|
G | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+11730C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143995452 | ||||||
| chr2:143995823
|
A | T | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.875+11359T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143995823 | ||||||
| chr2:143995833
|
A | G | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+11349T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143995833 | ||||||
| chr2:143996002
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.875+11180A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996002 | ||||||
| chr2:143996007
|
A | G | 24 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(21): Show |
intron_variant | MODIFIER | c.875+11175T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996007 | ||||||
| chr2:143996054
|
T | C | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+11128A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996054 | ||||||
| chr2:143996247
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+10935C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996247 | ||||||
| chr2:143996285
|
A | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+10897T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996285 | ||||||
| chr2:143996358
|
C | T | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.875+10824G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996358 | ||||||
| chr2:143996433
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+10749C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996433 | ||||||
| chr2:143996567
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+10615C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996567 | ||||||
| chr2:143996691
|
A | C | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+10491T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996691 | ||||||
| chr2:143996899
|
T | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+10283A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143996899 | ||||||
| chr2:143997504
|
C | T | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.875+9678G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143997504 | ||||||
| chr2:143997633
|
T | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.875+9549A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143997633 | ||||||
| chr2:143997769
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+9413T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143997769 | ||||||
| chr2:143998007
|
C | T | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.875+9175G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998007 | ||||||
| chr2:143998102
|
G | A | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.875+9080C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998102 | ||||||
| chr2:143998352
|
C | A | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+8830G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998352 | ||||||
| chr2:143998356
|
T | G | 1 | a0001c0001t0002g0094 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.875+8826A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998356 | ||||||
| chr2:143998435
|
G | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.875+8747C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998435 | ||||||
| chr2:143998436
|
G | C | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.875+8746C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998436 | ||||||
| chr2:143998436
|
G | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.875+8746C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998436 | ||||||
| chr2:143998437
|
G | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+8745C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998437 | ||||||
| chr2:143998438
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+8744C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998438 | ||||||
| chr2:143998441
|
GA | G | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+8740delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998441 | ||||||
| chr2:143998510
|
A | T | 12 | a0001c0001t0007g0047a0001c0001t0007g0059a0001c0001t0007g0093others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.875+8672T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998510 | ||||||
| chr2:143998511
|
A | T | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.875+8671T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998511 | ||||||
| chr2:143998596
|
TA | T | 7 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0021others(4): Show | 7 | HG02027.hp2 HG02155.hp2 NA18951.hp2 others(4): Show |
intron_variant | MODIFIER | c.875+8585delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998596 | ||||||
| chr2:143998830
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.875+8352C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998830 | ||||||
| chr2:143998975
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+8207A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998975 | ||||||
| chr2:143998996
|
CCAAA | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+8182_875+8185d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143998996 | ||||||
| chr2:143999248
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.875+7934G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999248 | ||||||
| chr2:143999329
|
A | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02602.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.875+7853T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999329 | ||||||
| chr2:143999424
|
T | TA | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+7757dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999424 | ||||||
| chr2:143999497
|
T | G | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+7685A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999497 | ||||||
| chr2:143999704
|
C | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+7478G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999704 | ||||||
| chr2:143999772
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+7410G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999772 | ||||||
| chr2:143999928
|
T | C | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.875+7254A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 143999928 | ||||||
| chr2:144000000
|
A | C | 1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.875+7182T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000000 | ||||||
| chr2:144000001
|
A | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+7181T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000001 | ||||||
| chr2:144000059
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+7123G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000059 | ||||||
| chr2:144000166
|
C | T | 9 | a0001c0001t0039g0046a0002c0002t0001g0050a0002c0002t0006g0048others(6): Show | 9 | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(6): Show |
intron_variant | MODIFIER | c.875+7016G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000166 | ||||||
| chr2:144000595
|
C | A | 1 | a0001c0001t0001g0071 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.875+6587G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000595 | ||||||
| chr2:144000788
|
T | C | 1 | a0002c0002t0010g0031 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.875+6394A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000788 | ||||||
| chr2:144000947
|
C | T | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(39): Show |
intron_variant | MODIFIER | c.875+6235G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144000947 | ||||||
| chr2:144001081
|
G | T | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.875+6101C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001081 | ||||||
| chr2:144001085
|
G | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+6097C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001085 | ||||||
| chr2:144001150
|
CATTG | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+6028_875+6031d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001150 | ||||||
| chr2:144001446
|
A | C | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+5736T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001446 | ||||||
| chr2:144001642
|
G | T | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+5540C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001642 | ||||||
| chr2:144001652
|
A | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.875+5530T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001652 | ||||||
| chr2:144001820
|
C | CA | 22 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+5361dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144001820 | ||||||
| chr2:144002069
|
C | T | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.875+5113G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144002069 | ||||||
| chr2:144002436
|
T | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+4746A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144002436 | ||||||
| chr2:144002804
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+4378A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144002804 | ||||||
| chr2:144003041
|
A | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.875+4141T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003041 | ||||||
| chr2:144003089
|
G | A | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.875+4093C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003089 | ||||||
| chr2:144003109
|
G | A | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.875+4073C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003109 | ||||||
| chr2:144003159
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.875+4023A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003159 | ||||||
| chr2:144003238
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.875+3944T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003238 | ||||||
| chr2:144003319
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.875+3863A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003319 | ||||||
| chr2:144003400
|
G | A | 45 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(42): Show | 45 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.875+3782C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003400 | ||||||
| chr2:144003416
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.875+3766A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003416 | ||||||
| chr2:144003518
|
A | G | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.875+3664T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003518 | ||||||
| chr2:144003962
|
A | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.875+3220T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144003962 | ||||||
| chr2:144004166
|
C | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+3016G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004166 | ||||||
| chr2:144004167
|
C | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+3015G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004167 | ||||||
| chr2:144004261
|
C | T | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02647.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.875+2921G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004261 | ||||||
| chr2:144004563
|
T | C | 6 | a0001c0001t0003g0103a0001c0001t0040g0102a0003c0004t0014g0083others(3): Show | 6 | HG02622.hp1 HG02886.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.875+2619A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004563 | ||||||
| chr2:144004566
|
A | G | 1 | a0001c0001t0001g0012 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.875+2616T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004566 | ||||||
| chr2:144004577
|
A | G | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.875+2605T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144004577 | ||||||
| chr2:144005535
|
A | G | 12 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.875+1647T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144005535 | ||||||
| chr2:144005559
|
G | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0116a0002c0002t0001g0050others(22): Show | 25 | HG00140.hp1 HG00323.hp1 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.875+1623C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144005559 | ||||||
| chr2:144005604
|
C | T | 21 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(18): Show | 21 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.875+1578G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144005604 | ||||||
| chr2:144006129
|
C | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+1053G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006129 | ||||||
| chr2:144006164
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+1018G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006164 | ||||||
| chr2:144006207
|
A | G | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+975T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006207 | ||||||
| chr2:144006330
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.875+852G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006330 | ||||||
| chr2:144006337
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.875+845G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006337 | ||||||
| chr2:144006384
|
A | C | 8 | a0001c0001t0005g0090a0001c0001t0008g0040a0001c0001t0008g0056others(5): Show | 8 | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.875+798T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006384 | ||||||
| chr2:144006481
|
C | G | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.875+701G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006481 | ||||||
| chr2:144006605
|
T | G | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.875+577A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006605 | ||||||
| chr2:144006706
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.875+476A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006706 | ||||||
| chr2:144006823
|
G | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.875+359C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144006823 | ||||||
| chr2:144007100
|
A | G | 36 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(33): Show | 36 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.875+82T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | 144007100 | ||||||
| chr2:144007743
|
T | C | 5 | a0001c0001t0003g0103a0001c0001t0040g0102a0003c0004t0014g0083others(2): Show | 5 | HG02886.hp1 HG03195.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-208A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144007743 | ||||||
| chr2:144008118
|
C | T | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.522-583G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144008118 | ||||||
| chr2:144008381
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-846T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144008381 | ||||||
| chr2:144008431
|
G | C | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-896C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144008431 | ||||||
| chr2:144008505
|
A | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-970T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144008505 | ||||||
| chr2:144009169
|
G | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-1634C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009169 | ||||||
| chr2:144009251
|
G | C | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.522-1716C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009251 | ||||||
| chr2:144009440
|
T | C | 1 | a0001c0001t0013g0096 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.522-1905A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009440 | ||||||
| chr2:144009466
|
C | A | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.522-1931G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009466 | ||||||
| chr2:144009486
|
C | G | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-1951G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009486 | ||||||
| chr2:144009929
|
A | G | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.522-2394T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144009929 | ||||||
| chr2:144010062
|
C | CA | 36 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(33): Show | 36 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.522-2528dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010062 | ||||||
| chr2:144010079
|
G | GA | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-2545dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010079 | ||||||
| chr2:144010091
|
C | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-2556G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010091 | ||||||
| chr2:144010506
|
T | C | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.522-2971A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010506 | ||||||
| chr2:144010558
|
C | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-3023G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010558 | ||||||
| chr2:144010797
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-3262G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144010797 | ||||||
| chr2:144011031
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.522-3496G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011031 | ||||||
| chr2:144011209
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.522-3674A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011209 | ||||||
| chr2:144011448
|
TTCAGCTT others(13): Show |
T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-3933_522-3914d others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011448 | ||||||
| chr2:144011632
|
T | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-4097A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011632 | ||||||
| chr2:144011640
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-4105A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011640 | ||||||
| chr2:144011640
|
T | TA | 5 | a0001c0001t0020g0080a0001c0001t0044g0095a0002c0002t0034g0119others(2): Show | 5 | HG02109.hp2 HG02622.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-4106dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011640 | ||||||
| chr2:144011640
|
T | TAAA | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.522-4108_522-4106d others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011640 | ||||||
| chr2:144011733
|
T | A | 4 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG00735.hp2 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-4198A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144011733 | ||||||
| chr2:144012505
|
G | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-4970C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144012505 | ||||||
| chr2:144012566
|
T | G | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.522-5031A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144012566 | ||||||
| chr2:144012642
|
T | C | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.522-5107A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144012642 | ||||||
| chr2:144012680
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-5145G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144012680 | ||||||
| chr2:144012822
|
A | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-5287T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144012822 | ||||||
| chr2:144013181
|
A | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-5646T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013181 | ||||||
| chr2:144013292
|
C | G | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.522-5757G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013292 | ||||||
| chr2:144013435
|
T | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-5900A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013435 | ||||||
| chr2:144013442
|
T | G | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-5907A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013442 | ||||||
| chr2:144013684
|
A | G | 1 | a0001c0001t0003g0103 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.522-6149T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013684 | ||||||
| chr2:144013833
|
A | T | 1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.522-6298T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013833 | ||||||
| chr2:144013836
|
T | A | 1 | a0001c0001t0002g0073 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.522-6301A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013836 | ||||||
| chr2:144013899
|
T | C | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.522-6364A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013899 | ||||||
| chr2:144013924
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.522-6389T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013924 | ||||||
| chr2:144013948
|
G | A | 45 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(42): Show | 45 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(42): Show |
intron_variant | MODIFIER | c.522-6413C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144013948 | ||||||
| chr2:144014066
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-6531T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144014066 | ||||||
| chr2:144014131
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-6596C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144014131 | ||||||
| chr2:144014681
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-7146A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144014681 | ||||||
| chr2:144014780
|
T | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-7245A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144014780 | ||||||
| chr2:144015234
|
C | G | 1 | a0001c0001t0001g0058 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.522-7699G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144015234 | ||||||
| chr2:144015386
|
C | A | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-7851G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144015386 | ||||||
| chr2:144015673
|
G | T | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.522-8138C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144015673 | ||||||
| chr2:144015704
|
A | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-8169T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144015704 | ||||||
| chr2:144015967
|
C | T | 2 | a0001c0001t0023g0042a0002c0002t0005g0053 | 2 | HG02258.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.522-8432G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144015967 | ||||||
| chr2:144016134
|
C | A | 1 | a0001c0001t0007g0093 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.522-8599G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016134 | ||||||
| chr2:144016197
|
T | C | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.522-8662A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016197 | ||||||
| chr2:144016707
|
T | G | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.522-9172A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016707 | ||||||
| chr2:144016802
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-9267C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016802 | ||||||
| chr2:144016803
|
G | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-9268C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016803 | ||||||
| chr2:144016849
|
C | G | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.522-9314G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016849 | ||||||
| chr2:144016893
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-9358A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144016893 | ||||||
| chr2:144017011
|
C | CT | 14 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(11): Show | 14 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.522-9477dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017011 | ||||||
| chr2:144017044
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-9509G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017044 | ||||||
| chr2:144017193
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.522-9658G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017193 | ||||||
| chr2:144017493
|
A | C | 1 | a0001c0001t0004g0020 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.522-9958T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017493 | ||||||
| chr2:144017564
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-10029C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017564 | ||||||
| chr2:144017682
|
C | T | 2 | a0001c0001t0005g0090a0003c0004t0005g0088 | 2 | HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.522-10147G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144017682 | ||||||
| chr2:144018108
|
T | A | 4 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001others(1): Show | 4 | HG02622.hp2 HG02896.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-10573A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018108 | ||||||
| chr2:144018117
|
T | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-10582A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018117 | ||||||
| chr2:144018119
|
A | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-10584T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018119 | ||||||
| chr2:144018324
|
C | CT | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-10790dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018324 | ||||||
| chr2:144018345
|
C | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-10810G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018345 | ||||||
| chr2:144018829
|
G | A | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(17): Show |
intron_variant | MODIFIER | c.522-11294C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144018829 | ||||||
| chr2:144019299
|
C | T | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.522-11764G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019299 | ||||||
| chr2:144019435
|
G | GGT | 16 | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0041others(13): Show | 16 | HG00140.hp1 HG00735.hp1 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.522-11902_522-1190 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGT | 9 | a0001c0001t0001g0072a0001c0001t0001g0112a0001c0001t0001g0115others(6): Show | 9 | HG02109.hp1 HG02630.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.522-11904_522-1190 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGTGT | 10 | a0001c0001t0001g0058a0001c0001t0001g0124a0001c0001t0020g0080others(7): Show | 10 | HG02258.hp2 HG02602.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-11906_522-1190 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGTGTG others(1): Show |
8 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0043others(5): Show | 8 | HG00408.hp2 HG01081.hp1 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.522-11908_522-1190 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGTGTG others(3): Show |
1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.522-11910_522-1190 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGTGTG others(5): Show |
4 | a0001c0001t0001g0070a0001c0001t0002g0073a0001c0001t0011g0114others(1): Show | 4 | HG00408.hp1 HG02135.hp1 HG02602.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-11912_522-1190 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
G | GGTGTGTG others(7): Show |
5 | a0001c0001t0001g0116a0001c0001t0011g0074a0001c0001t0017g0018others(2): Show | 5 | HG02559.hp1 NA18960.hp1 NA18964.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-11914_522-1190 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGT | G | 8 | a0001c0001t0001g0007a0001c0001t0001g0117a0001c0001t0005g0090others(5): Show | 8 | HG02109.hp2 HG02622.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.522-11902_522-1190 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGT | G | 3 | a0001c0001t0003g0100a0001c0001t0023g0042a0002c0002t0006g0048 | 3 | HG03017.hp2 HG03139.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.522-11904_522-1190 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGTGT | G | 3 | a0001c0001t0001g0069a0001c0001t0015g0017a0001c0001t0019g0099 | 3 | HG02027.hp1 HG03130.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.522-11906_522-1190 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGTGTG others(1): Show |
G | 4 | a0001c0001t0001g0097a0001c0001t0013g0096a0001c0001t0037g0025others(1): Show | 4 | HG00438.hp2 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-11908_522-1190 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGTGTG others(3): Show |
G | 7 | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0001g0067others(4): Show | 7 | HG00323.hp2 HG00438.hp1 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.522-11910_522-1190 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGTGTG others(7): Show |
G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02647.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-11914_522-1190 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019435
|
GGTGTGTG others(9): Show |
G | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.522-11916_522-1190 others(20): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019435 | ||||||
| chr2:144019448
|
G | A | 1 | a0002c0002t0035g0026 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.522-11913C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019448 | ||||||
| chr2:144019450
|
G | A | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.522-11915C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019450 | ||||||
| chr2:144019472
|
GTGTGTGT others(5): Show |
G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-11949_522-1193 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019472 | ||||||
| chr2:144019474
|
GTGTGTGT others(3): Show |
G | 13 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(10): Show | 13 | HG00140.hp2 HG02027.hp2 HG02155.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-11949_522-1194 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019474 | ||||||
| chr2:144019476
|
GTGTGTGT others(1): Show |
G | 3 | a0001c0001t0004g0016a0001c0001t0004g0020a0007c0009t0025g0078 | 3 | HG02886.hp1 NA18980.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.522-11949_522-1194 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019476 | ||||||
| chr2:144019478
|
GTGTGTA | G | 2 | a0001c0014t0003g0089a0002c0002t0043g0121 | 2 | HG03579.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.522-11949_522-1194 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019478 | ||||||
| chr2:144019480
|
GTGTA | G | 2 | a0001c0001t0007g0093a0001c0001t0028g0034 | 2 | HG01358.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.522-11949_522-1194 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019480 | ||||||
| chr2:144019482
|
GTA | G | 3 | a0001c0001t0003g0003a0001c0003t0003g0108a0003c0010t0001g0045 | 3 | HG02647.hp2 HG02976.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.522-11949_522-1194 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019482 | ||||||
| chr2:144019484
|
A | G | 21 | a0001c0001t0001g0008a0001c0001t0002g0073a0001c0001t0002g0094others(18): Show | 21 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(18): Show |
intron_variant | MODIFIER | c.522-11949T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019484 | ||||||
| chr2:144019511
|
C | T | 1 | a0002c0002t0010g0031 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.522-11976G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144019511 | ||||||
| chr2:144020005
|
GT | G | 41 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(38): Show |
intron_variant | MODIFIER | c.522-12471delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020005 | ||||||
| chr2:144020353
|
G | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-12818C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020353 | ||||||
| chr2:144020676
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.522-13141G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020676 | ||||||
| chr2:144020702
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-13167A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020702 | ||||||
| chr2:144020822
|
T | C | 10 | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0001g0067others(7): Show | 10 | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(7): Show |
intron_variant | MODIFIER | c.522-13287A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020822 | ||||||
| chr2:144020878
|
A | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-13343T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020878 | ||||||
| chr2:144020904
|
TA | T | 44 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(41): Show | 44 | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(41): Show |
intron_variant | MODIFIER | c.522-13370delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020904 | ||||||
| chr2:144020951
|
T | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-13416A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144020951 | ||||||
| chr2:144021027
|
C | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-13492G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021027 | ||||||
| chr2:144021028
|
A | G | 4 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-13493T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021028 | ||||||
| chr2:144021170
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-13635A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021170 | ||||||
| chr2:144021247
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-13712G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021247 | ||||||
| chr2:144021405
|
C | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-13870G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021405 | ||||||
| chr2:144021651
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-14116T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021651 | ||||||
| chr2:144021875
|
G | A | 2 | a0001c0001t0020g0080a0001c0001t0023g0042 | 2 | HG03942.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.522-14340C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021875 | ||||||
| chr2:144021888
|
C | T | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-14353G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021888 | ||||||
| chr2:144021926
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-14391C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021926 | ||||||
| chr2:144021952
|
A | T | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.522-14417T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144021952 | ||||||
| chr2:144022030
|
AG | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-14496delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022030 | ||||||
| chr2:144022501
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-14966T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022501 | ||||||
| chr2:144022560
|
C | CT | 12 | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0058others(9): Show | 12 | HG00408.hp2 HG00438.hp1 HG02027.hp1 others(9): Show |
intron_variant | MODIFIER | c.522-15026dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022560 | ||||||
| chr2:144022560
|
CT | C | 6 | a0001c0001t0001g0118a0001c0001t0004g0020a0001c0001t0041g0035others(3): Show | 6 | HG00323.hp1 HG00323.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.522-15026delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022560 | ||||||
| chr2:144022561
|
T | TC | 2 | a0001c0001t0028g0034a0003c0010t0001g0045 | 2 | HG02717.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.522-15027_522-1502 others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022561 | ||||||
| chr2:144022562
|
T | C | 16 | a0001c0001t0005g0090a0001c0001t0007g0024a0001c0001t0007g0047others(13): Show | 16 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-15027A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022562 | ||||||
| chr2:144022563
|
T | C | 1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.522-15028A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022563 | ||||||
| chr2:144022682
|
G | A | 12 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(9): Show | 12 | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.522-15147C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022682 | ||||||
| chr2:144022708
|
C | T | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-15173G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022708 | ||||||
| chr2:144022721
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-15186C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022721 | ||||||
| chr2:144022814
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.522-15279C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022814 | ||||||
| chr2:144022826
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-15291A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022826 | ||||||
| chr2:144022914
|
ATT | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-15381_522-1538 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022914 | ||||||
| chr2:144022915
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-15380A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022915 | ||||||
| chr2:144022936
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-15401G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144022936 | ||||||
| chr2:144023103
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-15568C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023103 | ||||||
| chr2:144023168
|
C | G | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-15633G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023168 | ||||||
| chr2:144023308
|
G | GA | 31 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0021others(28): Show | 31 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.522-15774dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023308 | ||||||
| chr2:144023308
|
G | GAA | 8 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0005g0090others(5): Show | 8 | HG02717.hp2 HG02896.hp2 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.522-15775_522-1577 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023308 | ||||||
| chr2:144023318
|
G | A | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-15783C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023318 | ||||||
| chr2:144023419
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-15884G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023419 | ||||||
| chr2:144023436
|
T | C | 2 | a0003c0004t0005g0088a0003c0004t0014g0083 | 2 | HG02809.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.522-15901A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023436 | ||||||
| chr2:144023650
|
A | T | 6 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-16115T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023650 | ||||||
| chr2:144023732
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-16197G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023732 | ||||||
| chr2:144023843
|
A | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.522-16308T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144023843 | ||||||
| chr2:144024128
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-16593A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024128 | ||||||
| chr2:144024284
|
T | C | 6 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-16749A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024284 | ||||||
| chr2:144024549
|
A | T | 2 | a0001c0001t0016g0009a0001c0001t0016g0044 | 2 | HG01975.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.522-17014T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024549 | ||||||
| chr2:144024589
|
G | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-17054C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024589 | ||||||
| chr2:144024637
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-17102G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024637 | ||||||
| chr2:144024684
|
C | T | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.522-17149G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024684 | ||||||
| chr2:144024687
|
T | C | 11 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(8): Show | 11 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.522-17152A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024687 | ||||||
| chr2:144024913
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-17378A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024913 | ||||||
| chr2:144024918
|
GATA | G | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-17386_522-1738 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024918 | ||||||
| chr2:144024965
|
C | T | 6 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-17430G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144024965 | ||||||
| chr2:144025023
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-17488A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144025023 | ||||||
| chr2:144025483
|
G | C | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-17948C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144025483 | ||||||
| chr2:144025647
|
T | C | 29 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(26): Show | 29 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(26): Show |
intron_variant | MODIFIER | c.522-18112A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144025647 | ||||||
| chr2:144026145
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-18610G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026145 | ||||||
| chr2:144026156
|
G | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-18621C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026156 | ||||||
| chr2:144026194
|
G | A | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-18659C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026194 | ||||||
| chr2:144026245
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-18710G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026245 | ||||||
| chr2:144026343
|
A | G | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-18808T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026343 | ||||||
| chr2:144026428
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-18893G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026428 | ||||||
| chr2:144026672
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.522-19137G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026672 | ||||||
| chr2:144026852
|
C | T | 2 | a0001c0001t0001g0032a0001c0001t0033g0019 | 2 | HG03017.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.522-19317G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026852 | ||||||
| chr2:144026886
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-19351C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144026886 | ||||||
| chr2:144027081
|
T | C | 1 | a0001c0001t0008g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.522-19546A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027081 | ||||||
| chr2:144027189
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.522-19654T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027189 | ||||||
| chr2:144027314
|
G | A | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-19779C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027314 | ||||||
| chr2:144027823
|
A | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-20288T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027823 | ||||||
| chr2:144027945
|
C | T | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.522-20410G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027945 | ||||||
| chr2:144027998
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-20463G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144027998 | ||||||
| chr2:144028010
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-20475C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144028010 | ||||||
| chr2:144028634
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-21099A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144028634 | ||||||
| chr2:144028830
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-21295G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144028830 | ||||||
| chr2:144029084
|
A | G | 121 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(118): Show | 121 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.522-21549T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029084 | ||||||
| chr2:144029256
|
A | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-21721T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029256 | ||||||
| chr2:144029648
|
T | C | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.522-22113A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029648 | ||||||
| chr2:144029706
|
A | G | 11 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(8): Show | 11 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.522-22171T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029706 | ||||||
| chr2:144029851
|
AATTAT | A | 20 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(17): Show | 20 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(17): Show |
intron_variant | MODIFIER | c.522-22321_522-2231 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029851 | ||||||
| chr2:144029914
|
G | A | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.522-22379C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029914 | ||||||
| chr2:144029969
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-22434A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144029969 | ||||||
| chr2:144030212
|
C | T | 10 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.522-22677G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030212 | ||||||
| chr2:144030353
|
T | C | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.522-22818A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030353 | ||||||
| chr2:144030544
|
A | G | 41 | a0001c0001t0001g0008a0001c0001t0002g0010a0001c0001t0002g0013others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.522-23009T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030544 | ||||||
| chr2:144030752
|
T | C | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-23217A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030752 | ||||||
| chr2:144030790
|
C | G | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-23255G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030790 | ||||||
| chr2:144030814
|
A | G | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-23279T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030814 | ||||||
| chr2:144030822
|
G | A | 57 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(54): Show | 57 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.522-23287C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030822 | ||||||
| chr2:144030870
|
G | C | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-23335C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030870 | ||||||
| chr2:144030988
|
G | A | 28 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(25): Show | 28 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.522-23453C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144030988 | ||||||
| chr2:144031016
|
G | A | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.522-23481C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031016 | ||||||
| chr2:144031191
|
AT | A | 41 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.522-23657delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031191 | ||||||
| chr2:144031228
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-23693T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031228 | ||||||
| chr2:144031383
|
T | G | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.522-23848A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031383 | ||||||
| chr2:144031817
|
T | C | 1 | a0001c0001t0008g0057 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.522-24282A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031817 | ||||||
| chr2:144031844
|
C | T | 27 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(24): Show | 27 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(24): Show |
intron_variant | MODIFIER | c.522-24309G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031844 | ||||||
| chr2:144031920
|
T | C | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-24385A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144031920 | ||||||
| chr2:144032072
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-24537G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032072 | ||||||
| chr2:144032087
|
G | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.522-24552C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032087 | ||||||
| chr2:144032186
|
T | A | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-24651A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032186 | ||||||
| chr2:144032514
|
C | T | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-24979G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032514 | ||||||
| chr2:144032691
|
C | T | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.522-25156G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032691 | ||||||
| chr2:144032830
|
A | C | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.522-25295T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144032830 | ||||||
| chr2:144033535
|
T | C | 3 | a0001c0001t0001g0049a0001c0001t0001g0067a0002c0002t0035g0026 | 3 | NA19003.hp1 NA19068.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.522-26000A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144033535 | ||||||
| chr2:144034341
|
C | T | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-26806G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144034341 | ||||||
| chr2:144034397
|
A | T | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-26862T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144034397 | ||||||
| chr2:144034462
|
T | G | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.522-26927A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144034462 | ||||||
| chr2:144034620
|
GA | G | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(24): Show | 27 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.522-27086delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144034620 | ||||||
| chr2:144034830
|
G | A | 1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.522-27295C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144034830 | ||||||
| chr2:144035012
|
T | C | 41 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.522-27477A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144035012 | ||||||
| chr2:144035594
|
C | T | 57 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(54): Show | 57 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.522-28059G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144035594 | ||||||
| chr2:144035871
|
G | A | 56 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(53): Show | 56 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.522-28336C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144035871 | ||||||
| chr2:144036183
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-28648T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036183 | ||||||
| chr2:144036198
|
T | A | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.522-28663A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036198 | ||||||
| chr2:144036235
|
C | T | 12 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(9): Show | 12 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.522-28700G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036235 | ||||||
| chr2:144036375
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.522-28840T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036375 | ||||||
| chr2:144036553
|
G | GTAC | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-29019_522-2901 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036553 | ||||||
| chr2:144036555
|
G | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-29020C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036555 | ||||||
| chr2:144036560
|
T | TGTAC | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-29026_522-2902 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036560 | ||||||
| chr2:144036731
|
C | A | 41 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.522-29196G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144036731 | ||||||
| chr2:144037130
|
T | C | 57 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(54): Show | 57 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.522-29595A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037130 | ||||||
| chr2:144037185
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.522-29650G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037185 | ||||||
| chr2:144037234
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-29699G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037234 | ||||||
| chr2:144037444
|
A | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-29909T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037444 | ||||||
| chr2:144037590
|
G | A | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-30055C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037590 | ||||||
| chr2:144037671
|
T | A | 1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.522-30136A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144037671 | ||||||
| chr2:144038106
|
G | A | 3 | a0001c0001t0004g0015a0001c0001t0004g0016a0001c0001t0004g0020 | 3 | NA18980.hp1 NA19003.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.522-30571C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038106 | ||||||
| chr2:144038109
|
C | A | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.522-30574G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038109 | ||||||
| chr2:144038228
|
T | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-30693A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038228 | ||||||
| chr2:144038312
|
C | CAT | 30 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(27): Show | 30 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(27): Show |
intron_variant | MODIFIER | c.522-30779_522-3077 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038312 | ||||||
| chr2:144038366
|
T | A | 41 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(38): Show | 41 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(38): Show |
intron_variant | MODIFIER | c.522-30831A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038366 | ||||||
| chr2:144038368
|
T | C | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.522-30833A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038368 | ||||||
| chr2:144038708
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.522-31173A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144038708 | ||||||
| chr2:144039220
|
T | C | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.522-31685A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144039220 | ||||||
| chr2:144039358
|
C | G | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-31823G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144039358 | ||||||
| chr2:144039539
|
C | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-32004G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144039539 | ||||||
| chr2:144039582
|
A | G | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.522-32047T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144039582 | ||||||
| chr2:144040094
|
T | C | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-32559A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144040094 | ||||||
| chr2:144040193
|
A | G | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.522-32658T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144040193 | ||||||
| chr2:144040471
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-32936T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144040471 | ||||||
| chr2:144040555
|
A | G | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-33020T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144040555 | ||||||
| chr2:144041151
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-33616G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041151 | ||||||
| chr2:144041242
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-33707A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041242 | ||||||
| chr2:144041491
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-33956G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041491 | ||||||
| chr2:144041627
|
G | C | 11 | a0001c0001t0001g0032a0001c0001t0001g0097a0001c0001t0005g0091others(8): Show | 11 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.522-34092C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041627 | ||||||
| chr2:144041632
|
C | T | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.522-34097G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041632 | ||||||
| chr2:144041708
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-34173G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041708 | ||||||
| chr2:144041752
|
T | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-34217A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041752 | ||||||
| chr2:144041936
|
A | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-34401T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041936 | ||||||
| chr2:144041962
|
G | A | 2 | a0001c0001t0002g0033a0001c0001t0002g0113 | 2 | HG00140.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.522-34427C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041962 | ||||||
| chr2:144041970
|
A | G | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.522-34435T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144041970 | ||||||
| chr2:144042033
|
T | C | 1 | a0001c0001t0017g0018 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.522-34498A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144042033 | ||||||
| chr2:144042267
|
G | C | 30 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(27): Show | 30 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(27): Show |
intron_variant | MODIFIER | c.522-34732C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144042267 | ||||||
| chr2:144042330
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.522-34795C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144042330 | ||||||
| chr2:144042365
|
C | T | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-34830G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144042365 | ||||||
| chr2:144042763
|
CA | C | 40 | a0001c0001t0001g0012a0001c0001t0002g0010a0001c0001t0002g0013others(37): Show | 40 | HG00140.hp2 HG00438.hp1 HG01081.hp1 others(37): Show |
intron_variant | MODIFIER | c.522-35229delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144042763 | ||||||
| chr2:144043003
|
G | A | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.522-35468C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043003 | ||||||
| chr2:144043096
|
A | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-35561T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043096 | ||||||
| chr2:144043134
|
T | C | 1 | a0001c0001t0003g0103 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.522-35599A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043134 | ||||||
| chr2:144043227
|
T | TTG | 20 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(17): Show | 20 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(17): Show |
intron_variant | MODIFIER | c.522-35694_522-3569 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
T | TTGTG | 26 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(23): Show | 26 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.522-35696_522-3569 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
T | TTGTGTG | 2 | a0001c0003t0018g0084a0003c0010t0001g0045 | 2 | HG02976.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.522-35698_522-3569 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
T | TTGTGTGT others(1): Show |
4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-35700_522-3569 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
T | TTGTGTGT others(3): Show |
6 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(3): Show | 6 | HG00735.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.522-35702_522-3569 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
T | TTGTGTGT others(5): Show |
1 | a0001c0001t0001g0115 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.522-35704_522-3569 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043227
|
TTGTG | T | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0014t0003g0089others(2): Show | 5 | HG02717.hp2 HG02976.hp2 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-35696_522-3569 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043227 | ||||||
| chr2:144043395
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-35860C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043395 | ||||||
| chr2:144043619
|
T | C | 63 | a0001c0001t0001g0008a0001c0001t0001g0115a0001c0001t0001g0116others(60): Show | 63 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.522-36084A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043619 | ||||||
| chr2:144043632
|
C | CA | 18 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(15): Show | 18 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.522-36098dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043632 | ||||||
| chr2:144043632
|
CA | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-36098delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043632 | ||||||
| chr2:144043683
|
C | T | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.522-36148G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043683 | ||||||
| chr2:144043859
|
G | A | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.522-36324C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144043859 | ||||||
| chr2:144044065
|
C | T | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-36530G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144044065 | ||||||
| chr2:144044112
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-36577A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144044112 | ||||||
| chr2:144044344
|
T | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-36809A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144044344 | ||||||
| chr2:144044494
|
T | C | 2 | a0001c0001t0002g0010a0001c0001t0002g0022 | 2 | HG04184.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.522-36959A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144044494 | ||||||
| chr2:144045420
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.522-37885G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045420 | ||||||
| chr2:144045427
|
G | C | 14 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(11): Show | 14 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.522-37892C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045427 | ||||||
| chr2:144045489
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-37954G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045489 | ||||||
| chr2:144045551
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.522-38016A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045551 | ||||||
| chr2:144045679
|
G | A | 57 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(54): Show | 57 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.522-38144C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045679 | ||||||
| chr2:144045771
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-38236T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045771 | ||||||
| chr2:144045979
|
T | C | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-38444A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144045979 | ||||||
| chr2:144046388
|
A | G | 31 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(28): Show | 31 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(28): Show |
intron_variant | MODIFIER | c.522-38853T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144046388 | ||||||
| chr2:144046696
|
ACTT | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-39164_522-3916 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144046696 | ||||||
| chr2:144046742
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-39207A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144046742 | ||||||
| chr2:144046808
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.522-39273C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144046808 | ||||||
| chr2:144046854
|
T | G | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.522-39319A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144046854 | ||||||
| chr2:144047279
|
T | TA | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-39745dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047279 | ||||||
| chr2:144047397
|
G | T | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-39862C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047397 | ||||||
| chr2:144047483
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.522-39948G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047483 | ||||||
| chr2:144047597
|
A | G | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-40062T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047597 | ||||||
| chr2:144047621
|
C | G | 56 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(53): Show | 56 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.522-40086G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047621 | ||||||
| chr2:144047834
|
T | G | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.522-40299A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047834 | ||||||
| chr2:144047890
|
T | C | 1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.522-40355A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144047890 | ||||||
| chr2:144048152
|
G | C | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-40617C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048152 | ||||||
| chr2:144048248
|
A | G | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.522-40713T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048248 | ||||||
| chr2:144048379
|
A | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-40844T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048379 | ||||||
| chr2:144048585
|
T | C | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.522-41050A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048585 | ||||||
| chr2:144048599
|
A | T | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.522-41064T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048599 | ||||||
| chr2:144048738
|
T | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.522-41203A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048738 | ||||||
| chr2:144048806
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-41271C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048806 | ||||||
| chr2:144048819
|
T | TAC | 2 | a0001c0001t0020g0080a0002c0002t0006g0061 | 2 | HG01358.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.522-41286_522-4128 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048819 | ||||||
| chr2:144048819
|
TACACAC | T | 56 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(53): Show | 56 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.522-41290_522-4128 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144048819 | ||||||
| chr2:144049216
|
C | T | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.522-41681G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144049216 | ||||||
| chr2:144049536
|
C | T | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.522-42001G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144049536 | ||||||
| chr2:144049585
|
G | A | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-42050C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144049585 | ||||||
| chr2:144050146
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-42611G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050146 | ||||||
| chr2:144050205
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-42670A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050205 | ||||||
| chr2:144050489
|
A | G | 1 | a0001c0001t0004g0020 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.522-42954T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050489 | ||||||
| chr2:144050781
|
G | GCA | 6 | a0001c0001t0020g0080a0001c0001t0028g0034a0003c0004t0005g0088others(3): Show | 6 | HG02717.hp1 HG02809.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.522-43248_522-4324 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050781 | ||||||
| chr2:144050781
|
G | GCACA | 6 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.522-43250_522-4324 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050781 | ||||||
| chr2:144050781
|
G | GCACACAC others(1): Show |
9 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(6): Show | 9 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.522-43254_522-4324 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050781 | ||||||
| chr2:144050781
|
G | GCACACAC others(3): Show |
1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.522-43256_522-4324 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144050781 | ||||||
| chr2:144051410
|
T | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-43875A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051410 | ||||||
| chr2:144051625
|
A | G | 2 | a0001c0001t0008g0056a0001c0001t0008g0057 | 2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.522-44090T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051625 | ||||||
| chr2:144051692
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.522-44157C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051692 | ||||||
| chr2:144051751
|
C | T | 3 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087 | 3 | HG02809.hp1 HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.522-44216G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051751 | ||||||
| chr2:144051825
|
G | A | 1 | a0001c0001t0017g0018 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.522-44290C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051825 | ||||||
| chr2:144051829
|
G | A | 1 | a0001c0001t0008g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.522-44294C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144051829 | ||||||
| chr2:144052111
|
T | C | 1 | a0001c0001t0001g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.522-44576A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052111 | ||||||
| chr2:144052184
|
A | G | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-44649T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052184 | ||||||
| chr2:144052600
|
G | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-45065C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052600 | ||||||
| chr2:144052625
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-45090T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052625 | ||||||
| chr2:144052682
|
G | A | 1 | a0001c0001t0002g0073 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.522-45147C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052682 | ||||||
| chr2:144052714
|
C | A | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-45179G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052714 | ||||||
| chr2:144052767
|
T | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-45232A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052767 | ||||||
| chr2:144052851
|
A | ATG | 2 | a0001c0001t0020g0080a0001c0001t0044g0095 | 2 | HG02723.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.522-45317_522-4531 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144052851 | ||||||
| chr2:144053038
|
G | A | 21 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.522-45503C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053038 | ||||||
| chr2:144053343
|
A | T | 3 | a0001c0003t0003g0107a0001c0003t0003g0108a0002c0005t0001g0029 | 3 | HG02896.hp2 HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.522-45808T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053343 | ||||||
| chr2:144053737
|
C | T | 3 | a0001c0001t0002g0073a0001c0001t0002g0094a0001c0001t0007g0093 | 3 | HG01358.hp1 HG01975.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.522-46202G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053737 | ||||||
| chr2:144053738
|
G | A | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.522-46203C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053738 | ||||||
| chr2:144053779
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-46244C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053779 | ||||||
| chr2:144053983
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-46448G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144053983 | ||||||
| chr2:144054042
|
G | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-46507C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144054042 | ||||||
| chr2:144054056
|
T | G | 3 | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0067 | 3 | HG04199.hp2 NA19003.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.522-46521A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144054056 | ||||||
| chr2:144054656
|
T | C | 2 | a0001c0001t0020g0080a0001c0001t0044g0095 | 2 | HG02723.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.522-47121A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144054656 | ||||||
| chr2:144054978
|
T | A | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.522-47443A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144054978 | ||||||
| chr2:144055104
|
C | T | 1 | a0002c0002t0006g0061 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.522-47569G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055104 | ||||||
| chr2:144055111
|
G | A | 14 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(11): Show | 14 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.522-47576C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055111 | ||||||
| chr2:144055219
|
C | A | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.522-47684G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055219 | ||||||
| chr2:144055326
|
G | C | 1 | a0001c0001t0002g0021 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.522-47791C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055326 | ||||||
| chr2:144055328
|
C | G | 1 | a0001c0001t0002g0021 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.522-47793G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055328 | ||||||
| chr2:144055334
|
G | C | 1 | a0001c0001t0002g0021 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.522-47799C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
G | GAC | 17 | a0001c0001t0001g0008a0001c0001t0001g0070a0001c0001t0001g0071others(14): Show | 17 | HG00408.hp1 HG01081.hp1 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.522-47801_522-4780 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
G | GACAC | 9 | a0001c0001t0001g0032a0001c0001t0002g0013a0001c0001t0002g0014others(6): Show | 9 | HG02896.hp1 HG03017.hp1 NA18951.hp2 others(6): Show |
intron_variant | MODIFIER | c.522-47803_522-4780 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
G | GACACAC | 10 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0023others(7): Show | 10 | HG00438.hp1 HG01358.hp1 HG01975.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-47805_522-4780 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
G | GACACACA others(1): Show |
2 | a0001c0001t0033g0019a0001c0003t0036g0106 | 2 | HG02723.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.522-47807_522-4780 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
G | GACACACA others(3): Show |
1 | a0001c0001t0002g0113 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.522-47809_522-4780 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
GAC | G | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-47801_522-4780 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055334
|
GACACACA others(1): Show |
G | 2 | a0001c0001t0020g0080a0001c0001t0044g0095 | 2 | HG02723.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.522-47807_522-4780 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055334 | ||||||
| chr2:144055342
|
C | G | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.522-47807G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055342 | ||||||
| chr2:144055575
|
G | A | 2 | a0001c0001t0001g0012a0001c0001t0001g0112 | 2 | HG03490.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.522-48040C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055575 | ||||||
| chr2:144055713
|
C | T | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-48178G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055713 | ||||||
| chr2:144055852
|
A | G | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-48317T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144055852 | ||||||
| chr2:144056095
|
G | A | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.522-48560C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144056095 | ||||||
| chr2:144056804
|
G | A | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-49269C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144056804 | ||||||
| chr2:144057080
|
T | C | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.522-49545A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057080 | ||||||
| chr2:144057234
|
A | G | 1 | a0002c0002t0031g0054 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.522-49699T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057234 | ||||||
| chr2:144057345
|
G | A | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.522-49810C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057345 | ||||||
| chr2:144057542
|
A | G | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.522-50007T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057542 | ||||||
| chr2:144057573
|
G | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.522-50038C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057573 | ||||||
| chr2:144057676
|
A | G | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.522-50141T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057676 | ||||||
| chr2:144057825
|
C | A | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.522-50290G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144057825 | ||||||
| chr2:144058092
|
A | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-50557T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058092 | ||||||
| chr2:144058111
|
A | AC | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02559.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-50577dupG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058111 | ||||||
| chr2:144058115
|
C | A | 11 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(8): Show | 11 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.522-50580G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058115 | ||||||
| chr2:144058116
|
CCT | C | 21 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(18): Show | 21 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(18): Show |
intron_variant | MODIFIER | c.522-50583_522-5058 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058116 | ||||||
| chr2:144058117
|
CT | C | 15 | a0001c0001t0002g0021a0001c0001t0007g0024a0001c0001t0007g0047others(12): Show | 15 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.522-50583delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058117 | ||||||
| chr2:144058118
|
T | C | 22 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(19): Show | 22 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-50583A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058118 | ||||||
| chr2:144058121
|
C | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-50586G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058121 | ||||||
| chr2:144058129
|
G | A | 2 | a0001c0001t0008g0057a0002c0002t0035g0026 | 2 | HG03453.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.522-50594C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058129 | ||||||
| chr2:144058133
|
A | AAC | 13 | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0043others(10): Show | 13 | HG00323.hp1 HG00408.hp2 HG02027.hp1 others(10): Show |
intron_variant | MODIFIER | c.522-50600_522-5059 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058133 | ||||||
| chr2:144058133
|
AAC | A | 34 | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0002g0013others(31): Show | 34 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.522-50600_522-5059 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058133 | ||||||
| chr2:144058133
|
AACAC | A | 3 | a0001c0001t0028g0034a0001c0003t0036g0106a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02717.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.522-50602_522-5059 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058133 | ||||||
| chr2:144058133
|
AACACAC | A | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-50604_522-5059 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058133 | ||||||
| chr2:144058427
|
T | A | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-50892A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058427 | ||||||
| chr2:144058555
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.522-51020A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058555 | ||||||
| chr2:144058685
|
AG | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.522-51151delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144058685 | ||||||
| chr2:144059004
|
G | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.522-51469C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059004 | ||||||
| chr2:144059095
|
C | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-51560G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059095 | ||||||
| chr2:144059213
|
T | A | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-51678A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059213 | ||||||
| chr2:144059267
|
T | A | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.522-51732A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059267 | ||||||
| chr2:144059409
|
T | A | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.522-51874A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059409 | ||||||
| chr2:144059421
|
A | G | 12 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(9): Show | 12 | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.522-51886T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059421 | ||||||
| chr2:144059504
|
T | C | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-51969A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059504 | ||||||
| chr2:144059720
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.522-52185A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059720 | ||||||
| chr2:144059748
|
C | T | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.522-52213G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059748 | ||||||
| chr2:144059811
|
G | A | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.522-52276C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144059811 | ||||||
| chr2:144060114
|
C | T | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.522-52579G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144060114 | ||||||
| chr2:144060418
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-52883C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144060418 | ||||||
| chr2:144060771
|
C | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-53236G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144060771 | ||||||
| chr2:144061084
|
A | G | 3 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089 | 3 | HG02976.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.522-53549T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061084 | ||||||
| chr2:144061148
|
T | A | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-53613A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061148 | ||||||
| chr2:144061271
|
G | T | 58 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(55): Show | 58 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.522-53736C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061271 | ||||||
| chr2:144061353
|
C | T | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.522-53818G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061353 | ||||||
| chr2:144061590
|
T | C | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.522-54055A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061590 | ||||||
| chr2:144061679
|
C | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-54144G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061679 | ||||||
| chr2:144061715
|
G | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.522-54180C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061715 | ||||||
| chr2:144061792
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-54257G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144061792 | ||||||
| chr2:144062306
|
C | T | 13 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.522-54771G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144062306 | ||||||
| chr2:144062315
|
T | G | 121 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(118): Show | 121 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.522-54780A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144062315 | ||||||
| chr2:144062490
|
A | G | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(39): Show |
intron_variant | MODIFIER | c.522-54955T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144062490 | ||||||
| chr2:144062657
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-55122C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144062657 | ||||||
| chr2:144063704
|
G | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.522-56169C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144063704 | ||||||
| chr2:144063855
|
G | C | 1 | a0001c0001t0019g0099 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.522-56320C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144063855 | ||||||
| chr2:144064451
|
A | C | 10 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.522-56916T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144064451 | ||||||
| chr2:144064718
|
A | C | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-57183T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144064718 | ||||||
| chr2:144064770
|
C | T | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.522-57235G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144064770 | ||||||
| chr2:144064936
|
G | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-57401C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144064936 | ||||||
| chr2:144064957
|
G | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-57422C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144064957 | ||||||
| chr2:144065504
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-57969C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144065504 | ||||||
| chr2:144065672
|
A | C | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.522-58137T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144065672 | ||||||
| chr2:144065762
|
C | CT | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-58228dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144065762 | ||||||
| chr2:144065762
|
CT | C | 9 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.522-58228delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144065762 | ||||||
| chr2:144065901
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.522-58366A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144065901 | ||||||
| chr2:144066082
|
T | C | 61 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(58): Show | 61 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.522-58547A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066082 | ||||||
| chr2:144066224
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-58689A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066224 | ||||||
| chr2:144066432
|
T | C | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.522-58897A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066432 | ||||||
| chr2:144066473
|
C | G | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.522-58938G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066473 | ||||||
| chr2:144066547
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.522-59012C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066547 | ||||||
| chr2:144066552
|
A | C | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.522-59017T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066552 | ||||||
| chr2:144066888
|
A | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-59353T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066888 | ||||||
| chr2:144066958
|
G | A | 2 | a0002c0002t0029g0075a0002c0002t0030g0068 | 2 | HG03942.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.522-59423C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144066958 | ||||||
| chr2:144067599
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.522-60064C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144067599 | ||||||
| chr2:144067831
|
T | C | 61 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(58): Show | 61 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.522-60296A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144067831 | ||||||
| chr2:144068190
|
G | A | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.522-60655C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144068190 | ||||||
| chr2:144068407
|
T | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.522-60872A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144068407 | ||||||
| chr2:144068964
|
C | T | 94 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(91): Show | 94 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(91): Show |
intron_variant | MODIFIER | c.522-61429G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144068964 | ||||||
| chr2:144068994
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-61459C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144068994 | ||||||
| chr2:144069103
|
T | C | 2 | a0001c0001t0002g0094a0001c0001t0007g0093 | 2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.522-61568A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144069103 | ||||||
| chr2:144069297
|
CA | C | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.522-61763delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144069297 | ||||||
| chr2:144069495
|
T | A | 29 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(26): Show | 29 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(26): Show |
intron_variant | MODIFIER | c.522-61960A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144069495 | ||||||
| chr2:144069686
|
G | A | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.522-62151C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144069686 | ||||||
| chr2:144070072
|
G | A | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.522-62537C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144070072 | ||||||
| chr2:144071274
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-63739G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144071274 | ||||||
| chr2:144071579
|
G | C | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.522-64044C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144071579 | ||||||
| chr2:144071644
|
G | A | 58 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(55): Show | 58 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.522-64109C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144071644 | ||||||
| chr2:144072468
|
C | T | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.522-64933G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144072468 | ||||||
| chr2:144072494
|
G | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.522-64959C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144072494 | ||||||
| chr2:144072713
|
A | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-65178T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144072713 | ||||||
| chr2:144073024
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.522-65489A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073024 | ||||||
| chr2:144073075
|
C | T | 4 | a0002c0002t0001g0060a0002c0002t0010g0030a0002c0002t0010g0031others(1): Show | 4 | HG02155.hp1 HG02602.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-65540G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073075 | ||||||
| chr2:144073204
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-65669C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073204 | ||||||
| chr2:144073655
|
T | A | 2 | a0002c0002t0006g0061a0002c0002t0006g0076 | 2 | HG01109.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.522-66120A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073655 | ||||||
| chr2:144073859
|
C | T | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-66324G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073859 | ||||||
| chr2:144073906
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-66371A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144073906 | ||||||
| chr2:144074152
|
T | A | 4 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-66617A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144074152 | ||||||
| chr2:144074550
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-67015C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144074550 | ||||||
| chr2:144074603
|
G | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.522-67068C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144074603 | ||||||
| chr2:144074835
|
C | CA | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+67046dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144074835 | ||||||
| chr2:144074940
|
T | G | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+66942A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144074940 | ||||||
| chr2:144075050
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+66832G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075050 | ||||||
| chr2:144075314
|
T | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+66568A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075314 | ||||||
| chr2:144075510
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+66372A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075510 | ||||||
| chr2:144075877
|
G | A | 1 | a0002c0002t0002g0005 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.521+66005C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075877 | ||||||
| chr2:144075963
|
T | C | 5 | a0001c0001t0002g0094a0001c0001t0007g0093a0002c0002t0011g0039others(2): Show | 5 | HG00738.hp2 HG01358.hp1 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+65919A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075963 | ||||||
| chr2:144075967
|
T | C | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+65915A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075967 | ||||||
| chr2:144075971
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+65911C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144075971 | ||||||
| chr2:144076031
|
G | A | 14 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(11): Show | 14 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.521+65851C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144076031 | ||||||
| chr2:144076107
|
C | T | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.521+65775G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144076107 | ||||||
| chr2:144076118
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+65764C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144076118 | ||||||
| chr2:144076210
|
G | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+65672C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144076210 | ||||||
| chr2:144076907
|
C | T | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.521+64975G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144076907 | ||||||
| chr2:144077013
|
T | C | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.521+64869A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077013 | ||||||
| chr2:144077050
|
CA | C | 57 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(54): Show | 57 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.521+64831delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077050 | ||||||
| chr2:144077050
|
CAA | C | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02559.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.521+64830_521+6483 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077050 | ||||||
| chr2:144077142
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+64740A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077142 | ||||||
| chr2:144077481
|
A | T | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+64401T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077481 | ||||||
| chr2:144077491
|
T | C | 1 | a0002c0002t0009g0038 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.521+64391A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144077491 | ||||||
| chr2:144078014
|
A | AG | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.521+63867_521+6386 others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144078014 | ||||||
| chr2:144078607
|
C | G | 1 | a0002c0002t0031g0054 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.521+63275G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144078607 | ||||||
| chr2:144078804
|
C | T | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+63078G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144078804 | ||||||
| chr2:144078919
|
G | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+62963C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144078919 | ||||||
| chr2:144078953
|
C | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+62929G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144078953 | ||||||
| chr2:144079050
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+62832A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144079050 | ||||||
| chr2:144079151
|
C | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+62731G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144079151 | ||||||
| chr2:144079602
|
T | C | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.521+62280A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144079602 | ||||||
| chr2:144080606
|
G | A | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.521+61276C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144080606 | ||||||
| chr2:144080826
|
TAAGAATC others(4): Show |
T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+61045_521+6105 others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144080826 | ||||||
| chr2:144080952
|
T | G | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.521+60930A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144080952 | ||||||
| chr2:144081555
|
A | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+60327T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144081555 | ||||||
| chr2:144081829
|
G | A | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.521+60053C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144081829 | ||||||
| chr2:144082783
|
G | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+59099C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144082783 | ||||||
| chr2:144082889
|
C | T | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.521+58993G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144082889 | ||||||
| chr2:144082890
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+58992C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144082890 | ||||||
| chr2:144083003
|
G | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+58879C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144083003 | ||||||
| chr2:144083584
|
T | G | 43 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(40): Show | 43 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(40): Show |
intron_variant | MODIFIER | c.521+58298A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144083584 | ||||||
| chr2:144083801
|
CGAA | C | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.521+58078_521+5808 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144083801 | ||||||
| chr2:144083876
|
A | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+58006T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144083876 | ||||||
| chr2:144084112
|
T | G | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.521+57770A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144084112 | ||||||
| chr2:144084819
|
A | ACTTTCAG others(45): Show |
1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+57062_521+5706 others(56): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144084819 | ||||||
| chr2:144084821
|
A | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+57061T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144084821 | ||||||
| chr2:144085671
|
G | C | 43 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(40): Show | 43 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(40): Show |
intron_variant | MODIFIER | c.521+56211C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144085671 | ||||||
| chr2:144085837
|
T | C | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+56045A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144085837 | ||||||
| chr2:144085925
|
G | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+55957C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144085925 | ||||||
| chr2:144086461
|
A | G | 2 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.521+55421T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144086461 | ||||||
| chr2:144086554
|
C | T | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.521+55328G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144086554 | ||||||
| chr2:144086612
|
C | T | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.521+55270G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144086612 | ||||||
| chr2:144086690
|
A | G | 1 | a0001c0001t0013g0096 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.521+55192T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144086690 | ||||||
| chr2:144087002
|
C | A | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.521+54880G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144087002 | ||||||
| chr2:144087424
|
C | T | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+54458G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144087424 | ||||||
| chr2:144087477
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+54405A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144087477 | ||||||
| chr2:144087757
|
A | G | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.521+54125T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144087757 | ||||||
| chr2:144087839
|
T | C | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+54043A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144087839 | ||||||
| chr2:144088047
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+53835A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088047 | ||||||
| chr2:144088260
|
C | G | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.521+53622G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088260 | ||||||
| chr2:144088349
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+53533T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088349 | ||||||
| chr2:144088360
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+53522A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088360 | ||||||
| chr2:144088420
|
C | T | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.521+53462G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088420 | ||||||
| chr2:144088523
|
G | A | 94 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(91): Show | 94 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(91): Show |
intron_variant | MODIFIER | c.521+53359C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088523 | ||||||
| chr2:144088541
|
G | A | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.521+53341C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088541 | ||||||
| chr2:144088682
|
C | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+53200G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088682 | ||||||
| chr2:144088896
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.521+52986A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144088896 | ||||||
| chr2:144089939
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.521+51943C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144089939 | ||||||
| chr2:144089962
|
T | A | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.521+51920A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144089962 | ||||||
| chr2:144090023
|
A | T | 3 | a0001c0001t0015g0011a0001c0001t0015g0017a0001c0001t0037g0025 | 3 | HG00438.hp2 HG00738.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.521+51859T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144090023 | ||||||
| chr2:144090117
|
G | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+51765C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144090117 | ||||||
| chr2:144090542
|
A | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+51340T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144090542 | ||||||
| chr2:144090562
|
T | G | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+51320A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144090562 | ||||||
| chr2:144090577
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+51305G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144090577 | ||||||
| chr2:144091009
|
C | T | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.521+50873G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091009 | ||||||
| chr2:144091362
|
A | G | 1 | a0001c0001t0001g0027 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.521+50520T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091362 | ||||||
| chr2:144091471
|
G | C | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+50411C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091471 | ||||||
| chr2:144091671
|
C | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+50211G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091671 | ||||||
| chr2:144091730
|
T | C | 1 | a0001c0001t0019g0099 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.521+50152A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091730 | ||||||
| chr2:144091826
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+50056A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091826 | ||||||
| chr2:144091988
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+49894A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144091988 | ||||||
| chr2:144092177
|
CT | C | 18 | a0001c0001t0001g0008a0001c0001t0001g0115a0001c0001t0001g0116others(15): Show | 18 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.521+49704delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092177 | ||||||
| chr2:144092198
|
CAG | C | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001 | 3 | HG02622.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.521+49682_521+4968 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092198 | ||||||
| chr2:144092401
|
T | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+49481A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092401 | ||||||
| chr2:144092402
|
C | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+49480G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092402 | ||||||
| chr2:144092403
|
C | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+49479G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092403 | ||||||
| chr2:144092404
|
T | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+49478A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092404 | ||||||
| chr2:144092417
|
C | T | 27 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(24): Show | 27 | HG00408.hp1 HG00735.hp2 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.521+49465G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092417 | ||||||
| chr2:144092515
|
T | C | 1 | a0001c0001t0008g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.521+49367A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092515 | ||||||
| chr2:144092796
|
A | G | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.521+49086T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092796 | ||||||
| chr2:144092868
|
G | GGT | 10 | a0001c0001t0002g0073a0001c0001t0002g0094a0001c0001t0007g0093others(7): Show | 10 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+49013_521+4901 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
G | GGTGT | 11 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0113others(8): Show | 11 | HG00140.hp2 HG02809.hp1 HG03139.hp2 others(8): Show |
intron_variant | MODIFIER | c.521+49013_521+4901 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
G | GGTGTGT | 11 | a0001c0001t0001g0122a0001c0001t0002g0013a0001c0001t0002g0014others(8): Show | 11 | HG00735.hp2 HG02622.hp1 HG02886.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+49013_521+4901 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
G | GGTGTGTG others(1): Show |
10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG02027.hp2 HG02055.hp2 HG02155.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+49013_521+4901 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
G | GGTGTGTG others(3): Show |
1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.521+49013_521+4901 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
G | GGTGTGTG others(5): Show |
1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.521+49013_521+4901 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
GGGGT | G | 3 | a0001c0001t0024g0123a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02109.hp1 HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+49010_521+4901 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092868
|
GGGGTGTG others(5): Show |
G | 10 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+49002_521+4901 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092868 | ||||||
| chr2:144092870
|
G | GGT | 14 | a0001c0001t0005g0091a0001c0001t0015g0011a0001c0001t0015g0017others(11): Show | 14 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(11): Show |
intron_variant | MODIFIER | c.521+49010_521+4901 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
G | GGTGT | 17 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 17 | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.521+49008_521+4901 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
G | GGTGTGT | 12 | a0001c0001t0001g0027a0001c0001t0001g0032a0001c0001t0001g0049others(9): Show | 12 | HG00323.hp2 HG01081.hp2 HG02027.hp1 others(9): Show |
intron_variant | MODIFIER | c.521+49006_521+4901 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
G | GGTGTGTG others(3): Show |
2 | a0001c0001t0001g0072a0001c0001t0003g0100 | 2 | HG03139.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.521+49002_521+4901 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
G | GGTGTGTG others(5): Show |
1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.521+49000_521+4901 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
G | T | 45 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(42): Show | 45 | HG00140.hp2 HG00735.hp2 HG01243.hp2 others(42): Show |
intron_variant | MODIFIER | c.521+49012C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092870
|
GGTGTGTG others(7): Show |
G | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.521+48998_521+4901 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092870 | ||||||
| chr2:144092966
|
C | T | 1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.521+48916G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144092966 | ||||||
| chr2:144093275
|
G | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.521+48607C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144093275 | ||||||
| chr2:144093531
|
C | T | 1 | a0001c0001t0001g0071 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.521+48351G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144093531 | ||||||
| chr2:144093736
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+48146C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144093736 | ||||||
| chr2:144093817
|
A | G | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+48065T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144093817 | ||||||
| chr2:144094136
|
C | T | 24 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.521+47746G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144094136 | ||||||
| chr2:144094254
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+47628A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144094254 | ||||||
| chr2:144094403
|
G | A | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+47479C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144094403 | ||||||
| chr2:144094429
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+47453G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144094429 | ||||||
| chr2:144094702
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.521+47180C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144094702 | ||||||
| chr2:144095006
|
C | T | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.521+46876G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144095006 | ||||||
| chr2:144095543
|
T | C | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+46339A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144095543 | ||||||
| chr2:144095837
|
G | A | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.521+46045C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144095837 | ||||||
| chr2:144095968
|
C | A | 5 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(2): Show | 5 | HG00735.hp2 HG02559.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.521+45914G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144095968 | ||||||
| chr2:144095980
|
A | G | 12 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(9): Show | 12 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+45902T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144095980 | ||||||
| chr2:144096018
|
A | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+45864T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096018 | ||||||
| chr2:144096049
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+45833G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096049 | ||||||
| chr2:144096218
|
G | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+45664C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096218 | ||||||
| chr2:144096514
|
G | C | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.521+45368C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096514 | ||||||
| chr2:144096642
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+45240C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096642 | ||||||
| chr2:144096684
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+45198A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096684 | ||||||
| chr2:144096895
|
A | G | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.521+44987T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144096895 | ||||||
| chr2:144097207
|
G | C | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.521+44675C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144097207 | ||||||
| chr2:144097901
|
A | G | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.521+43981T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144097901 | ||||||
| chr2:144098477
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+43405C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098477 | ||||||
| chr2:144098714
|
C | CA | 4 | a0001c0001t0001g0072a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG03453.hp2 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+43167dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098714 | ||||||
| chr2:144098714
|
CA | C | 6 | a0001c0001t0004g0020a0001c0001t0005g0090a0001c0001t0016g0009others(3): Show | 6 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.521+43167delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098714 | ||||||
| chr2:144098847
|
GA | G | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.521+43034delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098847 | ||||||
| chr2:144098912
|
C | T | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.521+42970G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098912 | ||||||
| chr2:144098933
|
T | C | 10 | a0002c0002t0001g0060a0002c0002t0006g0048a0002c0002t0006g0061others(7): Show | 10 | HG00140.hp1 HG01109.hp1 HG01358.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+42949A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144098933 | ||||||
| chr2:144099051
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+42831T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144099051 | ||||||
| chr2:144099493
|
A | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.521+42389T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144099493 | ||||||
| chr2:144099610
|
C | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+42272G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144099610 | ||||||
| chr2:144099759
|
A | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+42123T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144099759 | ||||||
| chr2:144099838
|
T | C | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+42044A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144099838 | ||||||
| chr2:144100008
|
G | A | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.521+41874C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100008 | ||||||
| chr2:144100361
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.521+41521A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100361 | ||||||
| chr2:144100460
|
G | A | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.521+41422C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100460 | ||||||
| chr2:144100519
|
T | C | 12 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(9): Show | 12 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+41363A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100519 | ||||||
| chr2:144100859
|
C | CT | 12 | a0001c0001t0001g0008a0001c0001t0001g0067a0001c0001t0001g0072others(9): Show | 12 | HG00323.hp2 HG00738.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.521+41022dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100859 | ||||||
| chr2:144100859
|
CT | C | 20 | a0001c0001t0001g0122a0001c0001t0002g0094a0001c0001t0007g0024others(17): Show | 20 | HG00408.hp1 HG00438.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.521+41022delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100859 | ||||||
| chr2:144100859
|
CTT | C | 26 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(23): Show | 26 | HG00140.hp2 HG02027.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.521+41021_521+4102 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100859 | ||||||
| chr2:144100859
|
CTTT | C | 12 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(9): Show | 12 | HG01243.hp2 HG02055.hp2 HG02155.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+41020_521+4102 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100859 | ||||||
| chr2:144100863
|
T | C | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.521+41019A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100863 | ||||||
| chr2:144100998
|
T | C | 3 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089 | 3 | HG02976.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.521+40884A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144100998 | ||||||
| chr2:144101090
|
G | A | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+40792C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101090 | ||||||
| chr2:144101104
|
G | A | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.521+40778C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101104 | ||||||
| chr2:144101215
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(10): Show | 13 | HG00408.hp2 HG00735.hp1 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.521+40667C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101215 | ||||||
| chr2:144101385
|
A | ATCTC | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+40493_521+4049 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101385 | ||||||
| chr2:144101394
|
T | TCA | 13 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0058others(10): Show | 13 | HG00738.hp2 HG01109.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.521+40486_521+4048 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101394 | ||||||
| chr2:144101394
|
T | TCTCTCTC others(5): Show |
5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+40487_521+4048 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101394 | ||||||
| chr2:144101394
|
T | TCTCTCTC others(9): Show |
4 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 4 | HG00735.hp2 HG02922.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+40487_521+4048 others(20): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101394 | ||||||
| chr2:144101394
|
T | TCTCTCTC others(11): Show |
1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.521+40487_521+4048 others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101394 | ||||||
| chr2:144101394
|
TCA | T | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(39): Show |
intron_variant | MODIFIER | c.521+40486_521+4048 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101394 | ||||||
| chr2:144101398
|
A | T | 42 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(39): Show | 42 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(39): Show |
intron_variant | MODIFIER | c.521+40484T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101398 | ||||||
| chr2:144101440
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+40442A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101440 | ||||||
| chr2:144101843
|
T | C | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.521+40039A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101843 | ||||||
| chr2:144101896
|
T | C | 7 | a0001c0001t0001g0032a0001c0001t0005g0091a0001c0001t0015g0011others(4): Show | 7 | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.521+39986A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101896 | ||||||
| chr2:144101921
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+39961G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144101921 | ||||||
| chr2:144102007
|
A | G | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.521+39875T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102007 | ||||||
| chr2:144102024
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+39858T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102024 | ||||||
| chr2:144102215
|
G | A | 1 | a0004c0006t0026g0081 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.521+39667C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102215 | ||||||
| chr2:144102290
|
G | A | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+39592C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102290 | ||||||
| chr2:144102655
|
C | A | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.521+39227G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102655 | ||||||
| chr2:144102660
|
T | C | 3 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087 | 3 | HG02809.hp1 HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.521+39222A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102660 | ||||||
| chr2:144102785
|
T | C | 6 | a0001c0001t0005g0090a0001c0001t0020g0080a0001c0003t0003g0107others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.521+39097A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102785 | ||||||
| chr2:144102852
|
C | T | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.521+39030G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102852 | ||||||
| chr2:144102854
|
A | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+39028T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102854 | ||||||
| chr2:144102938
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.521+38944T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144102938 | ||||||
| chr2:144103129
|
G | C | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.521+38753C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103129 | ||||||
| chr2:144103260
|
C | T | 2 | a0002c0002t0001g0051a0002c0002t0031g0054 | 2 | HG03492.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.521+38622G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103260 | ||||||
| chr2:144103338
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+38544C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103338 | ||||||
| chr2:144103401
|
G | A | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.521+38481C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103401 | ||||||
| chr2:144103402
|
T | C | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+38480A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103402 | ||||||
| chr2:144103596
|
G | C | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.521+38286C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103596 | ||||||
| chr2:144103621
|
T | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+38261A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103621 | ||||||
| chr2:144103650
|
A | G | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+38232T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103650 | ||||||
| chr2:144103741
|
A | T | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.521+38141T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103741 | ||||||
| chr2:144103815
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+38067G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144103815 | ||||||
| chr2:144104111
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+37771C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104111 | ||||||
| chr2:144104249
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+37633C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104249 | ||||||
| chr2:144104394
|
G | A | 5 | a0001c0001t0005g0090a0001c0001t0020g0080a0001c0003t0003g0107others(2): Show | 5 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.521+37488C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104394 | ||||||
| chr2:144104468
|
C | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+37414G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104468 | ||||||
| chr2:144104507
|
T | G | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.521+37375A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104507 | ||||||
| chr2:144104561
|
G | A | 43 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(40): Show | 43 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(40): Show |
intron_variant | MODIFIER | c.521+37321C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104561 | ||||||
| chr2:144104566
|
G | A | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.521+37316C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104566 | ||||||
| chr2:144104592
|
G | A | 12 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(9): Show | 12 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+37290C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104592 | ||||||
| chr2:144104616
|
G | A | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.521+37266C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104616 | ||||||
| chr2:144104997
|
A | G | 120 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(117): Show | 120 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.521+36885T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104997 | ||||||
| chr2:144104998
|
G | A | 5 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(2): Show | 5 | HG00735.hp2 HG02559.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.521+36884C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144104998 | ||||||
| chr2:144105046
|
C | G | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.521+36836G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105046 | ||||||
| chr2:144105126
|
T | C | 4 | a0001c0001t0002g0073a0001c0001t0002g0094a0001c0001t0007g0093others(1): Show | 4 | HG00438.hp1 HG01358.hp1 HG01975.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+36756A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105126 | ||||||
| chr2:144105197
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+36685G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105197 | ||||||
| chr2:144105227
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.521+36655G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105227 | ||||||
| chr2:144105251
|
C | T | 1 | a0001c0001t0001g0097 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.521+36631G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105251 | ||||||
| chr2:144105329
|
C | T | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.521+36553G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105329 | ||||||
| chr2:144105390
|
AG | A | 2 | a0001c0001t0012g0092a0001c0001t0012g0111 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.521+36491delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105390 | ||||||
| chr2:144105392
|
T | A | 2 | a0001c0001t0012g0092a0001c0001t0012g0111 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.521+36490A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105392 | ||||||
| chr2:144105462
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+36420G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105462 | ||||||
| chr2:144105558
|
T | A | 16 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(13): Show | 16 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.521+36324A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105558 | ||||||
| chr2:144105706
|
C | T | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+36176G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105706 | ||||||
| chr2:144105786
|
C | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+36096G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105786 | ||||||
| chr2:144105895
|
C | G | 12 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(9): Show | 12 | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+35987G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144105895 | ||||||
| chr2:144106059
|
A | G | 1 | a0001c0001t0004g0016 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.521+35823T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144106059 | ||||||
| chr2:144106172
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+35710G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144106172 | ||||||
| chr2:144106721
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+35161A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144106721 | ||||||
| chr2:144106787
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+35095T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144106787 | ||||||
| chr2:144107156
|
A | G | 12 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(9): Show | 12 | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+34726T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107156 | ||||||
| chr2:144107219
|
G | A | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+34663C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107219 | ||||||
| chr2:144107354
|
T | C | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+34528A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107354 | ||||||
| chr2:144107421
|
A | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+34461T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107421 | ||||||
| chr2:144107431
|
C | T | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.521+34451G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107431 | ||||||
| chr2:144107533
|
C | T | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(24): Show | 27 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.521+34349G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107533 | ||||||
| chr2:144107702
|
T | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+34180A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107702 | ||||||
| chr2:144107791
|
G | C | 15 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(12): Show | 15 | HG00140.hp2 HG02027.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.521+34091C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107791 | ||||||
| chr2:144107976
|
G | T | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.521+33906C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144107976 | ||||||
| chr2:144108056
|
C | G | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.521+33826G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108056 | ||||||
| chr2:144108062
|
T | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+33820A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108062 | ||||||
| chr2:144108187
|
A | C | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.521+33695T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108187 | ||||||
| chr2:144108199
|
T | C | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+33683A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108199 | ||||||
| chr2:144108282
|
G | A | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+33600C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108282 | ||||||
| chr2:144108593
|
T | A | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+33289A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108593 | ||||||
| chr2:144108633
|
G | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+33249C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108633 | ||||||
| chr2:144108635
|
C | CTCAATTA others(23): Show |
12 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(9): Show | 12 | HG00735.hp2 HG02559.hp1 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.521+33217_521+3324 others(34): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108635 | ||||||
| chr2:144108635
|
C | CTCAATTA others(23): Show |
2 | a0001c0001t0008g0057a0001c0001t0008g0104 | 2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.521+33246_521+3324 others(34): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108635 | ||||||
| chr2:144108641
|
TA | T | 10 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+33240delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108641 | ||||||
| chr2:144108642
|
A | AAAAAAAA others(22): Show |
1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.521+33239_521+3324 others(33): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108642 | ||||||
| chr2:144108646
|
A | CAAAAAAA others(23): Show |
2 | a0001c0001t0008g0040a0001c0001t0008g0056 | 2 | HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.521+33236_521+3323 others(34): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108646 | ||||||
| chr2:144108774
|
T | C | 6 | a0001c0001t0005g0090a0001c0001t0020g0080a0001c0003t0003g0107others(3): Show | 6 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.521+33108A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108774 | ||||||
| chr2:144108895
|
A | G | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.521+32987T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144108895 | ||||||
| chr2:144109051
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+32831C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109051 | ||||||
| chr2:144109177
|
G | T | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.521+32705C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109177 | ||||||
| chr2:144109337
|
G | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+32545C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109337 | ||||||
| chr2:144109714
|
C | T | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+32168G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109714 | ||||||
| chr2:144109782
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+32100T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109782 | ||||||
| chr2:144109792
|
G | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+32090C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109792 | ||||||
| chr2:144109793
|
A | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+32089T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144109793 | ||||||
| chr2:144110001
|
G | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.521+31881C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110001 | ||||||
| chr2:144110189
|
T | C | 1 | a0001c0001t0013g0096 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.521+31693A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110189 | ||||||
| chr2:144110679
|
A | AC | 13 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0041others(10): Show | 13 | HG00735.hp1 HG01109.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.521+31202dupG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110679 | ||||||
| chr2:144110688
|
CA | C | 29 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(26): Show | 29 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(26): Show |
intron_variant | MODIFIER | c.521+31193delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110688 | ||||||
| chr2:144110688
|
CAA | C | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+31192_521+3119 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110688 | ||||||
| chr2:144110689
|
A | C | 28 | a0001c0001t0004g0016a0001c0001t0005g0090a0001c0001t0007g0024others(25): Show | 28 | HG00323.hp1 HG00408.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.521+31193T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110689 | ||||||
| chr2:144110690
|
A | C | 21 | a0001c0001t0005g0090a0001c0001t0007g0024a0001c0001t0007g0047others(18): Show | 21 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(18): Show |
intron_variant | MODIFIER | c.521+31192T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110690 | ||||||
| chr2:144110691
|
A | C | 17 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(14): Show | 17 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+31191T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110691 | ||||||
| chr2:144110729
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+31153G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110729 | ||||||
| chr2:144110800
|
C | A | 12 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(9): Show | 12 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+31082G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110800 | ||||||
| chr2:144110990
|
T | C | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.521+30892A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144110990 | ||||||
| chr2:144111037
|
T | G | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.521+30845A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111037 | ||||||
| chr2:144111166
|
C | CA | 13 | a0001c0001t0004g0016a0001c0001t0005g0090a0001c0001t0007g0024others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(10): Show |
intron_variant | MODIFIER | c.521+30715dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111166 | ||||||
| chr2:144111174
|
C | T | 3 | a0001c0001t0002g0023a0001c0003t0036g0106a0001c0003t0046g0109 | 3 | HG01243.hp2 HG02027.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.521+30708G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111174 | ||||||
| chr2:144111288
|
T | C | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.521+30594A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111288 | ||||||
| chr2:144111477
|
G | A | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(24): Show | 27 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.521+30405C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111477 | ||||||
| chr2:144111794
|
C | T | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+30088G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144111794 | ||||||
| chr2:144112017
|
T | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG00438.hp1 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.521+29865A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112017 | ||||||
| chr2:144112361
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+29521C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112361 | ||||||
| chr2:144112459
|
G | C | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.521+29423C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112459 | ||||||
| chr2:144112601
|
C | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+29281G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112601 | ||||||
| chr2:144112612
|
C | T | 3 | a0001c0001t0020g0080a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.521+29270G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112612 | ||||||
| chr2:144112793
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+29089G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144112793 | ||||||
| chr2:144113402
|
T | C | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.521+28480A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144113402 | ||||||
| chr2:144113574
|
G | A | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.521+28308C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144113574 | ||||||
| chr2:144113677
|
C | G | 50 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(47): Show | 50 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(47): Show |
intron_variant | MODIFIER | c.521+28205G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144113677 | ||||||
| chr2:144114194
|
A | G | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.521+27688T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114194 | ||||||
| chr2:144114305
|
G | A | 49 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(46): Show | 49 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(46): Show |
intron_variant | MODIFIER | c.521+27577C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114305 | ||||||
| chr2:144114439
|
G | T | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+27443C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114439 | ||||||
| chr2:144114487
|
A | T | 47 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(44): Show | 47 | HG00140.hp2 HG00408.hp1 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.521+27395T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114487 | ||||||
| chr2:144114685
|
T | TACAAA | 37 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(34): Show | 37 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(34): Show |
intron_variant | MODIFIER | c.521+27192_521+2719 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114685 | ||||||
| chr2:144114685
|
T | TACAAAAC others(3): Show |
16 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(13): Show | 16 | HG00438.hp1 HG01358.hp1 HG01975.hp1 others(13): Show |
intron_variant | MODIFIER | c.521+27187_521+2719 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114685 | ||||||
| chr2:144114685
|
T | TACAAAAC others(8): Show |
4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+27182_521+2719 others(19): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114685 | ||||||
| chr2:144114685
|
TACAAA | T | 19 | a0001c0001t0001g0008a0001c0001t0001g0115a0001c0001t0001g0116others(16): Show | 19 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(16): Show |
intron_variant | MODIFIER | c.521+27192_521+2719 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114685 | ||||||
| chr2:144114685
|
TACAAAAC others(3): Show |
T | 14 | a0001c0001t0004g0016a0001c0001t0005g0090a0001c0001t0007g0024others(11): Show | 14 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(11): Show |
intron_variant | MODIFIER | c.521+27187_521+2719 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114685 | ||||||
| chr2:144114775
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+27107G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114775 | ||||||
| chr2:144114910
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+26972A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144114910 | ||||||
| chr2:144115217
|
C | T | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.521+26665G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115217 | ||||||
| chr2:144115232
|
A | AAAC | 4 | a0001c0001t0001g0049a0001c0001t0001g0067a0001c0001t0001g0069others(1): Show | 4 | HG02027.hp1 NA19003.hp1 NA19068.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+26647_521+2664 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115232 | ||||||
| chr2:144115232
|
AAAC | A | 57 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(54): Show | 57 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.521+26647_521+2664 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115232 | ||||||
| chr2:144115275
|
C | A | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+26607G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115275 | ||||||
| chr2:144115278
|
T | G | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.521+26604A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115278 | ||||||
| chr2:144115681
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+26201A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144115681 | ||||||
| chr2:144116348
|
A | ATG | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.521+25532_521+2553 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144116348 | ||||||
| chr2:144116722
|
C | A | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.521+25160G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144116722 | ||||||
| chr2:144116844
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+25038G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144116844 | ||||||
| chr2:144116948
|
G | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+24934C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144116948 | ||||||
| chr2:144117186
|
C | T | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+24696G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144117186 | ||||||
| chr2:144117226
|
T | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+24656A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144117226 | ||||||
| chr2:144117567
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+24315G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144117567 | ||||||
| chr2:144117686
|
T | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+24196A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144117686 | ||||||
| chr2:144117910
|
C | A | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+23972G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144117910 | ||||||
| chr2:144118151
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+23731T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118151 | ||||||
| chr2:144118283
|
T | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+23599A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118283 | ||||||
| chr2:144118423
|
T | G | 5 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(2): Show | 5 | HG02055.hp2 HG02622.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+23459A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118423 | ||||||
| chr2:144118456
|
A | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+23426T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118456 | ||||||
| chr2:144118750
|
G | A | 1 | a0001c0001t0008g0056 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.521+23132C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118750 | ||||||
| chr2:144118786
|
C | T | 18 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(15): Show | 18 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(15): Show |
intron_variant | MODIFIER | c.521+23096G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144118786 | ||||||
| chr2:144119060
|
T | C | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.521+22822A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119060 | ||||||
| chr2:144119137
|
C | T | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+22745G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119137 | ||||||
| chr2:144119252
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+22630T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119252 | ||||||
| chr2:144119304
|
A | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+22578T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119304 | ||||||
| chr2:144119685
|
A | G | 10 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+22197T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119685 | ||||||
| chr2:144119707
|
T | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+22175A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119707 | ||||||
| chr2:144119843
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+22039C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119843 | ||||||
| chr2:144119876
|
C | CAAAAAA | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+22000_521+2200 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144119876 | ||||||
| chr2:144120239
|
T | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+21643A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120239 | ||||||
| chr2:144120314
|
G | A | 1 | a0001c0001t0008g0056 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.521+21568C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120314 | ||||||
| chr2:144120320
|
C | A | 1 | a0001c0001t0001g0058 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.521+21562G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120320 | ||||||
| chr2:144120503
|
A | G | 2 | a0001c0001t0002g0010a0001c0001t0002g0022 | 2 | HG04184.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.521+21379T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120503 | ||||||
| chr2:144120903
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+20979G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120903 | ||||||
| chr2:144120915
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+20967G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144120915 | ||||||
| chr2:144121016
|
A | G | 7 | a0002c0002t0001g0050a0002c0002t0001g0051a0002c0002t0001g0066others(4): Show | 7 | HG00323.hp1 HG02258.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.521+20866T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144121016 | ||||||
| chr2:144121028
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+20854C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144121028 | ||||||
| chr2:144121500
|
T | C | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.521+20382A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144121500 | ||||||
| chr2:144121735
|
G | A | 10 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+20147C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144121735 | ||||||
| chr2:144121949
|
G | C | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+19933C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144121949 | ||||||
| chr2:144122093
|
G | T | 14 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(11): Show | 14 | HG00408.hp2 HG00735.hp1 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.521+19789C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144122093 | ||||||
| chr2:144122284
|
C | A | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.521+19598G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144122284 | ||||||
| chr2:144122598
|
T | C | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.521+19284A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144122598 | ||||||
| chr2:144122948
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.521+18934C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144122948 | ||||||
| chr2:144123068
|
A | AAATT | 12 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(9): Show | 12 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.521+18813_521+1881 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144123068 | ||||||
| chr2:144123460
|
T | C | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.521+18422A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144123460 | ||||||
| chr2:144124162
|
C | A | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+17720G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144124162 | ||||||
| chr2:144124217
|
T | C | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.521+17665A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144124217 | ||||||
| chr2:144124342
|
A | G | 2 | a0002c0002t0010g0063a0002c0002t0035g0026 | 2 | HG02155.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.521+17540T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144124342 | ||||||
| chr2:144124606
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+17276C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144124606 | ||||||
| chr2:144124676
|
C | T | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.521+17206G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144124676 | ||||||
| chr2:144125360
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+16522C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144125360 | ||||||
| chr2:144125381
|
G | A | 1 | a0001c0001t0001g0115 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.521+16501C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144125381 | ||||||
| chr2:144125393
|
T | C | 24 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(21): Show | 24 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.521+16489A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144125393 | ||||||
| chr2:144125566
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.521+16316G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144125566 | ||||||
| chr2:144126065
|
T | G | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.521+15817A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126065 | ||||||
| chr2:144126073
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+15809A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126073 | ||||||
| chr2:144126121
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+15761G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126121 | ||||||
| chr2:144126348
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+15534A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126348 | ||||||
| chr2:144126404
|
T | C | 1 | a0001c0001t0002g0094 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.521+15478A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126404 | ||||||
| chr2:144126463
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+15419A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126463 | ||||||
| chr2:144126706
|
T | C | 2 | a0001c0003t0036g0106a0001c0003t0046g0109 | 2 | HG01243.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.521+15176A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126706 | ||||||
| chr2:144126801
|
G | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+15081C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126801 | ||||||
| chr2:144126932
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+14950A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144126932 | ||||||
| chr2:144127292
|
A | C | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.521+14590T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144127292 | ||||||
| chr2:144127616
|
G | A | 1 | a0001c0001t0004g0015 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.521+14266C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144127616 | ||||||
| chr2:144127800
|
A | T | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.521+14082T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144127800 | ||||||
| chr2:144127885
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+13997A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144127885 | ||||||
| chr2:144127943
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+13939A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144127943 | ||||||
| chr2:144128164
|
T | A | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+13718A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128164 | ||||||
| chr2:144128250
|
T | TC | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+13631dupG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128250 | ||||||
| chr2:144128561
|
G | C | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.521+13321C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128561 | ||||||
| chr2:144128705
|
T | C | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.521+13177A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128705 | ||||||
| chr2:144128815
|
G | A | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.521+13067C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128815 | ||||||
| chr2:144128927
|
A | AC | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.521+12954dupG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144128927 | ||||||
| chr2:144129108
|
A | G | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.521+12774T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144129108 | ||||||
| chr2:144129151
|
A | G | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+12731T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144129151 | ||||||
| chr2:144129438
|
T | C | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.521+12444A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144129438 | ||||||
| chr2:144129641
|
T | C | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.521+12241A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144129641 | ||||||
| chr2:144130092
|
GA | G | 15 | a0001c0001t0001g0008a0001c0001t0004g0016a0001c0001t0007g0024others(12): Show | 15 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.521+11789delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144130092 | ||||||
| chr2:144130092
|
GAA | G | 13 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(10): Show | 13 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.521+11788_521+1178 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144130092 | ||||||
| chr2:144132010
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+9872A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132010 | ||||||
| chr2:144132156
|
G | A | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.521+9726C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132156 | ||||||
| chr2:144132258
|
C | A | 34 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(31): Show | 34 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(31): Show |
intron_variant | MODIFIER | c.521+9624G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132258 | ||||||
| chr2:144132441
|
A | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+9441T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132441 | ||||||
| chr2:144132621
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.521+9261G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132621 | ||||||
| chr2:144132623
|
G | A | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+9259C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132623 | ||||||
| chr2:144132664
|
T | C | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.521+9218A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132664 | ||||||
| chr2:144132718
|
GA | G | 3 | a0001c0001t0015g0011a0001c0001t0015g0017a0001c0001t0037g0025 | 3 | HG00438.hp2 HG00738.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.521+9163delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132718 | ||||||
| chr2:144132921
|
TTTCAATT others(20): Show |
T | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+8934_521+8960d others(29): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144132921 | ||||||
| chr2:144133114
|
GT | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8767delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133114 | ||||||
| chr2:144133115
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8767A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133115 | ||||||
| chr2:144133116
|
A | AAT | 6 | a0001c0001t0001g0067a0002c0002t0010g0030a0002c0002t0010g0063others(3): Show | 6 | HG02155.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.521+8764_521+8765d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
A | AATAT | 3 | a0001c0001t0003g0100a0001c0001t0013g0062a0002c0002t0011g0039 | 3 | HG00738.hp2 HG01081.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.521+8762_521+8765d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
A | AATATATA others(7): Show |
1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.521+8752_521+8765d others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
A | ATATATTT others(72): Show |
1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8765_521+8766i others(81): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
AAT | A | 8 | a0001c0001t0001g0006a0001c0001t0003g0103a0001c0001t0019g0099others(5): Show | 8 | HG01109.hp1 HG01109.hp2 HG01358.hp2 others(5): Show |
intron_variant | MODIFIER | c.521+8764_521+8765d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
AATAT | A | 17 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0032others(14): Show | 17 | HG00408.hp2 HG00735.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+8762_521+8765d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
AATATAT | A | 4 | a0001c0001t0001g0097a0001c0001t0013g0096a0001c0001t0015g0011others(1): Show | 4 | HG00323.hp2 HG00738.hp1 HG02055.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+8760_521+8765d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133116
|
AATATATA others(15): Show |
A | 7 | a0002c0002t0001g0050a0002c0002t0001g0051a0002c0002t0001g0066others(4): Show | 7 | HG00323.hp1 HG02258.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.521+8744_521+8765d others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133116 | ||||||
| chr2:144133123
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8759T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133123 | ||||||
| chr2:144133124
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8758A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133124 | ||||||
| chr2:144133130
|
TATATATA others(14): Show |
T | 11 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(8): Show | 11 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.521+8731_521+8751d others(23): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133130 | ||||||
| chr2:144133131
|
AT | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8750delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133131 | ||||||
| chr2:144133133
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8749T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133133 | ||||||
| chr2:144133134
|
TATATATA others(10): Show |
T | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+8731_521+8747d others(19): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133134 | ||||||
| chr2:144133135
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8747T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133135 | ||||||
| chr2:144133138
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8744A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133138 | ||||||
| chr2:144133138
|
TATATATA others(6): Show |
T | 18 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(15): Show | 18 | HG00140.hp2 HG01243.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.521+8731_521+8743d others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133138 | ||||||
| chr2:144133140
|
TATATATA others(4): Show |
T | 8 | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0001t0002g0073others(5): Show | 8 | HG00438.hp1 HG01358.hp1 HG01975.hp1 others(5): Show |
intron_variant | MODIFIER | c.521+8731_521+8741d others(13): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133140 | ||||||
| chr2:144133142
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8740A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133142 | ||||||
| chr2:144133144
|
TATATATA | T | 3 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108 | 3 | HG02717.hp2 HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.521+8731_521+8737d others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133144 | ||||||
| chr2:144133147
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8735T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133147 | ||||||
| chr2:144133149
|
AT | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8732delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133149 | ||||||
| chr2:144133150
|
T | A | 2 | a0001c0001t0003g0103a0001c0001t0040g0102 | 2 | HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.521+8732A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133150 | ||||||
| chr2:144133151
|
A | ATATAT | 2 | a0001c0001t0003g0003a0005c0012t0003g0120 | 2 | HG02647.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.521+8730_521+8731i others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.521+8730_521+8731i others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(13): Show |
1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.521+8730_521+8731i others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(4): Show |
2 | a0001c0001t0001g0008a0001c0003t0001g0105 | 2 | HG02922.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.521+8730_521+8731i others(13): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(15): Show |
1 | a0003c0004t0005g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.521+8730_521+8731i others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(6): Show |
1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+8730_521+8731i others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(17): Show |
2 | a0003c0004t0014g0083a0003c0004t0014g0087 | 2 | HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.521+8730_521+8731i others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | ATATATAT others(14): Show |
1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.521+8730_521+8731i others(23): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133151
|
A | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8731T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133151 | ||||||
| chr2:144133153
|
T | A | 3 | a0001c0003t0018g0084a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.521+8729A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133153 | ||||||
| chr2:144133155
|
T | A | 29 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(26): Show | 29 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.521+8727A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133155 | ||||||
| chr2:144133156
|
AATAT | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8722_521+8725d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133156 | ||||||
| chr2:144133161
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8721T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133161 | ||||||
| chr2:144133167
|
T | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8715A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133167 | ||||||
| chr2:144133170
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8712T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133170 | ||||||
| chr2:144133173
|
A | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8709T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133173 | ||||||
| chr2:144133176
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8706T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133176 | ||||||
| chr2:144133178
|
AT | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8703delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133178 | ||||||
| chr2:144133182
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8700T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133182 | ||||||
| chr2:144133188
|
A | T | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+8694T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133188 | ||||||
| chr2:144133189
|
ATT | A | 3 | a0001c0003t0018g0084a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.521+8691_521+8692d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133189 | ||||||
| chr2:144133191
|
T | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8691A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133191 | ||||||
| chr2:144133191
|
T | TTA | 26 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(23): Show | 26 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.521+8689_521+8690d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133191 | ||||||
| chr2:144133191
|
TTA | T | 4 | a0001c0001t0001g0097a0001c0001t0013g0096a0001c0001t0044g0095others(1): Show | 4 | HG00738.hp2 HG02055.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+8689_521+8690d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133191 | ||||||
| chr2:144133193
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8689T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133193 | ||||||
| chr2:144133199
|
ATATATT | A | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+8677_521+8682d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133199 | ||||||
| chr2:144133214
|
C | CATATATA others(37): Show |
1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.521+8624_521+8667d others(46): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133214 | ||||||
| chr2:144133227
|
A | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+8655T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133227 | ||||||
| chr2:144133231
|
T | TATATTTA others(23): Show |
1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+8650_521+8651i others(32): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133231 | ||||||
| chr2:144133233
|
ATATT | A | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.521+8645_521+8648d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133233 | ||||||
| chr2:144133237
|
TTATATAT others(3): Show |
T | 36 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(33): Show | 36 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.521+8635_521+8644d others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133237 | ||||||
| chr2:144133237
|
TTATATAT others(13): Show |
T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+8625_521+8644d others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133237 | ||||||
| chr2:144133247
|
A | ATATATAT others(7): Show |
1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+8634_521+8635i others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133247 | ||||||
| chr2:144133247
|
A | ATATATAT others(31): Show |
1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+8634_521+8635i others(40): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133247 | ||||||
| chr2:144133247
|
A | T | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+8635T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133247 | ||||||
| chr2:144133289
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8593T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133289 | ||||||
| chr2:144133290
|
T | C | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.521+8592A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133290 | ||||||
| chr2:144133328
|
C | A | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.521+8554G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133328 | ||||||
| chr2:144133386
|
ATATAT | A | 9 | a0002c0002t0001g0060a0002c0002t0006g0048a0002c0002t0006g0061others(6): Show | 9 | HG00140.hp1 HG01109.hp1 HG01358.hp2 others(6): Show |
intron_variant | MODIFIER | c.521+8491_521+8495d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133386 | ||||||
| chr2:144133405
|
A | T | 1 | a0001c0001t0015g0011 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.521+8477T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133405 | ||||||
| chr2:144133411
|
TTATATAT others(2): Show |
T | 25 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(22): Show | 25 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.521+8462_521+8470d others(11): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133411 | ||||||
| chr2:144133412
|
T | A | 6 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(3): Show | 6 | HG02559.hp2 HG02809.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.521+8470A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133412 | ||||||
| chr2:144133421
|
TATATATA | T | 12 | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0032others(9): Show | 12 | HG00408.hp2 HG01358.hp2 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.521+8454_521+8460d others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133421 | ||||||
| chr2:144133443
|
ATATATAA others(44): Show |
A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+8388_521+8438d others(53): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133443 | ||||||
| chr2:144133450
|
A | T | 39 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(36): Show | 39 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.521+8432T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133450 | ||||||
| chr2:144133450
|
ATATATAA others(7): Show |
A | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.521+8418_521+8431d others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133450 | ||||||
| chr2:144133451
|
TATATA | T | 7 | a0001c0001t0007g0024a0001c0001t0007g0047a0001c0001t0007g0059others(4): Show | 7 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.521+8426_521+8430d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133451 | ||||||
| chr2:144133453
|
TATA | T | 39 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(36): Show | 39 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.521+8426_521+8428d others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133453 | ||||||
| chr2:144133455
|
T | TATATTAT others(18): Show |
1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.521+8426_521+8427i others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133455 | ||||||
| chr2:144133456
|
A | AAT | 2 | a0001c0001t0004g0016a0001c0001t0028g0034 | 2 | HG02717.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.521+8424_521+8425d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133456 | ||||||
| chr2:144133456
|
A | ATT | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+8425_521+8426i others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133456 | ||||||
| chr2:144133456
|
A | ATTAT | 5 | a0001c0001t0044g0095a0003c0010t0001g0045a0004c0006t0001g0082others(2): Show | 5 | HG02559.hp2 HG02630.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.521+8425_521+8426i others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133456 | ||||||
| chr2:144133456
|
A | T | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.521+8426T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133456 | ||||||
| chr2:144133464
|
T | A | 1 | a0001c0001t0003g0103 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.521+8418A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133464 | ||||||
| chr2:144133470
|
AT | A | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.521+8411delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133470 | ||||||
| chr2:144133471
|
T | A | 2 | a0001c0001t0001g0049a0001c0001t0001g0067 | 2 | NA19003.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.521+8411A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133471 | ||||||
| chr2:144133471
|
T | TATAATAT others(19): Show |
1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+8410_521+8411i others(28): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133471 | ||||||
| chr2:144133471
|
T | TATATAAT others(21): Show |
1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.521+8410_521+8411i others(30): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133471 | ||||||
| chr2:144133486
|
A | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.521+8396T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133486 | ||||||
| chr2:144133539
|
G | T | 94 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(91): Show | 94 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(91): Show |
intron_variant | MODIFIER | c.521+8343C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133539 | ||||||
| chr2:144133893
|
C | T | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+7989G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144133893 | ||||||
| chr2:144134136
|
T | A | 35 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(32): Show | 35 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.521+7746A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134136 | ||||||
| chr2:144134137
|
C | A | 35 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(32): Show | 35 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.521+7745G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134137 | ||||||
| chr2:144134195
|
T | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+7687A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134195 | ||||||
| chr2:144134540
|
G | C | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.521+7342C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134540 | ||||||
| chr2:144134791
|
T | G | 13 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(10): Show | 13 | HG00408.hp2 HG00735.hp1 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.521+7091A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134791 | ||||||
| chr2:144134954
|
C | T | 1 | a0001c0003t0003g0107 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.521+6928G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144134954 | ||||||
| chr2:144135180
|
G | T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.521+6702C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135180 | ||||||
| chr2:144135351
|
T | C | 2 | a0001c0001t0001g0058a0001c0001t0001g0069 | 2 | HG02027.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.521+6531A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135351 | ||||||
| chr2:144135412
|
A | T | 1 | a0002c0002t0010g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.521+6470T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135412 | ||||||
| chr2:144135606
|
C | T | 1 | a0002c0002t0010g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.521+6276G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135606 | ||||||
| chr2:144135716
|
A | G | 2 | a0001c0001t0002g0094a0001c0001t0007g0093 | 2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.521+6166T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135716 | ||||||
| chr2:144135932
|
T | C | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.521+5950A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135932 | ||||||
| chr2:144135971
|
A | G | 27 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(24): Show | 27 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.521+5911T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144135971 | ||||||
| chr2:144136229
|
G | A | 1 | a0002c0002t0032g0001 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.521+5653C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136229 | ||||||
| chr2:144136256
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+5626C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136256 | ||||||
| chr2:144136329
|
A | C | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.521+5553T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136329 | ||||||
| chr2:144136363
|
A | AGAAAAG | 2 | a0001c0001t0003g0100a0001c0003t0018g0084 | 2 | HG03139.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.521+5513_521+5518d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136363 | ||||||
| chr2:144136363
|
AGAAAAG | A | 4 | a0001c0001t0001g0012a0001c0001t0001g0112a0002c0002t0006g0061others(1): Show | 4 | HG01109.hp1 HG01358.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+5513_521+5518d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136363 | ||||||
| chr2:144136393
|
G | GAAAAGGA others(27): Show |
1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+5488_521+5489i others(36): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136393 | ||||||
| chr2:144136395
|
A | AAAAGG | 14 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0032others(11): Show | 14 | HG00408.hp1 HG00735.hp1 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.521+5482_521+5486d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(34): Show |
2 | a0001c0001t0002g0033a0001c0001t0002g0113 | 2 | HG00140.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(43): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(3): Show |
17 | a0001c0001t0004g0016a0001c0001t0007g0047a0001c0001t0028g0034others(14): Show | 17 | HG01081.hp1 HG01358.hp2 HG02109.hp2 others(14): Show |
intron_variant | MODIFIER | c.521+5477_521+5486d others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(8): Show |
20 | a0001c0001t0003g0003a0001c0001t0003g0103a0001c0001t0007g0059others(17): Show | 20 | HG00323.hp1 HG01109.hp1 HG02630.hp2 others(17): Show |
intron_variant | MODIFIER | c.521+5472_521+5486d others(17): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(13): Show |
5 | a0001c0001t0003g0100a0001c0001t0007g0024a0002c0002t0001g0060others(2): Show | 5 | HG00140.hp1 HG02602.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+5467_521+5486d others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(18): Show |
5 | a0001c0001t0001g0008a0001c0003t0001g0105a0002c0002t0005g0053others(2): Show | 5 | HG02258.hp1 HG02630.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+5462_521+5486d others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(23): Show |
2 | a0001c0001t0005g0090a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.521+5457_521+5486d others(32): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(28): Show |
17 | a0001c0001t0002g0010a0001c0001t0002g0021a0001c0001t0002g0022others(14): Show | 17 | HG00438.hp1 HG01243.hp2 HG01358.hp1 others(14): Show |
intron_variant | MODIFIER | c.521+5452_521+5486d others(37): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(33): Show |
4 | a0001c0001t0002g0014a0001c0001t0004g0020a0001c0001t0016g0009others(1): Show | 4 | HG00738.hp2 NA18980.hp2 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.521+5447_521+5486d others(42): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(38): Show |
2 | a0001c0001t0002g0013a0001c0001t0002g0023 | 2 | HG02027.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(47): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAAGGAA others(43): Show |
3 | a0001c0001t0004g0055a0001c0001t0017g0018a0001c0003t0036g0106 | 3 | HG02723.hp1 HG02896.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(52): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAGGAAA others(12): Show |
1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+5486_521+5487i others(21): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAGGAAA others(27): Show |
1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.521+5486_521+5487i others(36): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAGGAAA others(32): Show |
3 | a0001c0001t0001g0122a0001c0001t0008g0056a0001c0001t0008g0104 | 3 | HG00735.hp2 HG02055.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(41): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAGGAAA others(37): Show |
3 | a0001c0001t0001g0117a0001c0001t0008g0057a0006c0013t0045g0101 | 3 | HG02622.hp1 HG03195.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(46): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | AAAGGAAA others(42): Show |
3 | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0008g0040 | 3 | HG02922.hp2 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.521+5486_521+5487i others(51): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
A | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+5487T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136395
|
AAAAGG | A | 2 | a0001c0001t0001g0124a0001c0001t0044g0095 | 2 | HG02258.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.521+5482_521+5486d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136395 | ||||||
| chr2:144136514
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+5368A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136514 | ||||||
| chr2:144136756
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+5126G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144136756 | ||||||
| chr2:144137117
|
G | C | 13 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0027others(10): Show | 13 | HG00408.hp2 HG00735.hp1 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.521+4765C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137117 | ||||||
| chr2:144137332
|
G | A | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.521+4550C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137332 | ||||||
| chr2:144137383
|
T | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+4499A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137383 | ||||||
| chr2:144137573
|
A | G | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+4309T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137573 | ||||||
| chr2:144137773
|
A | G | 2 | a0002c0002t0010g0030a0002c0002t0010g0031 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.521+4109T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137773 | ||||||
| chr2:144137780
|
C | T | 2 | a0001c0001t0001g0097a0001c0001t0013g0096 | 2 | HG02055.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.521+4102G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144137780 | ||||||
| chr2:144138049
|
A | T | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.521+3833T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138049 | ||||||
| chr2:144138165
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+3717A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138165 | ||||||
| chr2:144138420
|
A | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.521+3462T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138420 | ||||||
| chr2:144138489
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+3393A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138489 | ||||||
| chr2:144138510
|
G | A | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.521+3372C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138510 | ||||||
| chr2:144138812
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+3070T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138812 | ||||||
| chr2:144138923
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.521+2959A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138923 | ||||||
| chr2:144138983
|
G | T | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.521+2899C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144138983 | ||||||
| chr2:144139001
|
G | A | 10 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(7): Show | 10 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.521+2881C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139001 | ||||||
| chr2:144139305
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+2577C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139305 | ||||||
| chr2:144139309
|
A | G | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.521+2573T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139309 | ||||||
| chr2:144139651
|
T | C | 4 | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0067others(1): Show | 4 | HG04199.hp2 NA19003.hp1 NA19068.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+2231A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139651 | ||||||
| chr2:144139709
|
T | C | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.521+2173A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139709 | ||||||
| chr2:144139710
|
G | A | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.521+2172C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139710 | ||||||
| chr2:144139726
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+2156G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139726 | ||||||
| chr2:144139892
|
C | T | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.521+1990G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139892 | ||||||
| chr2:144139990
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.521+1892A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144139990 | ||||||
| chr2:144140514
|
A | G | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.521+1368T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144140514 | ||||||
| chr2:144140526
|
T | C | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.521+1356A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144140526 | ||||||
| chr2:144140584
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.521+1298C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144140584 | ||||||
| chr2:144140723
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+1159A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144140723 | ||||||
| chr2:144140744
|
C | T | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.521+1138G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144140744 | ||||||
| chr2:144141023
|
T | C | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.521+859A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141023 | ||||||
| chr2:144141038
|
T | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.521+844A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141038 | ||||||
| chr2:144141143
|
G | A | 2 | a0001c0001t0001g0115a0001c0001t0020g0080 | 2 | NA19240.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.521+739C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141143 | ||||||
| chr2:144141395
|
T | C | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.521+487A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141395 | ||||||
| chr2:144141648
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.521+234A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141648 | ||||||
| chr2:144141756
|
G | C | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.521+126C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | 144141756 | ||||||
| chr2:144142362
|
T | A | 3 | a0001c0001t0003g0103a0001c0001t0040g0102a0001c0001t0042g0110 | 3 | HG03471.hp1 HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.348-307A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142362 | ||||||
| chr2:144142380
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.348-325C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142380 | ||||||
| chr2:144142402
|
G | A | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.348-347C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142402 | ||||||
| chr2:144142821
|
T | C | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.348-766A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142821 | ||||||
| chr2:144142845
|
C | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.348-790G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142845 | ||||||
| chr2:144142847
|
G | A | 2 | a0001c0001t0020g0080a0003c0010t0001g0045 | 2 | HG02976.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.348-792C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144142847 | ||||||
| chr2:144143266
|
T | C | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.348-1211A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144143266 | ||||||
| chr2:144143516
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.348-1461C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144143516 | ||||||
| chr2:144143533
|
A | G | 8 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(5): Show | 8 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.348-1478T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144143533 | ||||||
| chr2:144143593
|
T | C | 60 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(57): Show | 60 | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(57): Show |
intron_variant | MODIFIER | c.348-1538A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144143593 | ||||||
| chr2:144143644
|
C | A | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.348-1589G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144143644 | ||||||
| chr2:144144133
|
T | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.347+1439A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144133 | ||||||
| chr2:144144184
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.347+1388A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144184 | ||||||
| chr2:144144186
|
G | A | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.347+1386C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144186 | ||||||
| chr2:144144264
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.347+1308A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144264 | ||||||
| chr2:144144630
|
C | G | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.347+942G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144630 | ||||||
| chr2:144144732
|
C | T | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.347+840G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144732 | ||||||
| chr2:144144984
|
G | GAGA | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.347+587_347+588ins others(3): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144144984 | ||||||
| chr2:144145108
|
TA | T | 6 | a0001c0001t0001g0067a0001c0001t0002g0021a0001c0003t0003g0107others(3): Show | 6 | HG00323.hp1 HG02155.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.347+463delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145108 | ||||||
| chr2:144145109
|
A | T | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.347+463T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145109 | ||||||
| chr2:144145131
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.347+441G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145131 | ||||||
| chr2:144145136
|
G | A | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.347+436C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145136 | ||||||
| chr2:144145306
|
C | T | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.347+266G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145306 | ||||||
| chr2:144145514
|
C | A | 2 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | HG02559.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.347+58G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 5/11 | chr2 | 144145514 | ||||||
| chr2:144145980
|
T | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.180-241A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145980 | ||||||
| chr2:144145983
|
T | TA | 16 | a0001c0001t0001g0012a0001c0001t0001g0043a0001c0001t0001g0069others(13): Show | 16 | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(13): Show |
intron_variant | MODIFIER | c.180-245dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAA | 8 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0041others(5): Show | 8 | HG00323.hp1 HG00735.hp1 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.180-246_180-245dup others(2): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAAAAAAA others(3): Show |
1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.180-254_180-245dup others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAAAAAAA others(5): Show |
1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.180-256_180-245dup others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAAAAAAA others(7): Show |
1 | a0002c0002t0032g0001 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.180-258_180-245dup others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAAAAAAA others(8): Show |
1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.180-259_180-245dup others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
T | TAAAAAAA others(13): Show |
1 | a0002c0002t0002g0005 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.180-264_180-245dup others(20): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TA | T | 6 | a0001c0001t0001g0124a0001c0001t0013g0096a0001c0001t0019g0099others(3): Show | 6 | HG02258.hp2 HG02717.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-245delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAA | T | 4 | a0001c0001t0004g0055a0001c0001t0033g0019a0001c0001t0038g0079others(1): Show | 4 | HG02723.hp1 HG02896.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-249_180-245del others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAA | T | 22 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(19): Show | 22 | HG00140.hp2 HG01109.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.180-250_180-245del others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA | T | 8 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0059others(5): Show | 8 | HG00408.hp1 HG01975.hp2 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.180-251_180-245del others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA others(1): Show |
T | 6 | a0001c0001t0001g0122a0001c0001t0007g0047a0001c0001t0008g0056others(3): Show | 6 | HG00735.hp2 HG01081.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.180-252_180-245del others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA others(2): Show |
T | 8 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(5): Show | 8 | HG02559.hp1 HG02622.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.180-253_180-245del others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA others(5): Show |
T | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.180-256_180-245del others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA others(6): Show |
T | 4 | a0001c0001t0001g0070a0001c0003t0018g0084a0004c0006t0001g0082others(1): Show | 4 | HG02602.hp1 HG02630.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-257_180-245del others(13): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145983
|
TAAAAAAA others(9): Show |
T | 3 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.180-260_180-245del others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145983 | ||||||
| chr2:144145994
|
A | T | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.180-255T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144145994 | ||||||
| chr2:144146094
|
C | G | 95 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(92): Show | 95 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(92): Show |
intron_variant | MODIFIER | c.180-355G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146094 | ||||||
| chr2:144146232
|
T | C | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.180-493A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146232 | ||||||
| chr2:144146383
|
A | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-644T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146383 | ||||||
| chr2:144146433
|
G | A | 8 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(5): Show | 8 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.180-694C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146433 | ||||||
| chr2:144146814
|
T | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-1075A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146814 | ||||||
| chr2:144146911
|
G | A | 59 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(56): Show | 59 | HG00140.hp2 HG00408.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.180-1172C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146911 | ||||||
| chr2:144146955
|
A | G | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.180-1216T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144146955 | ||||||
| chr2:144147161
|
T | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.180-1422A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144147161 | ||||||
| chr2:144147263
|
T | TA | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-1525dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144147263 | ||||||
| chr2:144147411
|
C | T | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-1672G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144147411 | ||||||
| chr2:144147551
|
C | T | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.180-1812G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144147551 | ||||||
| chr2:144147583
|
T | C | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-1844A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144147583 | ||||||
| chr2:144148627
|
T | A | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-2888A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144148627 | ||||||
| chr2:144149534
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-3795C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144149534 | ||||||
| chr2:144149611
|
A | T | 28 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(25): Show | 28 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.180-3872T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144149611 | ||||||
| chr2:144149724
|
C | T | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.180-3985G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144149724 | ||||||
| chr2:144149791
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-4052G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144149791 | ||||||
| chr2:144150022
|
G | A | 28 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(25): Show | 28 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.180-4283C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150022 | ||||||
| chr2:144150124
|
T | C | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.180-4385A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150124 | ||||||
| chr2:144150296
|
C | G | 2 | a0001c0001t0037g0025a0001c0001t0039g0046 | 2 | HG00438.hp1 HG00438.hp2 |
intron_variant | MODIFIER | c.180-4557G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150296 | ||||||
| chr2:144150434
|
T | C | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.180-4695A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150434 | ||||||
| chr2:144150474
|
G | A | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.180-4735C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150474 | ||||||
| chr2:144150663
|
T | A | 6 | a0001c0001t0001g0032a0001c0001t0005g0091a0001c0001t0015g0011others(3): Show | 6 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-4924A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150663 | ||||||
| chr2:144150751
|
C | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-5012G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150751 | ||||||
| chr2:144150804
|
T | C | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-5065A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150804 | ||||||
| chr2:144150855
|
A | G | 1 | a0002c0002t0005g0053 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.180-5116T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150855 | ||||||
| chr2:144150953
|
CAAG | C | 3 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089 | 3 | HG02976.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.180-5217_180-5215d others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144150953 | ||||||
| chr2:144151160
|
T | A | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.180-5421A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144151160 | ||||||
| chr2:144151281
|
G | A | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.180-5542C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144151281 | ||||||
| chr2:144151365
|
CTCTTA | C | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-5631_180-5627d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144151365 | ||||||
| chr2:144151496
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.180-5757T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144151496 | ||||||
| chr2:144151509
|
T | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.180-5770A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144151509 | ||||||
| chr2:144152128
|
T | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.180-6389A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144152128 | ||||||
| chr2:144152223
|
G | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02602.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.180-6484C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144152223 | ||||||
| chr2:144153046
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-7307C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153046 | ||||||
| chr2:144153085
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-7346C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153085 | ||||||
| chr2:144153438
|
G | A | 3 | a0001c0001t0001g0115a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | HG02922.hp2 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.180-7699C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153438 | ||||||
| chr2:144153481
|
G | A | 1 | a0001c0001t0019g0099 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.180-7742C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153481 | ||||||
| chr2:144153513
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-7774A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153513 | ||||||
| chr2:144153559
|
C | T | 4 | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0058others(1): Show | 4 | HG00408.hp2 HG02027.hp1 NA18960.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-7820G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153559 | ||||||
| chr2:144153569
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-7830A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153569 | ||||||
| chr2:144153839
|
G | A | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.180-8100C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153839 | ||||||
| chr2:144153997
|
A | G | 8 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(5): Show | 8 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.180-8258T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144153997 | ||||||
| chr2:144154069
|
C | T | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.180-8330G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154069 | ||||||
| chr2:144154071
|
CAG | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.180-8334_180-8333d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154071 | ||||||
| chr2:144154162
|
T | C | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.180-8423A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154162 | ||||||
| chr2:144154361
|
G | A | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.180-8622C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154361 | ||||||
| chr2:144154466
|
T | A | 1 | a0001c0001t0001g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.180-8727A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154466 | ||||||
| chr2:144154821
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-9082A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154821 | ||||||
| chr2:144154954
|
C | T | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.180-9215G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144154954 | ||||||
| chr2:144155188
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-9449G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144155188 | ||||||
| chr2:144155214
|
A | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-9475T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144155214 | ||||||
| chr2:144155240
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-9501G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144155240 | ||||||
| chr2:144155430
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-9691A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144155430 | ||||||
| chr2:144156415
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-10676A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144156415 | ||||||
| chr2:144156700
|
A | G | 3 | a0001c0003t0018g0084a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.180-10961T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144156700 | ||||||
| chr2:144157083
|
G | A | 9 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0007g0047others(6): Show | 9 | HG00408.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
intron_variant | MODIFIER | c.180-11344C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144157083 | ||||||
| chr2:144157103
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-11364A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144157103 | ||||||
| chr2:144157800
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-12061A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144157800 | ||||||
| chr2:144158028
|
C | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-12289G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144158028 | ||||||
| chr2:144158290
|
T | C | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.180-12551A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144158290 | ||||||
| chr2:144158367
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.180-12628A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144158367 | ||||||
| chr2:144158504
|
G | A | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.180-12765C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144158504 | ||||||
| chr2:144158755
|
T | C | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.180-13016A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144158755 | ||||||
| chr2:144159022
|
G | A | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001 | 3 | HG02622.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.180-13283C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144159022 | ||||||
| chr2:144159237
|
T | C | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.180-13498A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144159237 | ||||||
| chr2:144159679
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.180-13940C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144159679 | ||||||
| chr2:144159842
|
T | A | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.180-14103A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144159842 | ||||||
| chr2:144159944
|
T | C | 2 | a0002c0002t0010g0030a0002c0002t0010g0031 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.180-14205A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144159944 | ||||||
| chr2:144160354
|
T | A | 3 | a0001c0001t0003g0103a0001c0001t0040g0102a0001c0001t0042g0110 | 3 | HG03471.hp1 HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.180-14615A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144160354 | ||||||
| chr2:144160413
|
G | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-14674C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144160413 | ||||||
| chr2:144160659
|
T | C | 55 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(52): Show | 55 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.180-14920A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144160659 | ||||||
| chr2:144160733
|
T | C | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-14994A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144160733 | ||||||
| chr2:144160834
|
A | C | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-15095T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144160834 | ||||||
| chr2:144161067
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.180-15328G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161067 | ||||||
| chr2:144161068
|
G | A | 1 | a0001c0001t0001g0115 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.180-15329C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161068 | ||||||
| chr2:144161075
|
A | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-15336T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161075 | ||||||
| chr2:144161199
|
T | G | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.180-15460A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161199 | ||||||
| chr2:144161212
|
C | T | 4 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(1): Show | 4 | HG02717.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-15473G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161212 | ||||||
| chr2:144161415
|
G | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.180-15676C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161415 | ||||||
| chr2:144161473
|
C | G | 54 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(51): Show | 54 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.180-15734G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161473 | ||||||
| chr2:144161705
|
A | T | 28 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(25): Show | 28 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.180-15966T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161705 | ||||||
| chr2:144161706
|
A | G | 1 | a0001c0001t0001g0012 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.180-15967T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161706 | ||||||
| chr2:144161724
|
T | A | 7 | a0001c0001t0001g0032a0001c0001t0005g0091a0001c0001t0015g0011others(4): Show | 7 | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.180-15985A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144161724 | ||||||
| chr2:144162126
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-16387A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144162126 | ||||||
| chr2:144162428
|
A | G | 54 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(51): Show | 54 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.180-16689T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144162428 | ||||||
| chr2:144162551
|
A | G | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.180-16812T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144162551 | ||||||
| chr2:144162850
|
G | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.180-17111C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144162850 | ||||||
| chr2:144163257
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-17518C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163257 | ||||||
| chr2:144163278
|
T | C | 6 | a0001c0001t0001g0032a0001c0001t0005g0091a0001c0001t0015g0011others(3): Show | 6 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-17539A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163278 | ||||||
| chr2:144163293
|
A | T | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-17554T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163293 | ||||||
| chr2:144163338
|
C | T | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.180-17599G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163338 | ||||||
| chr2:144163496
|
G | A | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.180-17757C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163496 | ||||||
| chr2:144163630
|
T | C | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.180-17891A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163630 | ||||||
| chr2:144163637
|
C | T | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.180-17898G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163637 | ||||||
| chr2:144163651
|
T | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.180-17912A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163651 | ||||||
| chr2:144163708
|
A | G | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.180-17969T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163708 | ||||||
| chr2:144163918
|
A | AGTTT | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.180-18183_180-1818 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163918 | ||||||
| chr2:144163972
|
G | A | 6 | a0001c0001t0001g0032a0001c0001t0005g0091a0001c0001t0015g0011others(3): Show | 6 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-18233C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144163972 | ||||||
| chr2:144164122
|
C | A | 3 | a0001c0003t0018g0084a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.180-18383G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144164122 | ||||||
| chr2:144164501
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-18762C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144164501 | ||||||
| chr2:144165208
|
A | G | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-19469T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165208 | ||||||
| chr2:144165388
|
A | G | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-19649T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165388 | ||||||
| chr2:144165390
|
TATAA | T | 29 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(26): Show | 29 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(26): Show |
intron_variant | MODIFIER | c.180-19655_180-1965 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165390 | ||||||
| chr2:144165390
|
TATAAATA others(1): Show |
T | 5 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0011g0074others(2): Show | 5 | HG00408.hp1 HG01975.hp2 NA18964.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-19659_180-1965 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165390 | ||||||
| chr2:144165711
|
A | C | 15 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(12): Show | 15 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.180-19972T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165711 | ||||||
| chr2:144165787
|
A | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.180-20048T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165787 | ||||||
| chr2:144165872
|
G | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.180-20133C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165872 | ||||||
| chr2:144165889
|
A | C | 55 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(52): Show | 55 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.180-20150T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144165889 | ||||||
| chr2:144166046
|
C | CTTAAG | 55 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(52): Show | 55 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.180-20312_180-2030 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144166046 | ||||||
| chr2:144166054
|
T | C | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.180-20315A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144166054 | ||||||
| chr2:144166298
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-20559G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144166298 | ||||||
| chr2:144167430
|
C | T | 4 | a0003c0004t0005g0088a0003c0004t0014g0083a0003c0004t0014g0087others(1): Show | 4 | HG02809.hp1 HG02886.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-21691G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144167430 | ||||||
| chr2:144167446
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-21707G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144167446 | ||||||
| chr2:144167555
|
C | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-21816G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144167555 | ||||||
| chr2:144167592
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.180-21853A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144167592 | ||||||
| chr2:144167823
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.180-22084A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144167823 | ||||||
| chr2:144168245
|
A | C | 55 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(52): Show | 55 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.180-22506T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168245 | ||||||
| chr2:144168407
|
A | G | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.180-22668T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168407 | ||||||
| chr2:144168494
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.180-22755G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168494 | ||||||
| chr2:144168518
|
C | T | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-22779G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168518 | ||||||
| chr2:144168623
|
T | C | 1 | a0002c0002t0005g0053 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.180-22884A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168623 | ||||||
| chr2:144168628
|
A | T | 39 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(36): Show | 39 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(36): Show |
intron_variant | MODIFIER | c.180-22889T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168628 | ||||||
| chr2:144168714
|
T | C | 34 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(31): Show | 34 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(31): Show |
intron_variant | MODIFIER | c.180-22975A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168714 | ||||||
| chr2:144168885
|
A | G | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-23146T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168885 | ||||||
| chr2:144168928
|
TTTA | T | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-23192_180-2319 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144168928 | ||||||
| chr2:144169985
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.180-24246A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144169985 | ||||||
| chr2:144170212
|
T | G | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-24473A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144170212 | ||||||
| chr2:144170574
|
C | A | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-24835G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144170574 | ||||||
| chr2:144170691
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-24952C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144170691 | ||||||
| chr2:144171349
|
T | C | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-25610A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171349 | ||||||
| chr2:144171417
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-25678G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171417 | ||||||
| chr2:144171517
|
A | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.180-25778T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171517 | ||||||
| chr2:144171541
|
A | T | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-25802T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171541 | ||||||
| chr2:144171836
|
T | C | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.180-26097A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171836 | ||||||
| chr2:144171929
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-26190A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144171929 | ||||||
| chr2:144172243
|
C | G | 2 | a0001c0001t0008g0056a0001c0001t0008g0057 | 2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.180-26504G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172243 | ||||||
| chr2:144172262
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-26523C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172262 | ||||||
| chr2:144172339
|
G | A | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-26600C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172339 | ||||||
| chr2:144172588
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-26849G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172588 | ||||||
| chr2:144172621
|
C | CA | 6 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0097others(3): Show | 6 | HG01975.hp2 HG02027.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-26883dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172621 | ||||||
| chr2:144172621
|
CA | C | 43 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(40): Show | 43 | HG00140.hp2 HG00735.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.180-26883delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172621 | ||||||
| chr2:144172621
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.180-26895_180-2688 others(17): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172621 | ||||||
| chr2:144172692
|
G | A | 4 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.180-26953C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172692 | ||||||
| chr2:144172716
|
T | C | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.180-26977A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172716 | ||||||
| chr2:144172809
|
C | T | 1 | a0001c0001t0001g0058 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.180-27070G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172809 | ||||||
| chr2:144172961
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.180-27222C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144172961 | ||||||
| chr2:144173033
|
A | C | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.180-27294T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173033 | ||||||
| chr2:144173256
|
T | C | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-27517A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173256 | ||||||
| chr2:144173277
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-27538A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173277 | ||||||
| chr2:144173470
|
G | T | 40 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(37): Show | 40 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.180-27731C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173470 | ||||||
| chr2:144173538
|
C | T | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.180-27799G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173538 | ||||||
| chr2:144173545
|
G | A | 46 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(43): Show | 46 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.180-27806C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173545 | ||||||
| chr2:144173703
|
T | C | 5 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(2): Show | 5 | HG00735.hp2 HG02559.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-27964A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173703 | ||||||
| chr2:144173754
|
G | GGA | 40 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(37): Show | 40 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.180-28016_180-2801 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173754 | ||||||
| chr2:144173861
|
G | A | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.180-28122C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173861 | ||||||
| chr2:144173981
|
C | G | 40 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(37): Show | 40 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.180-28242G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144173981 | ||||||
| chr2:144174053
|
C | T | 46 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(43): Show | 46 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.180-28314G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174053 | ||||||
| chr2:144174166
|
C | A | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.180-28427G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174166 | ||||||
| chr2:144174286
|
T | C | 35 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(32): Show | 35 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.180-28547A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174286 | ||||||
| chr2:144174359
|
C | G | 6 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0011g0039others(3): Show | 6 | HG00738.hp2 HG02622.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.180-28620G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174359 | ||||||
| chr2:144174381
|
A | T | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-28642T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174381 | ||||||
| chr2:144174388
|
G | A | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-28649C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174388 | ||||||
| chr2:144174512
|
C | A | 2 | a0001c0001t0009g0098a0001c0001t0019g0099 | 2 | HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.180-28773G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174512 | ||||||
| chr2:144174667
|
C | G | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.180-28928G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174667 | ||||||
| chr2:144174958
|
G | C | 55 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0001g0116others(52): Show | 55 | HG00140.hp2 HG00735.hp2 HG01243.hp2 others(52): Show |
intron_variant | MODIFIER | c.180-29219C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144174958 | ||||||
| chr2:144175023
|
T | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-29284A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175023 | ||||||
| chr2:144175314
|
T | C | 11 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(8): Show | 11 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.180-29575A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175314 | ||||||
| chr2:144175398
|
A | T | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.180-29659T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175398 | ||||||
| chr2:144175624
|
TAG | T | 2 | a0002c0002t0001g0037a0002c0002t0009g0036 | 2 | HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.180-29887_180-2988 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175624 | ||||||
| chr2:144175632
|
T | G | 3 | a0001c0001t0001g0049a0001c0001t0001g0067a0002c0002t0035g0026 | 3 | NA19003.hp1 NA19068.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.180-29893A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175632 | ||||||
| chr2:144175650
|
T | C | 29 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(26): Show | 29 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.180-29911A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175650 | ||||||
| chr2:144175670
|
C | CAG | 2 | a0001c0001t0005g0090a0003c0010t0001g0045 | 2 | HG02717.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.180-29933_180-2993 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175670 | ||||||
| chr2:144175670
|
CAGAGAG | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-29937_180-2993 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175670 | ||||||
| chr2:144175849
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-30110C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175849 | ||||||
| chr2:144175854
|
G | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.180-30115C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144175854 | ||||||
| chr2:144176134
|
G | T | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.180-30395C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176134 | ||||||
| chr2:144176362
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-30623A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176362 | ||||||
| chr2:144176423
|
T | C | 40 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(37): Show | 40 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.180-30684A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176423 | ||||||
| chr2:144176451
|
A | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.180-30712T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176451 | ||||||
| chr2:144176521
|
G | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.180-30782C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176521 | ||||||
| chr2:144176642
|
G | A | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.180-30903C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176642 | ||||||
| chr2:144176782
|
G | T | 28 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(25): Show | 28 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(25): Show |
intron_variant | MODIFIER | c.180-31043C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176782 | ||||||
| chr2:144176957
|
C | G | 46 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(43): Show | 46 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.180-31218G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144176957 | ||||||
| chr2:144177073
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.180-31334G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177073 | ||||||
| chr2:144177088
|
A | AG | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.180-31350dupC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177088 | ||||||
| chr2:144177252
|
T | TA | 56 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(53): Show | 56 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.179+31350dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177252 | ||||||
| chr2:144177252
|
T | TAA | 37 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(34): Show | 37 | HG00140.hp2 HG00438.hp1 HG00738.hp1 others(34): Show |
intron_variant | MODIFIER | c.179+31349_179+3135 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177252 | ||||||
| chr2:144177513
|
T | C | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.179+31090A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177513 | ||||||
| chr2:144177578
|
T | C | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+31025A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177578 | ||||||
| chr2:144177821
|
A | G | 4 | a0001c0003t0003g0107a0001c0003t0003g0108a0001c0014t0003g0089others(1): Show | 4 | HG02896.hp2 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.179+30782T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177821 | ||||||
| chr2:144177867
|
A | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+30736T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144177867 | ||||||
| chr2:144178045
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.179+30558C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178045 | ||||||
| chr2:144178072
|
G | T | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.179+30531C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178072 | ||||||
| chr2:144178087
|
G | A | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.179+30516C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178087 | ||||||
| chr2:144178186
|
G | C | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.179+30417C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178186 | ||||||
| chr2:144178404
|
C | A | 6 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(3): Show | 6 | HG01243.hp2 HG02055.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.179+30199G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178404 | ||||||
| chr2:144178405
|
A | G | 6 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(3): Show | 6 | HG01243.hp2 HG02055.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.179+30198T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178405 | ||||||
| chr2:144178428
|
G | A | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.179+30175C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178428 | ||||||
| chr2:144178570
|
G | T | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.179+30033C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178570 | ||||||
| chr2:144178593
|
C | T | 2 | a0001c0001t0003g0100a0001c0003t0001g0105 | 2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.179+30010G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178593 | ||||||
| chr2:144178601
|
T | C | 46 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(43): Show | 46 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.179+30002A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178601 | ||||||
| chr2:144178728
|
C | T | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.179+29875G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144178728 | ||||||
| chr2:144179222
|
T | C | 34 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(31): Show | 34 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(31): Show |
intron_variant | MODIFIER | c.179+29381A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144179222 | ||||||
| chr2:144179781
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.179+28822C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144179781 | ||||||
| chr2:144179805
|
T | C | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.179+28798A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144179805 | ||||||
| chr2:144179814
|
G | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+28789C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144179814 | ||||||
| chr2:144179964
|
C | T | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.179+28639G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144179964 | ||||||
| chr2:144180271
|
G | T | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.179+28332C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144180271 | ||||||
| chr2:144180549
|
T | A | 39 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(36): Show | 39 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.179+28054A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144180549 | ||||||
| chr2:144180727
|
T | G | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.179+27876A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144180727 | ||||||
| chr2:144181241
|
G | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.179+27362C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144181241 | ||||||
| chr2:144181406
|
T | C | 2 | a0001c0001t0002g0073a0001c0001t0039g0046 | 2 | HG00438.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.179+27197A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144181406 | ||||||
| chr2:144181742
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+26861A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144181742 | ||||||
| chr2:144181978
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+26625G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144181978 | ||||||
| chr2:144182016
|
G | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.179+26587C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182016 | ||||||
| chr2:144182048
|
T | C | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.179+26555A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182048 | ||||||
| chr2:144182198
|
G | A | 5 | a0001c0001t0005g0090a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG02717.hp2 HG02896.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+26405C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182198 | ||||||
| chr2:144182317
|
A | T | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.179+26286T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182317 | ||||||
| chr2:144182351
|
T | G | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.179+26252A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182351 | ||||||
| chr2:144182411
|
T | C | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+26192A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182411 | ||||||
| chr2:144182580
|
T | G | 33 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(30): Show | 33 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(30): Show |
intron_variant | MODIFIER | c.179+26023A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182580 | ||||||
| chr2:144182599
|
G | A | 39 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0013others(36): Show | 39 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.179+26004C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182599 | ||||||
| chr2:144182643
|
C | CA | 33 | a0001c0001t0001g0043a0001c0001t0001g0070a0001c0001t0002g0010others(30): Show | 33 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(30): Show |
intron_variant | MODIFIER | c.179+25959dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182643 | ||||||
| chr2:144182643
|
CA | C | 10 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.179+25959delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182643 | ||||||
| chr2:144182684
|
G | A | 3 | a0001c0003t0018g0084a0004c0006t0001g0082a0004c0006t0026g0081 | 3 | HG02630.hp1 NA19043.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.179+25919C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182684 | ||||||
| chr2:144182785
|
T | TTA | 28 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(25): Show | 28 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(25): Show |
intron_variant | MODIFIER | c.179+25816_179+2581 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182785 | ||||||
| chr2:144182786
|
T | TATATATA others(17): Show |
4 | a0001c0001t0001g0049a0001c0001t0001g0071a0001c0001t0027g0064others(1): Show | 4 | HG01243.hp1 HG02602.hp2 NA18951.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+25816_179+2581 others(28): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182786 | ||||||
| chr2:144182786
|
T | TATATATA others(79): Show |
1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.179+25816_179+2581 others(90): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182786 | ||||||
| chr2:144182786
|
T | TATATATA others(15): Show |
1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.179+25795_179+2581 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182786 | ||||||
| chr2:144182786
|
T | TATATATA others(35): Show |
1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.179+25775_179+2581 others(46): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182786 | ||||||
| chr2:144182788
|
TATATATA others(13): Show |
T | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.179+25795_179+2581 others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182788 | ||||||
| chr2:144182789
|
ATATATAT others(22): Show |
A | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+25785_179+2581 others(33): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182789 | ||||||
| chr2:144182797
|
A | T | 6 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(3): Show | 6 | HG01243.hp2 HG02055.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.179+25806T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182797 | ||||||
| chr2:144182798
|
T | A | 2 | a0002c0002t0006g0076a0002c0002t0010g0063 | 2 | HG01109.hp1 HG02155.hp1 |
intron_variant | MODIFIER | c.179+25805A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182798 | ||||||
| chr2:144182800
|
ATATATAT others(46): Show |
A | 37 | a0001c0001t0001g0097a0001c0001t0002g0010a0001c0001t0002g0021others(34): Show | 37 | HG00140.hp2 HG00438.hp1 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.179+25750_179+2580 others(57): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182800 | ||||||
| chr2:144182806
|
ATAATATA others(45): Show |
A | 2 | a0001c0001t0002g0013a0001c0001t0002g0014 | 2 | NA18951.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.179+25745_179+2579 others(56): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182806 | ||||||
| chr2:144182808
|
A | AAT | 65 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(62): Show | 65 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(62): Show |
intron_variant | MODIFIER | c.179+25793_179+2579 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182808 | ||||||
| chr2:144182808
|
A | AATATATA others(6): Show |
1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.179+25794_179+2579 others(17): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182808 | ||||||
| chr2:144182808
|
A | AATATATA others(28): Show |
1 | a0002c0002t0010g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.179+25794_179+2579 others(39): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182808 | ||||||
| chr2:144182808
|
A | AATATATA others(39): Show |
1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.179+25794_179+2579 others(50): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182808 | ||||||
| chr2:144182808
|
A | AATATATA others(50): Show |
1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.179+25794_179+2579 others(61): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182808 | ||||||
| chr2:144182820
|
A | T | 2 | a0001c0001t0040g0102a0010c0007t0001g0085 | 2 | HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.179+25783T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182820 | ||||||
| chr2:144182829
|
A | T | 6 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(3): Show | 6 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.179+25774T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182829 | ||||||
| chr2:144182831
|
A | T | 1 | a0001c0014t0003g0089 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.179+25772T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182831 | ||||||
| chr2:144182840
|
T | A | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+25763A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182840 | ||||||
| chr2:144182842
|
A | ATATATAT others(13): Show |
1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.179+25760_179+2576 others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182842 | ||||||
| chr2:144182851
|
T | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.179+25752A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182851 | ||||||
| chr2:144182852
|
T | A | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.179+25751A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182852 | ||||||
| chr2:144182853
|
T | A | 8 | a0001c0001t0020g0080a0001c0014t0003g0089a0002c0005t0001g0086others(5): Show | 8 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.179+25750A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182853 | ||||||
| chr2:144182855
|
ATATATAA others(24): Show |
A | 9 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(6): Show | 9 | HG00735.hp2 HG02559.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.179+25717_179+2574 others(35): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182855 | ||||||
| chr2:144182860
|
TA | T | 2 | a0001c0001t0002g0013a0001c0001t0002g0014 | 2 | NA18951.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.179+25742delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182860 | ||||||
| chr2:144182861
|
A | ATTATATA others(10): Show |
1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.179+25741_179+2574 others(21): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182861 | ||||||
| chr2:144182862
|
A | T | 3 | a0001c0001t0001g0049a0001c0001t0017g0028a0001c0001t0020g0080 | 3 | NA19068.hp1 NA19068.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.179+25741T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182862 | ||||||
| chr2:144182862
|
ATATATAT others(4): Show |
A | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.179+25730_179+2574 others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182862 | ||||||
| chr2:144182873
|
T | A | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.179+25730A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182873 | ||||||
| chr2:144182874
|
T | C | 23 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(20): Show | 23 | HG00140.hp2 HG00438.hp1 HG01358.hp1 others(20): Show |
intron_variant | MODIFIER | c.179+25729A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182874 | ||||||
| chr2:144182875
|
A | ATATATAT others(11): Show |
1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+25727_179+2572 others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182875 | ||||||
| chr2:144182885
|
T | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+25718A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182885 | ||||||
| chr2:144182886
|
T | TTA | 5 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0008g0056others(2): Show | 5 | HG00140.hp2 HG02055.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+25715_179+2571 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182886 | ||||||
| chr2:144182886
|
TTA | T | 5 | a0001c0001t0003g0103a0001c0001t0004g0015a0001c0001t0040g0102others(2): Show | 5 | HG03471.hp1 HG03540.hp1 NA19043.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+25715_179+2571 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182886 | ||||||
| chr2:144182888
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+25715T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182888 | ||||||
| chr2:144182901
|
TTA | T | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+25700_179+2570 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182901 | ||||||
| chr2:144182902
|
T | A | 2 | a0001c0001t0001g0043a0001c0001t0003g0003 | 2 | HG00408.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.179+25701A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182902 | ||||||
| chr2:144182902
|
T | G | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.179+25701A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182902 | ||||||
| chr2:144182914
|
T | A | 58 | a0001c0001t0001g0008a0001c0001t0001g0097a0001c0001t0001g0115others(55): Show | 58 | HG00140.hp2 HG00438.hp1 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.179+25689A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144182914 | ||||||
| chr2:144183009
|
T | C | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.179+25594A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183009 | ||||||
| chr2:144183207
|
A | G | 1 | a0001c0001t0001g0027 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.179+25396T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183207 | ||||||
| chr2:144183426
|
C | T | 21 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.179+25177G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183426 | ||||||
| chr2:144183518
|
T | C | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.179+25085A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183518 | ||||||
| chr2:144183553
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.179+25050A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183553 | ||||||
| chr2:144183638
|
T | C | 1 | a0001c0001t0001g0027 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.179+24965A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144183638 | ||||||
| chr2:144184008
|
G | A | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.179+24595C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144184008 | ||||||
| chr2:144184153
|
A | T | 4 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | HG02055.hp2 HG02622.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+24450T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144184153 | ||||||
| chr2:144184758
|
C | G | 5 | a0002c0005t0001g0086a0003c0004t0005g0088a0003c0004t0014g0083others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+23845G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144184758 | ||||||
| chr2:144185052
|
G | C | 2 | a0002c0002t0002g0004a0002c0002t0002g0005 | 2 | HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.179+23551C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144185052 | ||||||
| chr2:144185096
|
T | C | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.179+23507A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144185096 | ||||||
| chr2:144185277
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.179+23326A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144185277 | ||||||
| chr2:144185336
|
C | T | 2 | a0001c0001t0028g0034a0001c0014t0003g0089 | 2 | HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.179+23267G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144185336 | ||||||
| chr2:144185464
|
C | T | 1 | a0001c0001t0002g0073 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.179+23139G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144185464 | ||||||
| chr2:144186382
|
T | C | 24 | a0001c0001t0001g0012a0001c0001t0002g0010a0001c0001t0002g0013others(21): Show | 24 | HG00140.hp2 HG00438.hp1 HG01358.hp1 others(21): Show |
intron_variant | MODIFIER | c.179+22221A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144186382 | ||||||
| chr2:144186641
|
C | T | 2 | a0002c0002t0001g0037a0002c0002t0009g0036 | 2 | HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.179+21962G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144186641 | ||||||
| chr2:144186722
|
A | G | 1 | a0002c0002t0006g0061 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.179+21881T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144186722 | ||||||
| chr2:144187330
|
G | A | 1 | a0001c0001t0003g0103 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.179+21273C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144187330 | ||||||
| chr2:144187991
|
A | G | 1 | a0002c0002t0010g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.179+20612T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144187991 | ||||||
| chr2:144188025
|
C | CAAGAAGC others(340): Show |
1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.179+20577_179+2057 others(351): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188025 | ||||||
| chr2:144188227
|
A | T | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.179+20376T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188227 | ||||||
| chr2:144188508
|
C | CGGAT | 14 | a0001c0001t0001g0008a0001c0001t0001g0058a0001c0001t0001g0097others(11): Show | 14 | HG01243.hp2 HG02055.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.179+20091_179+2009 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188508 | ||||||
| chr2:144188508
|
CGGAT | C | 49 | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0049others(46): Show | 49 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(46): Show |
intron_variant | MODIFIER | c.179+20091_179+2009 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188508 | ||||||
| chr2:144188768
|
A | ATAG | 94 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(91): Show | 94 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.179+19832_179+1983 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188768 | ||||||
| chr2:144188957
|
A | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.179+19646T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144188957 | ||||||
| chr2:144189017
|
C | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0023 | 2 | HG02027.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.179+19586G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144189017 | ||||||
| chr2:144189340
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+19263C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144189340 | ||||||
| chr2:144189683
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.179+18920C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144189683 | ||||||
| chr2:144190201
|
G | T | 2 | a0001c0001t0009g0098a0001c0001t0019g0099 | 2 | HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.179+18402C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144190201 | ||||||
| chr2:144190360
|
A | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+18243T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144190360 | ||||||
| chr2:144190623
|
A | G | 1 | a0001c0001t0001g0058 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.179+17980T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144190623 | ||||||
| chr2:144190807
|
G | A | 1 | a0001c0001t0002g0094 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.179+17796C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144190807 | ||||||
| chr2:144190845
|
T | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.179+17758A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144190845 | ||||||
| chr2:144191009
|
C | T | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.179+17594G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144191009 | ||||||
| chr2:144191381
|
C | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.179+17222G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144191381 | ||||||
| chr2:144191811
|
G | A | 3 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.179+16792C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144191811 | ||||||
| chr2:144191954
|
C | T | 6 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(3): Show | 6 | HG02055.hp1 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.179+16649G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144191954 | ||||||
| chr2:144191963
|
A | C | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+16640T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144191963 | ||||||
| chr2:144192056
|
A | G | 1 | a0001c0001t0009g0098 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.179+16547T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192056 | ||||||
| chr2:144192109
|
CT | C | 31 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(28): Show | 31 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(28): Show |
intron_variant | MODIFIER | c.179+16493delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192109 | ||||||
| chr2:144192170
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+16433T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192170 | ||||||
| chr2:144192281
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+16322T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192281 | ||||||
| chr2:144192359
|
A | C | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.179+16244T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192359 | ||||||
| chr2:144192408
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+16195T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192408 | ||||||
| chr2:144192555
|
C | G | 1 | a0002c0002t0031g0054 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.179+16048G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192555 | ||||||
| chr2:144192681
|
G | T | 48 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(45): Show | 48 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(45): Show |
intron_variant | MODIFIER | c.179+15922C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192681 | ||||||
| chr2:144192792
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+15811A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144192792 | ||||||
| chr2:144193076
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.179+15527A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193076 | ||||||
| chr2:144193368
|
C | A | 2 | a0001c0001t0003g0100a0001c0001t0005g0090 | 2 | HG02717.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.179+15235G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193368 | ||||||
| chr2:144193390
|
C | T | 2 | a0001c0001t0020g0080a0002c0005t0001g0029 | 2 | HG02896.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.179+15213G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193390 | ||||||
| chr2:144193468
|
G | A | 1 | a0001c0001t0008g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.179+15135C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193468 | ||||||
| chr2:144193505
|
CGT | C | 2 | a0001c0001t0020g0080a0002c0005t0001g0029 | 2 | HG02896.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.179+15096_179+1509 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193505 | ||||||
| chr2:144193505
|
CGTGT | C | 5 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(2): Show | 5 | HG02055.hp1 HG02723.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+15094_179+1509 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193505 | ||||||
| chr2:144193627
|
C | G | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+14976G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193627 | ||||||
| chr2:144193879
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+14724T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144193879 | ||||||
| chr2:144194115
|
T | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+14488A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194115 | ||||||
| chr2:144194123
|
T | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.179+14480A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194123 | ||||||
| chr2:144194215
|
C | T | 47 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(44): Show | 47 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(44): Show |
intron_variant | MODIFIER | c.179+14388G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194215 | ||||||
| chr2:144194568
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+14035C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194568 | ||||||
| chr2:144194593
|
G | A | 12 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(9): Show | 12 | HG01243.hp2 HG02723.hp1 HG02809.hp1 others(9): Show |
intron_variant | MODIFIER | c.179+14010C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194593 | ||||||
| chr2:144194682
|
G | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.179+13921C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194682 | ||||||
| chr2:144194824
|
C | T | 1 | a0003c0004t0005g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.179+13779G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144194824 | ||||||
| chr2:144195175
|
T | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.179+13428A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195175 | ||||||
| chr2:144195214
|
T | C | 2 | a0001c0001t0038g0079a0008c0011t0021g0077 | 2 | HG02559.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.179+13389A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195214 | ||||||
| chr2:144195224
|
A | C | 1 | a0002c0002t0006g0048 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.179+13379T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195224 | ||||||
| chr2:144195394
|
G | C | 48 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(45): Show | 48 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(45): Show |
intron_variant | MODIFIER | c.179+13209C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195394 | ||||||
| chr2:144195690
|
G | A | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.179+12913C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195690 | ||||||
| chr2:144195977
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.179+12626T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144195977 | ||||||
| chr2:144196213
|
C | CCA | 4 | a0001c0001t0001g0006a0001c0001t0001g0069a0002c0002t0006g0076others(1): Show | 4 | HG01109.hp1 HG01109.hp2 HG02027.hp1 others(1): Show |
intron_variant | MODIFIER | c.179+12388_179+1238 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196213
|
C | CCACA | 2 | a0001c0001t0001g0007a0002c0002t0030g0068 | 2 | HG04199.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.179+12386_179+1238 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196213
|
CCA | C | 37 | a0001c0001t0001g0070a0001c0001t0001g0112a0001c0001t0001g0115others(34): Show | 37 | HG00323.hp1 HG00735.hp2 HG00738.hp2 others(34): Show |
intron_variant | MODIFIER | c.179+12388_179+1238 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196213
|
CCACA | C | 32 | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0124others(29): Show | 32 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(29): Show |
intron_variant | MODIFIER | c.179+12386_179+1238 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196213
|
CCACACAC others(1): Show |
C | 7 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(4): Show | 7 | HG02055.hp1 HG02622.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.179+12382_179+1238 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196213
|
CCACACAC others(3): Show |
C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.179+12380_179+1238 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196213 | ||||||
| chr2:144196255
|
TATATA | T | 2 | a0001c0001t0020g0080a0002c0005t0001g0029 | 2 | HG02896.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.179+12343_179+1234 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196255 | ||||||
| chr2:144196257
|
T | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.179+12346A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196257 | ||||||
| chr2:144196896
|
G | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.179+11707C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144196896 | ||||||
| chr2:144197212
|
C | T | 47 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(44): Show | 47 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(44): Show |
intron_variant | MODIFIER | c.179+11391G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197212 | ||||||
| chr2:144197267
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+11336T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197267 | ||||||
| chr2:144197295
|
T | TTG | 5 | a0001c0001t0001g0124a0001c0001t0003g0100a0001c0001t0015g0017others(2): Show | 5 | HG02258.hp2 HG02622.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+11306_179+1130 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197295 | ||||||
| chr2:144197295
|
TTG | T | 21 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.179+11306_179+1130 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197295 | ||||||
| chr2:144197319
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+11284C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197319 | ||||||
| chr2:144197319
|
G | GTA | 7 | a0001c0001t0001g0032a0001c0001t0004g0055a0001c0001t0015g0011others(4): Show | 7 | HG00438.hp1 HG00438.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.179+11282_179+1128 others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197319 | ||||||
| chr2:144197484
|
T | C | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.179+11119A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197484 | ||||||
| chr2:144197645
|
G | A | 2 | a0001c0001t0003g0100a0001c0001t0005g0090 | 2 | HG02717.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.179+10958C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197645 | ||||||
| chr2:144197700
|
T | C | 2 | a0001c0001t0020g0080a0002c0005t0001g0029 | 2 | HG02896.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.179+10903A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197700 | ||||||
| chr2:144197811
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+10792A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144197811 | ||||||
| chr2:144198597
|
G | T | 2 | a0001c0001t0003g0100a0001c0001t0005g0090 | 2 | HG02717.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.179+10006C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144198597 | ||||||
| chr2:144198644
|
C | T | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.179+9959G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144198644 | ||||||
| chr2:144198787
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.179+9816T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144198787 | ||||||
| chr2:144198805
|
A | G | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.179+9798T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144198805 | ||||||
| chr2:144198942
|
C | T | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.179+9661G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144198942 | ||||||
| chr2:144199049
|
C | CT | 10 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(7): Show | 10 | HG00738.hp1 HG00738.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.179+9553dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144199049 | ||||||
| chr2:144199269
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+9334C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144199269 | ||||||
| chr2:144199309
|
A | G | 21 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.179+9294T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144199309 | ||||||
| chr2:144199465
|
G | A | 21 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.179+9138C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144199465 | ||||||
| chr2:144199748
|
A | G | 3 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.179+8855T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144199748 | ||||||
| chr2:144200015
|
C | T | 1 | a0002c0002t0009g0038 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.179+8588G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200015 | ||||||
| chr2:144200109
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+8494T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200109 | ||||||
| chr2:144200337
|
T | C | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.179+8266A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200337 | ||||||
| chr2:144200445
|
C | T | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.179+8158G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200445 | ||||||
| chr2:144200585
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.179+8018G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200585 | ||||||
| chr2:144200723
|
C | T | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.179+7880G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200723 | ||||||
| chr2:144200773
|
G | T | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.179+7830C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144200773 | ||||||
| chr2:144201081
|
T | C | 13 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(10): Show | 13 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(10): Show |
intron_variant | MODIFIER | c.179+7522A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144201081 | ||||||
| chr2:144201166
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.179+7437G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144201166 | ||||||
| chr2:144201382
|
G | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.179+7221C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144201382 | ||||||
| chr2:144201406
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.179+7197C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144201406 | ||||||
| chr2:144201898
|
T | C | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.179+6705A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144201898 | ||||||
| chr2:144202170
|
G | A | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.179+6433C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202170 | ||||||
| chr2:144202190
|
A | G | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.179+6413T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202190 | ||||||
| chr2:144202261
|
C | T | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.179+6342G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202261 | ||||||
| chr2:144202262
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.179+6341C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202262 | ||||||
| chr2:144202293
|
A | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.179+6310T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202293 | ||||||
| chr2:144202631
|
CGTTTA | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.179+5967_179+5971d others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202631 | ||||||
| chr2:144202763
|
G | C | 47 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(44): Show | 47 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(44): Show |
intron_variant | MODIFIER | c.179+5840C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144202763 | ||||||
| chr2:144203150
|
A | AGT | 8 | a0001c0001t0001g0072a0001c0001t0004g0016a0001c0001t0007g0024others(5): Show | 8 | HG01081.hp1 HG01109.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.179+5451_179+5452d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
A | AGTGT | 9 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0027others(6): Show | 9 | HG00735.hp1 HG01081.hp2 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.179+5449_179+5452d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
A | AGTGTGT | 3 | a0001c0001t0001g0067a0001c0001t0017g0028a0001c0001t0028g0034 | 3 | HG02717.hp1 NA19003.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.179+5447_179+5452d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGT | A | 30 | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0001g0070others(27): Show | 30 | HG00323.hp1 HG00408.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.179+5451_179+5452d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGT | A | 7 | a0001c0001t0003g0100a0001c0001t0038g0079a0002c0002t0005g0053others(4): Show | 7 | HG00738.hp2 HG02109.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.179+5449_179+5452d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGTGT | A | 11 | a0001c0001t0001g0112a0001c0001t0003g0103a0001c0001t0008g0104others(8): Show | 11 | HG02622.hp1 HG02647.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.179+5447_179+5452d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGTGTG others(1): Show |
A | 14 | a0001c0001t0001g0008a0001c0001t0001g0097a0001c0001t0002g0094others(11): Show | 14 | HG01358.hp1 HG01975.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.179+5445_179+5452d others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGTGTG others(3): Show |
A | 19 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0014others(16): Show | 19 | HG00140.hp2 HG01243.hp2 HG02027.hp2 others(16): Show |
intron_variant | MODIFIER | c.179+5443_179+5452d others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGTGTG others(5): Show |
A | 4 | a0001c0001t0041g0035a0002c0005t0001g0086a0004c0006t0001g0082others(1): Show | 4 | HG00323.hp2 HG02630.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.179+5441_179+5452d others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203150
|
AGTGTGTG others(7): Show |
A | 3 | a0001c0001t0001g0012a0001c0003t0003g0107a0001c0003t0003g0108 | 3 | HG02976.hp2 HG03540.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.179+5439_179+5452d others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203150 | ||||||
| chr2:144203216
|
C | T | 53 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(50): Show | 53 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(50): Show |
intron_variant | MODIFIER | c.179+5387G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203216 | ||||||
| chr2:144203353
|
G | C | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.179+5250C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203353 | ||||||
| chr2:144203573
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.179+5030G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144203573 | ||||||
| chr2:144204044
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+4559G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144204044 | ||||||
| chr2:144204220
|
T | C | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.179+4383A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144204220 | ||||||
| chr2:144204384
|
G | A | 22 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(19): Show | 22 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.179+4219C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144204384 | ||||||
| chr2:144204693
|
C | G | 16 | a0001c0001t0038g0079a0001c0003t0001g0105a0001c0003t0003g0107others(13): Show | 16 | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(13): Show |
intron_variant | MODIFIER | c.179+3910G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144204693 | ||||||
| chr2:144204925
|
T | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.179+3678A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144204925 | ||||||
| chr2:144205046
|
C | T | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.179+3557G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144205046 | ||||||
| chr2:144205486
|
G | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.179+3117C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144205486 | ||||||
| chr2:144205596
|
C | T | 53 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(50): Show | 53 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(50): Show |
intron_variant | MODIFIER | c.179+3007G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144205596 | ||||||
| chr2:144206098
|
A | T | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.179+2505T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206098 | ||||||
| chr2:144206264
|
G | A | 22 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(19): Show | 22 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.179+2339C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206264 | ||||||
| chr2:144206276
|
T | C | 53 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(50): Show | 53 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(50): Show |
intron_variant | MODIFIER | c.179+2327A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206276 | ||||||
| chr2:144206536
|
T | C | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.179+2067A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206536 | ||||||
| chr2:144206555
|
G | A | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.179+2048C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206555 | ||||||
| chr2:144206627
|
G | A | 3 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057 | 3 | HG02055.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.179+1976C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206627 | ||||||
| chr2:144206719
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.179+1884G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206719 | ||||||
| chr2:144206798
|
A | G | 39 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0027others(36): Show | 39 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(36): Show |
intron_variant | MODIFIER | c.179+1805T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206798 | ||||||
| chr2:144206940
|
C | T | 3 | a0001c0014t0003g0089a0003c0004t0005g0088a0003c0004t0014g0083 | 3 | HG02809.hp1 HG03195.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.179+1663G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206940 | ||||||
| chr2:144206944
|
A | C | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.179+1659T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144206944 | ||||||
| chr2:144207318
|
T | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.179+1285A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144207318 | ||||||
| chr2:144207395
|
A | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.179+1208T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144207395 | ||||||
| chr2:144207669
|
G | C | 39 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0027others(36): Show | 39 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(36): Show |
intron_variant | MODIFIER | c.179+934C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144207669 | ||||||
| chr2:144208148
|
T | C | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.179+455A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144208148 | ||||||
| chr2:144208309
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.179+294A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144208309 | ||||||
| chr2:144208334
|
C | G | 3 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.179+269G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | 144208334 | ||||||
| chr2:144209023
|
G | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-23-219C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209023 | ||||||
| chr2:144209137
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-23-333C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209137 | ||||||
| chr2:144209222
|
C | T | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-23-418G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209222 | ||||||
| chr2:144209410
|
A | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-23-606T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209410 | ||||||
| chr2:144209466
|
A | G | 2 | a0001c0001t0015g0011a0001c0001t0015g0017 | 2 | HG00738.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-23-662T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209466 | ||||||
| chr2:144209559
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-23-755T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209559 | ||||||
| chr2:144209740
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-23-936G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209740 | ||||||
| chr2:144209851
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-23-1047T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144209851 | ||||||
| chr2:144210216
|
A | C | 1 | a0001c0001t0004g0020 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-24+1299T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144210216 | ||||||
| chr2:144210362
|
A | G | 36 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(33): Show | 36 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(33): Show |
intron_variant | MODIFIER | c.-24+1153T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144210362 | ||||||
| chr2:144210444
|
T | C | 11 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(8): Show | 11 | HG01243.hp2 HG02723.hp1 HG02809.hp1 others(8): Show |
intron_variant | MODIFIER | c.-24+1071A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144210444 | ||||||
| chr2:144210645
|
A | C | 1 | a0001c0001t0001g0115 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-24+870T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144210645 | ||||||
| chr2:144211133
|
C | T | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-24+382G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144211133 | ||||||
| chr2:144211376
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-24+139G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 3/11 | chr2 | 144211376 | ||||||
| chr2:144211836
|
C | T | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-88-257G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144211836 | ||||||
| chr2:144212051
|
T | C | 52 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(49): Show | 52 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(49): Show |
intron_variant | MODIFIER | c.-88-472A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144212051 | ||||||
| chr2:144212433
|
G | A | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-88-854C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144212433 | ||||||
| chr2:144212982
|
T | C | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-88-1403A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144212982 | ||||||
| chr2:144212986
|
A | G | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-88-1407T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144212986 | ||||||
| chr2:144213010
|
C | T | 52 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(49): Show | 52 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(49): Show |
intron_variant | MODIFIER | c.-88-1431G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144213010 | ||||||
| chr2:144213148
|
A | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-88-1569T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144213148 | ||||||
| chr2:144213833
|
T | C | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-88-2254A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144213833 | ||||||
| chr2:144213854
|
G | C | 2 | a0001c0001t0001g0071a0002c0002t0001g0060 | 2 | HG02602.hp2 NA18951.hp1 |
intron_variant | MODIFIER | c.-88-2275C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144213854 | ||||||
| chr2:144214179
|
A | C | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-88-2600T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144214179 | ||||||
| chr2:144214748
|
T | A | 1 | a0001c0001t0001g0069 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-88-3169A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144214748 | ||||||
| chr2:144214765
|
C | T | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-88-3186G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144214765 | ||||||
| chr2:144214864
|
C | T | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-88-3285G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144214864 | ||||||
| chr2:144214942
|
G | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-88-3363C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144214942 | ||||||
| chr2:144215249
|
T | A | 8 | a0001c0001t0001g0049a0001c0001t0003g0100a0001c0001t0004g0055others(5): Show | 8 | HG02630.hp1 HG02717.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.-88-3670A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215249 | ||||||
| chr2:144215250
|
A | T | 2 | a0001c0001t0003g0003a0001c0001t0039g0046 | 2 | HG00438.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.-88-3671T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215250 | ||||||
| chr2:144215259
|
A | T | 13 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(10): Show | 13 | HG02055.hp1 HG02622.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.-88-3680T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215259 | ||||||
| chr2:144215261
|
A | AT | 2 | a0002c0002t0010g0030a0002c0002t0035g0026 | 2 | NA19066.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.-88-3683_-88-3682i others(3): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215261 | ||||||
| chr2:144215261
|
A | T | 54 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0027others(51): Show | 54 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(51): Show |
intron_variant | MODIFIER | c.-88-3682T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215261 | ||||||
| chr2:144215273
|
T | TAC | 7 | a0001c0001t0001g0070a0001c0001t0001g0122a0001c0001t0008g0040others(4): Show | 7 | HG00735.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.-88-3696_-88-3695d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215273 | ||||||
| chr2:144215297
|
C | CAT | 11 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0003g0103others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-88-3720_-88-3719d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215297 | ||||||
| chr2:144215297
|
C | T | 38 | a0001c0001t0001g0008a0001c0001t0001g0112a0001c0001t0001g0124others(35): Show | 38 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(35): Show |
intron_variant | MODIFIER | c.-88-3718G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215297 | ||||||
| chr2:144215299
|
T | C | 1 | a0002c0002t0035g0026 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-88-3720A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215299 | ||||||
| chr2:144215309
|
T | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-88-3730A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215309 | ||||||
| chr2:144215363
|
T | C | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-88-3784A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144215363 | ||||||
| chr2:144216040
|
C | T | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-88-4461G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144216040 | ||||||
| chr2:144216167
|
C | T | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-88-4588G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144216167 | ||||||
| chr2:144216622
|
T | C | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-88-5043A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144216622 | ||||||
| chr2:144217016
|
A | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-88-5437T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217016 | ||||||
| chr2:144217172
|
T | C | 1 | a0001c0001t0027g0064 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-88-5593A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217172 | ||||||
| chr2:144217249
|
A | C | 6 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(3): Show | 6 | HG00735.hp2 HG02559.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-88-5670T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217249 | ||||||
| chr2:144217357
|
A | G | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-88-5778T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217357 | ||||||
| chr2:144217579
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-88-6000T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217579 | ||||||
| chr2:144217609
|
T | G | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-88-6030A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217609 | ||||||
| chr2:144217622
|
G | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-88-6043C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144217622 | ||||||
| chr2:144218915
|
T | TA | 6 | a0001c0001t0001g0124a0001c0001t0002g0023a0001c0001t0007g0024others(3): Show | 6 | HG00438.hp1 HG00438.hp2 HG02027.hp2 others(3): Show |
intron_variant | MODIFIER | c.-88-7337dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144218915 | ||||||
| chr2:144218915
|
TA | T | 10 | a0001c0001t0001g0008a0001c0001t0003g0100a0001c0001t0024g0123others(7): Show | 10 | HG00323.hp2 HG02109.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.-88-7337delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144218915 | ||||||
| chr2:144218915
|
TAA | T | 9 | a0001c0003t0001g0105a0001c0003t0018g0084a0001c0003t0036g0106others(6): Show | 9 | HG01243.hp2 HG02723.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.-88-7338_-88-7337d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144218915 | ||||||
| chr2:144218915
|
TAAA | T | 4 | a0001c0003t0003g0107a0001c0003t0003g0108a0004c0006t0001g0082others(1): Show | 4 | HG02630.hp1 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-88-7339_-88-7337d others(5): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144218915 | ||||||
| chr2:144218915
|
TAAAAAAA others(5): Show |
T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-88-7348_-88-7337d others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144218915 | ||||||
| chr2:144219016
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-88-7437G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144219016 | ||||||
| chr2:144219577
|
T | C | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-88-7998A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144219577 | ||||||
| chr2:144219857
|
T | G | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-88-8278A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144219857 | ||||||
| chr2:144219973
|
C | A | 3 | a0001c0001t0004g0015a0001c0001t0004g0020a0001c0001t0016g0009 | 3 | NA18980.hp2 NA19003.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-88-8394G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144219973 | ||||||
| chr2:144220090
|
T | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-88-8511A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144220090 | ||||||
| chr2:144220184
|
T | G | 2 | a0002c0002t0010g0030a0002c0002t0010g0031 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.-88-8605A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144220184 | ||||||
| chr2:144220325
|
T | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-88-8746A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144220325 | ||||||
| chr2:144220614
|
A | C | 1 | a0001c0001t0023g0042 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-88-9035T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144220614 | ||||||
| chr2:144222153
|
G | A | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-88-10574C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222153 | ||||||
| chr2:144222158
|
T | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-88-10579A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222158 | ||||||
| chr2:144222217
|
G | A | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-88-10638C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222217 | ||||||
| chr2:144222281
|
G | C | 7 | a0001c0001t0004g0055a0001c0001t0015g0011a0001c0001t0015g0017others(4): Show | 7 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.-88-10702C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222281 | ||||||
| chr2:144222428
|
GA | G | 2 | a0001c0001t0020g0080a0002c0005t0001g0029 | 2 | HG02896.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-88-10850delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222428 | ||||||
| chr2:144222444
|
T | C | 1 | a0001c0001t0008g0104 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-88-10865A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222444 | ||||||
| chr2:144222506
|
T | C | 4 | a0001c0001t0002g0033a0001c0001t0002g0113a0001c0001t0012g0092others(1): Show | 4 | HG00140.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.-88-10927A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222506 | ||||||
| chr2:144222578
|
G | A | 1 | a0002c0002t0006g0061 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.-88-10999C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222578 | ||||||
| chr2:144222630
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-88-11051A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222630 | ||||||
| chr2:144222717
|
A | G | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-88-11138T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222717 | ||||||
| chr2:144222989
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-88-11410A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144222989 | ||||||
| chr2:144223121
|
C | G | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-88-11542G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144223121 | ||||||
| chr2:144223338
|
G | A | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-88-11759C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144223338 | ||||||
| chr2:144223763
|
A | G | 3 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.-89+11913T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144223763 | ||||||
| chr2:144223769
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-89+11907G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144223769 | ||||||
| chr2:144224197
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-89+11479A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144224197 | ||||||
| chr2:144224444
|
T | G | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-89+11232A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144224444 | ||||||
| chr2:144224702
|
A | G | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-89+10974T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144224702 | ||||||
| chr2:144224722
|
C | T | 54 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(51): Show | 54 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(51): Show |
intron_variant | MODIFIER | c.-89+10954G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144224722 | ||||||
| chr2:144224923
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-89+10753C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144224923 | ||||||
| chr2:144225758
|
G | C | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-89+9918C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144225758 | ||||||
| chr2:144225918
|
T | C | 1 | a0002c0002t0034g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-89+9758A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144225918 | ||||||
| chr2:144226102
|
T | C | 1 | a0002c0002t0031g0054 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-89+9574A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226102 | ||||||
| chr2:144226548
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-89+9128A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226548 | ||||||
| chr2:144226683
|
G | A | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-89+8993C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226683 | ||||||
| chr2:144226750
|
G | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+8926C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226750 | ||||||
| chr2:144226891
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-89+8785A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226891 | ||||||
| chr2:144226984
|
T | G | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-89+8692A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144226984 | ||||||
| chr2:144227017
|
T | C | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-89+8659A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227017 | ||||||
| chr2:144227052
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-89+8624C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227052 | ||||||
| chr2:144227148
|
A | T | 3 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057 | 3 | HG02055.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-89+8528T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227148 | ||||||
| chr2:144227331
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-89+8345G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227331 | ||||||
| chr2:144227335
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-89+8341G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227335 | ||||||
| chr2:144227585
|
C | T | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-89+8091G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144227585 | ||||||
| chr2:144228010
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-89+7666A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144228010 | ||||||
| chr2:144228501
|
A | G | 5 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-89+7175T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144228501 | ||||||
| chr2:144228538
|
T | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-89+7138A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144228538 | ||||||
| chr2:144228582
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+7094C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144228582 | ||||||
| chr2:144228685
|
G | A | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-89+6991C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144228685 | ||||||
| chr2:144229194
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-89+6482C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144229194 | ||||||
| chr2:144229574
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+6102C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144229574 | ||||||
| chr2:144229743
|
T | C | 1 | a0002c0002t0029g0075 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-89+5933A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144229743 | ||||||
| chr2:144229969
|
A | C | 22 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(19): Show | 22 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.-89+5707T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144229969 | ||||||
| chr2:144229995
|
T | C | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-89+5681A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144229995 | ||||||
| chr2:144230106
|
A | G | 2 | a0001c0001t0003g0100a0002c0002t0006g0076 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-89+5570T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144230106 | ||||||
| chr2:144230137
|
G | A | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-89+5539C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144230137 | ||||||
| chr2:144231166
|
A | G | 6 | a0001c0001t0001g0032a0001c0001t0001g0049a0002c0002t0001g0050others(3): Show | 6 | HG00323.hp1 HG03017.hp1 HG03492.hp2 others(3): Show |
intron_variant | MODIFIER | c.-89+4510T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231166 | ||||||
| chr2:144231190
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+4486C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231190 | ||||||
| chr2:144231200
|
C | T | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001 | 3 | HG02622.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-89+4476G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231200 | ||||||
| chr2:144231237
|
A | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-89+4439T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231237 | ||||||
| chr2:144231338
|
T | C | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-89+4338A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231338 | ||||||
| chr2:144231661
|
T | G | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-89+4015A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231661 | ||||||
| chr2:144231843
|
G | GGT | 8 | a0001c0003t0003g0108a0002c0002t0001g0037a0002c0002t0002g0004others(5): Show | 8 | HG02109.hp2 HG02155.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.-89+3831_-89+3832d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
G | GGTGT | 5 | a0001c0001t0001g0069a0001c0001t0001g0071a0002c0002t0001g0051others(2): Show | 5 | HG00738.hp2 HG02027.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.-89+3829_-89+3832d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
G | GGTGTGT | 4 | a0001c0001t0001g0032a0001c0001t0001g0049a0002c0002t0043g0121others(1): Show | 4 | HG03017.hp1 HG04184.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.-89+3827_-89+3832d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
G | GGTGTGTG others(1): Show |
2 | a0002c0002t0001g0050a0002c0002t0005g0053 | 2 | HG00323.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.-89+3825_-89+3832d others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
G | GGTGTGTG others(3): Show |
1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-89+3823_-89+3832d others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGT | G | 18 | a0001c0001t0001g0067a0001c0001t0001g0097a0001c0001t0001g0115others(15): Show | 18 | HG00140.hp1 HG00735.hp2 HG01358.hp2 others(15): Show |
intron_variant | MODIFIER | c.-89+3831_-89+3832d others(4): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGT | G | 9 | a0001c0001t0004g0055a0001c0001t0011g0114a0001c0001t0015g0017others(6): Show | 9 | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(6): Show |
intron_variant | MODIFIER | c.-89+3829_-89+3832d others(6): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGT | G | 14 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0003g0100others(11): Show | 14 | HG00735.hp1 HG01243.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.-89+3827_-89+3832d others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(1): Show |
G | 9 | a0001c0001t0001g0027a0001c0001t0001g0058a0001c0001t0002g0073others(6): Show | 9 | HG00738.hp1 HG01081.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.-89+3825_-89+3832d others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(3): Show |
G | 3 | a0001c0001t0028g0034a0001c0001t0038g0079a0007c0009t0025g0078 | 3 | HG02717.hp1 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-89+3823_-89+3832d others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(5): Show |
G | 4 | a0001c0001t0004g0016a0001c0001t0007g0024a0001c0001t0016g0044others(1): Show | 4 | HG01975.hp2 HG02559.hp2 NA18980.hp1 others(1): Show |
intron_variant | MODIFIER | c.-89+3821_-89+3832d others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(7): Show |
G | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-89+3819_-89+3832d others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(13): Show |
G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-89+3813_-89+3832d others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(17): Show |
G | 19 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-89+3809_-89+3832d others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144231843
|
GGTGTGTG others(19): Show |
G | 3 | a0001c0001t0004g0015a0001c0001t0004g0020a0001c0001t0016g0009 | 3 | NA18980.hp2 NA19003.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-89+3807_-89+3832d others(28): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144231843 | ||||||
| chr2:144232417
|
A | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-89+3259T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144232417 | ||||||
| chr2:144232718
|
C | G | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-89+2958G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144232718 | ||||||
| chr2:144232803
|
T | A | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-89+2873A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144232803 | ||||||
| chr2:144232886
|
T | C | 5 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-89+2790A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144232886 | ||||||
| chr2:144232981
|
A | G | 2 | a0001c0001t0001g0032a0002c0002t0001g0051 | 2 | HG03017.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.-89+2695T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144232981 | ||||||
| chr2:144233256
|
C | A | 6 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-89+2420G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144233256 | ||||||
| chr2:144233295
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-89+2381T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144233295 | ||||||
| chr2:144233525
|
G | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+2151C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144233525 | ||||||
| chr2:144233681
|
G | A | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-89+1995C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144233681 | ||||||
| chr2:144233689
|
T | C | 2 | a0001c0001t0001g0117a0001c0001t0001g0118 | 2 | HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-89+1987A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144233689 | ||||||
| chr2:144234066
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-89+1610G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144234066 | ||||||
| chr2:144234719
|
A | G | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-89+957T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144234719 | ||||||
| chr2:144234834
|
G | C | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-89+842C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144234834 | ||||||
| chr2:144234976
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-89+700T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144234976 | ||||||
| chr2:144235378
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-89+298T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144235378 | ||||||
| chr2:144235634
|
C | T | 35 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(32): Show | 35 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(32): Show |
intron_variant | MODIFIER | c.-89+42G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | 144235634 | ||||||
| chr2:144235959
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-222C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144235959 | ||||||
| chr2:144235981
|
T | A | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-150-244A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144235981 | ||||||
| chr2:144236494
|
A | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-150-757T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144236494 | ||||||
| chr2:144237054
|
A | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-1317T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237054 | ||||||
| chr2:144237294
|
T | TA | 8 | a0001c0001t0004g0055a0001c0001t0015g0011a0001c0001t0015g0017others(5): Show | 8 | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(5): Show |
intron_variant | MODIFIER | c.-150-1558dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237294 | ||||||
| chr2:144237500
|
C | T | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-150-1763G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237500 | ||||||
| chr2:144237708
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-1971T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237708 | ||||||
| chr2:144237822
|
T | A | 1 | a0002c0002t0006g0065 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-150-2085A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237822 | ||||||
| chr2:144237999
|
G | C | 6 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(3): Show | 6 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-150-2262C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144237999 | ||||||
| chr2:144238087
|
C | T | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-150-2350G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144238087 | ||||||
| chr2:144238101
|
C | T | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-150-2364G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144238101 | ||||||
| chr2:144238480
|
T | C | 22 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0112others(19): Show | 22 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.-150-2743A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144238480 | ||||||
| chr2:144238660
|
A | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-150-2923T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144238660 | ||||||
| chr2:144238739
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-3002G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144238739 | ||||||
| chr2:144239151
|
G | A | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-150-3414C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239151 | ||||||
| chr2:144239167
|
G | A | 50 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0097others(47): Show | 50 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(47): Show |
intron_variant | MODIFIER | c.-150-3430C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239167 | ||||||
| chr2:144239206
|
ACAAGCTA others(1): Show |
A | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-150-3477_-150-347 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239206 | ||||||
| chr2:144239223
|
A | C | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-150-3486T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239223 | ||||||
| chr2:144239225
|
A | T | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-150-3488T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239225 | ||||||
| chr2:144239398
|
C | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-3661G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239398 | ||||||
| chr2:144239515
|
T | C | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-150-3778A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239515 | ||||||
| chr2:144239700
|
C | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-3963G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239700 | ||||||
| chr2:144239854
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-150-4117T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144239854 | ||||||
| chr2:144240249
|
C | A | 1 | a0001c0001t0001g0006 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-150-4512G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144240249 | ||||||
| chr2:144240764
|
G | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-5027C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144240764 | ||||||
| chr2:144241019
|
G | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-5282C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144241019 | ||||||
| chr2:144241132
|
C | G | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-150-5395G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144241132 | ||||||
| chr2:144241686
|
T | C | 2 | a0001c0001t0002g0021a0001c0001t0002g0023 | 2 | HG02027.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.-150-5949A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144241686 | ||||||
| chr2:144241973
|
A | G | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-150-6236T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144241973 | ||||||
| chr2:144241998
|
T | C | 2 | a0001c0001t0038g0079a0007c0009t0025g0078 | 2 | HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-150-6261A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144241998 | ||||||
| chr2:144242560
|
G | C | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-150-6823C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242560 | ||||||
| chr2:144242700
|
G | A | 5 | a0001c0001t0015g0011a0001c0001t0015g0017a0001c0001t0037g0025others(2): Show | 5 | HG00323.hp2 HG00438.hp2 HG00738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-150-6963C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242700 | ||||||
| chr2:144242728
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-6991C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242728 | ||||||
| chr2:144242790
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-7053G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242790 | ||||||
| chr2:144242791
|
G | A | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-150-7054C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242791 | ||||||
| chr2:144242832
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-150-7095A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242832 | ||||||
| chr2:144242960
|
T | TA | 8 | a0001c0001t0001g0012a0001c0001t0004g0015a0001c0001t0013g0062others(5): Show | 8 | HG00738.hp1 HG01081.hp2 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-150-7224dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA | 4 | a0001c0001t0005g0090a0001c0003t0001g0105a0001c0003t0018g0084others(1): Show | 4 | HG02717.hp2 HG02723.hp1 NA19240.hp2 others(1): Show |
intron_variant | MODIFIER | c.-150-7230_-150-722 others(11): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(3): Show |
3 | a0001c0001t0001g0112a0001c0001t0012g0092a0004c0006t0026g0081 | 3 | HG02630.hp1 HG03490.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.-150-7233_-150-722 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(4): Show |
4 | a0001c0001t0002g0010a0001c0001t0002g0033a0001c0001t0042g0110others(1): Show | 4 | HG02976.hp2 HG03471.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.-150-7234_-150-722 others(15): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(5): Show |
15 | a0001c0001t0002g0013a0001c0001t0002g0021a0001c0001t0002g0022others(12): Show | 15 | HG00140.hp2 HG02155.hp2 HG02622.hp1 others(12): Show |
intron_variant | MODIFIER | c.-150-7235_-150-722 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(6): Show |
4 | a0001c0001t0001g0097a0001c0001t0002g0014a0001c0001t0002g0023others(1): Show | 4 | HG02027.hp2 HG02055.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-150-7236_-150-722 others(17): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(7): Show |
1 | a0001c0001t0001g0124 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-150-7237_-150-722 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(9): Show |
1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-150-7239_-150-722 others(20): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(10): Show |
1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-150-7240_-150-722 others(21): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
T | TAAAAAAA others(12): Show |
1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-150-7242_-150-722 others(23): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
TA | T | 6 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0016g0044others(3): Show | 6 | HG01975.hp2 HG02055.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.-150-7224delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144242960
|
TAAA | T | 7 | a0001c0001t0002g0094a0001c0001t0007g0093a0001c0014t0003g0089others(4): Show | 7 | HG01358.hp1 HG01975.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.-150-7226_-150-722 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144242960 | ||||||
| chr2:144243202
|
T | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-7465A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144243202 | ||||||
| chr2:144243474
|
G | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-7737C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144243474 | ||||||
| chr2:144243647
|
T | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-150-7910A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144243647 | ||||||
| chr2:144243760
|
C | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-8023G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144243760 | ||||||
| chr2:144243825
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-8088T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144243825 | ||||||
| chr2:144244251
|
G | A | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-150-8514C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144244251 | ||||||
| chr2:144244569
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-150-8832T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144244569 | ||||||
| chr2:144244691
|
T | C | 2 | a0001c0001t0004g0020a0001c0001t0016g0009 | 2 | NA18980.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.-150-8954A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144244691 | ||||||
| chr2:144244758
|
C | CA | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-150-9022dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144244758 | ||||||
| chr2:144246430
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-10693C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246430 | ||||||
| chr2:144246514
|
C | A | 51 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(48): Show | 51 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(48): Show |
intron_variant | MODIFIER | c.-150-10777G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246514 | ||||||
| chr2:144246566
|
C | T | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-150-10829G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246566 | ||||||
| chr2:144246579
|
C | CA | 31 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(28): Show | 31 | HG01358.hp1 HG01975.hp1 HG02027.hp2 others(28): Show |
intron_variant | MODIFIER | c.-150-10843dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246579 | ||||||
| chr2:144246579
|
CAAAAAAA others(5): Show |
C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-10854_-150-10 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246579 | ||||||
| chr2:144246667
|
T | A | 1 | a0001c0001t0028g0034 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-150-10930A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246667 | ||||||
| chr2:144246729
|
C | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-150-10992G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144246729 | ||||||
| chr2:144247275
|
A | G | 2 | a0001c0001t0001g0097a0001c0001t0013g0096 | 2 | HG02055.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-150-11538T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144247275 | ||||||
| chr2:144247997
|
G | GT | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-150-12261dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144247997 | ||||||
| chr2:144248142
|
A | C | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-150-12405T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248142 | ||||||
| chr2:144248162
|
A | G | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-150-12425T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248162 | ||||||
| chr2:144248330
|
T | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-12593A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248330 | ||||||
| chr2:144248536
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-12799G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248536 | ||||||
| chr2:144248732
|
A | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-150-12995T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248732 | ||||||
| chr2:144248748
|
T | TA | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-150-13012dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248748 | ||||||
| chr2:144248956
|
G | A | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-150-13219C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248956 | ||||||
| chr2:144248971
|
C | A | 2 | a0001c0001t0001g0027a0001c0001t0017g0028 | 2 | NA18960.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.-150-13234G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144248971 | ||||||
| chr2:144249706
|
T | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-13969A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144249706 | ||||||
| chr2:144249723
|
T | C | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-150-13986A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144249723 | ||||||
| chr2:144249739
|
A | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-150-14002T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144249739 | ||||||
| chr2:144250123
|
GT | G | 25 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0124others(22): Show | 25 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(22): Show |
intron_variant | MODIFIER | c.-150-14387delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250123 | ||||||
| chr2:144250134
|
T | G | 2 | a0001c0001t0001g0058a0001c0001t0003g0100 | 2 | HG03139.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.-150-14397A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250134 | ||||||
| chr2:144250135
|
T | G | 4 | a0001c0001t0001g0041a0001c0001t0001g0067a0001c0001t0017g0028others(1): Show | 4 | HG00735.hp1 HG04184.hp2 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.-150-14398A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250135 | ||||||
| chr2:144250135
|
TG | T | 23 | a0001c0001t0003g0100a0001c0001t0003g0103a0001c0001t0008g0104others(20): Show | 23 | HG01243.hp2 HG02622.hp1 HG02630.hp1 others(20): Show |
intron_variant | MODIFIER | c.-150-14399delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250135 | ||||||
| chr2:144250136
|
G | T | 61 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(58): Show | 61 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.-150-14399C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250136 | ||||||
| chr2:144250289
|
A | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-14552T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250289 | ||||||
| chr2:144250499
|
T | C | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.-150-14762A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250499 | ||||||
| chr2:144250751
|
G | GA | 8 | a0001c0001t0001g0007a0001c0001t0001g0027a0001c0001t0001g0072others(5): Show | 8 | HG02559.hp2 HG02630.hp2 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.-150-15015dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250751 | ||||||
| chr2:144250751
|
GA | G | 43 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(40): Show | 43 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(40): Show |
intron_variant | MODIFIER | c.-150-15015delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144250751 | ||||||
| chr2:144251141
|
C | T | 1 | a0002c0002t0001g0066 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.-150-15404G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144251141 | ||||||
| chr2:144251144
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-150-15407A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144251144 | ||||||
| chr2:144251331
|
T | C | 17 | a0001c0001t0038g0079a0001c0003t0001g0105a0001c0003t0003g0107others(14): Show | 17 | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.-150-15594A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144251331 | ||||||
| chr2:144251806
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-16069T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144251806 | ||||||
| chr2:144252026
|
C | T | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-150-16289G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252026 | ||||||
| chr2:144252046
|
T | C | 1 | a0002c0002t0031g0054 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-150-16309A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252046 | ||||||
| chr2:144252241
|
GAC | G | 3 | a0001c0014t0003g0089a0003c0004t0014g0083a0003c0004t0014g0087 | 3 | HG03195.hp2 HG03471.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-150-16506_-150-16 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252241 | ||||||
| chr2:144252371
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-150-16634G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252371 | ||||||
| chr2:144252611
|
C | A | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-16874G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252611 | ||||||
| chr2:144252717
|
C | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-16980G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252717 | ||||||
| chr2:144252745
|
A | G | 51 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(48): Show | 51 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(48): Show |
intron_variant | MODIFIER | c.-150-17008T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252745 | ||||||
| chr2:144252798
|
A | C | 1 | a0001c0001t0001g0032 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-150-17061T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252798 | ||||||
| chr2:144252912
|
G | A | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-150-17175C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144252912 | ||||||
| chr2:144253011
|
C | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-150-17274G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253011 | ||||||
| chr2:144253192
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-17455C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253192 | ||||||
| chr2:144253338
|
G | A | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-150-17601C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253338 | ||||||
| chr2:144253346
|
G | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-150-17609C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253346 | ||||||
| chr2:144253508
|
C | T | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-150-17771G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253508 | ||||||
| chr2:144253509
|
G | A | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-150-17772C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253509 | ||||||
| chr2:144253553
|
T | G | 2 | a0001c0001t0015g0011a0002c0002t0011g0039 | 2 | HG00738.hp1 HG00738.hp2 |
intron_variant | MODIFIER | c.-150-17816A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253553 | ||||||
| chr2:144253815
|
G | A | 51 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(48): Show | 51 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(48): Show |
intron_variant | MODIFIER | c.-150-18078C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144253815 | ||||||
| chr2:144254809
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-150-19072C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144254809 | ||||||
| chr2:144254914
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-19177T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144254914 | ||||||
| chr2:144254963
|
G | C | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-150-19226C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144254963 | ||||||
| chr2:144255045
|
C | T | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-19308G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255045 | ||||||
| chr2:144255180
|
C | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-19443G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255180 | ||||||
| chr2:144255360
|
A | C | 1 | a0001c0001t0013g0062 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.-150-19623T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255360 | ||||||
| chr2:144255404
|
G | A | 2 | a0001c0001t0015g0011a0002c0002t0011g0039 | 2 | HG00738.hp1 HG00738.hp2 |
intron_variant | MODIFIER | c.-150-19667C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255404 | ||||||
| chr2:144255405
|
T | C | 1 | a0001c0001t0041g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-150-19668A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255405 | ||||||
| chr2:144255436
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-150-19699C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255436 | ||||||
| chr2:144255456
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-19719C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255456 | ||||||
| chr2:144255542
|
T | C | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-19805A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255542 | ||||||
| chr2:144255617
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-150-19880C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255617 | ||||||
| chr2:144255801
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-20064T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255801 | ||||||
| chr2:144255901
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-20164G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255901 | ||||||
| chr2:144255944
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-20207C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144255944 | ||||||
| chr2:144256111
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-150-20374A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144256111 | ||||||
| chr2:144256493
|
C | T | 4 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093others(1): Show | 4 | HG01358.hp1 HG01975.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.-150-20756G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144256493 | ||||||
| chr2:144257087
|
G | GA | 41 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0041others(38): Show | 41 | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(38): Show |
intron_variant | MODIFIER | c.-150-21351dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257087 | ||||||
| chr2:144257087
|
GA | G | 4 | a0001c0001t0001g0112a0001c0001t0002g0094a0001c0001t0007g0093others(1): Show | 4 | HG01358.hp1 HG01975.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.-150-21351delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257087 | ||||||
| chr2:144257107
|
AC | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-21371delG | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257107 | ||||||
| chr2:144257113
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-21376C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257113 | ||||||
| chr2:144257314
|
C | G | 2 | a0001c0001t0001g0097a0001c0001t0013g0096 | 2 | HG02055.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-150-21577G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257314 | ||||||
| chr2:144257557
|
C | G | 2 | a0001c0001t0002g0094a0001c0001t0007g0093 | 2 | HG01358.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.-150-21820G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257557 | ||||||
| chr2:144257670
|
C | T | 1 | a0001c0001t0009g0098 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-150-21933G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257670 | ||||||
| chr2:144257917
|
AAAG | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-22183_-150-22 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144257917 | ||||||
| chr2:144258178
|
G | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-150-22441C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144258178 | ||||||
| chr2:144258230
|
AAC | A | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-22495_-150-22 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144258230 | ||||||
| chr2:144258232
|
C | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-22495G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144258232 | ||||||
| chr2:144258238
|
C | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-22501G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144258238 | ||||||
| chr2:144258397
|
G | A | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-150-22660C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144258397 | ||||||
| chr2:144259402
|
A | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-23665T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144259402 | ||||||
| chr2:144259570
|
C | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-23833G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144259570 | ||||||
| chr2:144259728
|
T | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-23991A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144259728 | ||||||
| chr2:144259808
|
C | CCCCAGAC others(309): Show |
1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-24072_-150-24 others(322): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144259808 | ||||||
| chr2:144259969
|
G | A | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-150-24232C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144259969 | ||||||
| chr2:144260048
|
C | T | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-150-24311G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144260048 | ||||||
| chr2:144260164
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-24427G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144260164 | ||||||
| chr2:144260280
|
T | G | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-150-24543A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144260280 | ||||||
| chr2:144260786
|
AATAAATA others(4): Show |
A | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-150-25060_-150-25 others(17): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144260786 | ||||||
| chr2:144261362
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-25625T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144261362 | ||||||
| chr2:144261467
|
T | A | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-25730A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144261467 | ||||||
| chr2:144261620
|
G | A | 23 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0124others(20): Show | 23 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.-150-25883C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144261620 | ||||||
| chr2:144261678
|
A | G | 2 | a0001c0001t0037g0025a0002c0002t0035g0026 | 2 | HG00438.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.-150-25941T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144261678 | ||||||
| chr2:144261720
|
A | G | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-150-25983T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144261720 | ||||||
| chr2:144262237
|
G | A | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-150-26500C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262237 | ||||||
| chr2:144262301
|
G | A | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-150-26564C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262301 | ||||||
| chr2:144262501
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0017g0028 | 2 | NA18960.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.-150-26764A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262501 | ||||||
| chr2:144262569
|
C | CA | 118 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(115): Show | 118 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(115): Show |
intron_variant | MODIFIER | c.-150-26833dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262569 | ||||||
| chr2:144262615
|
T | C | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-26878A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262615 | ||||||
| chr2:144262734
|
T | TGGGAGGA others(13): Show |
2 | a0001c0001t0001g0112a0001c0001t0012g0092 | 2 | HG03490.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.-150-27017_-150-26 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262734 | ||||||
| chr2:144262741
|
A | G | 1 | a0004c0006t0001g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-150-27004T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262741 | ||||||
| chr2:144262906
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-150-27169C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262906 | ||||||
| chr2:144262941
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-150-27204C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262941 | ||||||
| chr2:144262945
|
G | GGGAGAGG others(8): Show |
1 | a0001c0001t0002g0073 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-150-27209_-150-27 others(21): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262945 | ||||||
| chr2:144262949
|
T | G | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-150-27212A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262949 | ||||||
| chr2:144262971
|
A | AGGGAGGA others(8): Show |
3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-150-27249_-150-27 others(21): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262971 | ||||||
| chr2:144262978
|
A | AGAGGGGA others(23): Show |
2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-150-27271_-150-27 others(36): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144262978 | ||||||
| chr2:144263036
|
T | C | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-150-27299A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263036 | ||||||
| chr2:144263305
|
C | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-150-27568G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263305 | ||||||
| chr2:144263319
|
C | T | 1 | a0002c0002t0009g0038 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-150-27582G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263319 | ||||||
| chr2:144263597
|
G | A | 1 | a0001c0001t0019g0099 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-150-27860C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263597 | ||||||
| chr2:144263836
|
A | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-150-28099T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263836 | ||||||
| chr2:144263947
|
G | A | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-28210C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144263947 | ||||||
| chr2:144264202
|
C | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-150-28465G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144264202 | ||||||
| chr2:144264360
|
C | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-150-28623G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144264360 | ||||||
| chr2:144264505
|
T | C | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-150-28768A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144264505 | ||||||
| chr2:144265297
|
C | T | 3 | a0001c0001t0004g0015a0001c0001t0004g0020a0001c0001t0016g0009 | 3 | NA18980.hp2 NA19003.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.-150-29560G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144265297 | ||||||
| chr2:144265416
|
G | A | 2 | a0002c0005t0001g0029a0010c0007t0001g0085 | 2 | HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-150-29679C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144265416 | ||||||
| chr2:144265583
|
G | A | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-150-29846C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144265583 | ||||||
| chr2:144265681
|
C | T | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-150-29944G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144265681 | ||||||
| chr2:144266198
|
T | C | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-30461A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144266198 | ||||||
| chr2:144266456
|
T | C | 4 | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0011g0074others(1): Show | 4 | HG02027.hp1 HG02155.hp1 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.-150-30719A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144266456 | ||||||
| chr2:144266523
|
G | C | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-30786C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144266523 | ||||||
| chr2:144266626
|
G | A | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-30889C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144266626 | ||||||
| chr2:144266973
|
T | C | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-150-31236A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144266973 | ||||||
| chr2:144267339
|
A | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-31602T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144267339 | ||||||
| chr2:144267376
|
T | C | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-150-31639A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144267376 | ||||||
| chr2:144267939
|
T | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-150-32202A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144267939 | ||||||
| chr2:144268020
|
T | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-150-32283A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144268020 | ||||||
| chr2:144268074
|
T | C | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.-150-32337A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144268074 | ||||||
| chr2:144268317
|
C | T | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-150-32580G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144268317 | ||||||
| chr2:144268797
|
A | AT | 23 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(20): Show | 23 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.-150-33061dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144268797 | ||||||
| chr2:144268859
|
G | A | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-150-33122C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144268859 | ||||||
| chr2:144269531
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-150-33794A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144269531 | ||||||
| chr2:144269827
|
T | TA | 21 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0124others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.-150-34091dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144269827 | ||||||
| chr2:144269887
|
A | G | 40 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(37): Show |
intron_variant | MODIFIER | c.-150-34150T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144269887 | ||||||
| chr2:144269922
|
C | T | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-34185G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144269922 | ||||||
| chr2:144269984
|
A | G | 2 | a0001c0003t0001g0105a0001c0003t0036g0106 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-150-34247T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144269984 | ||||||
| chr2:144270319
|
G | A | 1 | a0002c0002t0002g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-150-34582C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144270319 | ||||||
| chr2:144270548
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-150-34811T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144270548 | ||||||
| chr2:144270550
|
A | G | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-150-34813T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144270550 | ||||||
| chr2:144270969
|
A | G | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-150-35232T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144270969 | ||||||
| chr2:144271436
|
T | C | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-150-35699A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144271436 | ||||||
| chr2:144272513
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-36776G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144272513 | ||||||
| chr2:144272629
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-150-36892A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144272629 | ||||||
| chr2:144272747
|
G | A | 2 | a0002c0005t0001g0029a0010c0007t0001g0085 | 2 | HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-150-37010C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144272747 | ||||||
| chr2:144273146
|
TCAC | T | 2 | a0002c0005t0001g0029a0010c0007t0001g0085 | 2 | HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-150-37412_-150-37 others(9): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273146 | ||||||
| chr2:144273204
|
A | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-37467T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273204 | ||||||
| chr2:144273478
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-150-37741G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273478 | ||||||
| chr2:144273863
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-38126G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273863 | ||||||
| chr2:144273895
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-38158C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273895 | ||||||
| chr2:144273909
|
G | A | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-150-38172C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273909 | ||||||
| chr2:144273926
|
G | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-150-38189C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144273926 | ||||||
| chr2:144274008
|
C | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-38271G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274008 | ||||||
| chr2:144274049
|
G | A | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-150-38312C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274049 | ||||||
| chr2:144274168
|
T | C | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-150-38431A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274168 | ||||||
| chr2:144274363
|
T | C | 8 | a0001c0001t0002g0013a0001c0001t0002g0014a0001c0001t0002g0021others(5): Show | 8 | HG02027.hp2 HG02155.hp2 NA18951.hp2 others(5): Show |
intron_variant | MODIFIER | c.-150-38626A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274363 | ||||||
| chr2:144274452
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-38715C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274452 | ||||||
| chr2:144274596
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-38859G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144274596 | ||||||
| chr2:144276037
|
C | T | 1 | a0001c0003t0036g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-150-40300G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276037 | ||||||
| chr2:144276214
|
T | A | 22 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0112others(19): Show | 22 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.-150-40477A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276214 | ||||||
| chr2:144276372
|
T | C | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-150-40635A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276372 | ||||||
| chr2:144276676
|
T | C | 2 | a0002c0005t0001g0029a0010c0007t0001g0085 | 2 | HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-150-40939A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276676 | ||||||
| chr2:144276685
|
T | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-40948A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276685 | ||||||
| chr2:144276704
|
T | G | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-150-40967A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276704 | ||||||
| chr2:144276812
|
T | C | 15 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(12): Show | 15 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.-150-41075A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144276812 | ||||||
| chr2:144277698
|
C | G | 2 | a0002c0005t0001g0029a0010c0007t0001g0085 | 2 | HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-150-41961G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144277698 | ||||||
| chr2:144277938
|
A | G | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-150-42201T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144277938 | ||||||
| chr2:144278165
|
C | T | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-150-42428G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278165 | ||||||
| chr2:144278190
|
G | A | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-150-42453C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278190 | ||||||
| chr2:144278323
|
A | G | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-150-42586T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278323 | ||||||
| chr2:144278382
|
T | C | 1 | a0001c0001t0012g0092 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-150-42645A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278382 | ||||||
| chr2:144278468
|
A | G | 2 | a0002c0002t0010g0030a0002c0002t0010g0031 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.-150-42731T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278468 | ||||||
| chr2:144278541
|
C | CT | 7 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(4): Show | 7 | HG02622.hp1 HG02647.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.-150-42805dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278541 | ||||||
| chr2:144278541
|
C | CTT | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-150-42806_-150-42 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144278541 | ||||||
| chr2:144279236
|
T | G | 1 | a0001c0001t0001g0072 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.-150-43499A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279236 | ||||||
| chr2:144279371
|
A | G | 1 | a0002c0002t0002g0005 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-150-43634T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279371 | ||||||
| chr2:144279373
|
G | GA | 11 | a0001c0001t0001g0032a0001c0001t0001g0049a0001c0001t0015g0017others(8): Show | 11 | HG00323.hp1 HG02630.hp1 HG03017.hp1 others(8): Show |
intron_variant | MODIFIER | c.-150-43637dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279373 | ||||||
| chr2:144279739
|
T | C | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-150-44002A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279739 | ||||||
| chr2:144279830
|
C | G | 1 | a0004c0006t0026g0081 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.-150-44093G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279830 | ||||||
| chr2:144279930
|
G | C | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-150-44193C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279930 | ||||||
| chr2:144279996
|
G | C | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-150-44259C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144279996 | ||||||
| chr2:144280060
|
T | C | 1 | a0001c0001t0001g0058 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-150-44323A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144280060 | ||||||
| chr2:144280125
|
T | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-150-44388A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144280125 | ||||||
| chr2:144281032
|
A | G | 14 | a0001c0001t0001g0124a0001c0001t0024g0123a0001c0003t0001g0105others(11): Show | 14 | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.-150-45295T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281032 | ||||||
| chr2:144281052
|
T | A | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-150-45315A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281052 | ||||||
| chr2:144281059
|
G | A | 1 | a0002c0002t0001g0050 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-150-45322C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281059 | ||||||
| chr2:144281152
|
A | G | 1 | a0002c0002t0030g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-150-45415T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281152 | ||||||
| chr2:144281395
|
C | CA | 26 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0043others(23): Show | 26 | HG00408.hp1 HG00408.hp2 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.-150-45659dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281395 | ||||||
| chr2:144281395
|
C | CAA | 6 | a0001c0001t0002g0022a0001c0001t0004g0015a0001c0001t0007g0093others(3): Show | 6 | HG00438.hp2 HG01358.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.-150-45660_-150-45 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281395 | ||||||
| chr2:144281395
|
CA | C | 50 | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0041others(47): Show | 50 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(47): Show |
intron_variant | MODIFIER | c.-150-45659delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281395 | ||||||
| chr2:144281866
|
T | G | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-150-46129A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144281866 | ||||||
| chr2:144282971
|
T | A | 1 | a0002c0005t0001g0086 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-150-47234A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144282971 | ||||||
| chr2:144283359
|
C | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-150-47622G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283359 | ||||||
| chr2:144283413
|
T | C | 6 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(3): Show | 6 | HG00735.hp2 HG02559.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-150-47676A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283413 | ||||||
| chr2:144283441
|
T | C | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-150-47704A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283441 | ||||||
| chr2:144283450
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-150-47713G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283450 | ||||||
| chr2:144283686
|
A | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-47949T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283686 | ||||||
| chr2:144283687
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-47950G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283687 | ||||||
| chr2:144283706
|
A | T | 1 | a0007c0009t0025g0078 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-150-47969T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283706 | ||||||
| chr2:144283804
|
C | T | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-150-48067G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283804 | ||||||
| chr2:144283879
|
T | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-150-48142A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144283879 | ||||||
| chr2:144284047
|
T | G | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-150-48310A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284047 | ||||||
| chr2:144284158
|
GT | G | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-151+48280delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284158 | ||||||
| chr2:144284181
|
T | G | 2 | a0001c0003t0001g0105a0001c0003t0036g0106 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-151+48258A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284181 | ||||||
| chr2:144284393
|
A | T | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+48046T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284393 | ||||||
| chr2:144284567
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-151+47872G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284567 | ||||||
| chr2:144284638
|
A | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+47801T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284638 | ||||||
| chr2:144284735
|
G | A | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-151+47704C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284735 | ||||||
| chr2:144284927
|
G | A | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+47512C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284927 | ||||||
| chr2:144284933
|
C | CT | 18 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0003t0001g0105others(15): Show | 18 | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(15): Show |
intron_variant | MODIFIER | c.-151+47505dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284933 | ||||||
| chr2:144284933
|
CT | C | 10 | a0001c0001t0001g0067a0001c0001t0002g0033a0001c0001t0004g0055others(7): Show | 10 | HG00323.hp1 HG00323.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+47505delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284933 | ||||||
| chr2:144284960
|
G | A | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+47479C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284960 | ||||||
| chr2:144284988
|
C | T | 1 | a0002c0002t0002g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-151+47451G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144284988 | ||||||
| chr2:144285002
|
A | AG | 51 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(48): Show | 51 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(48): Show |
intron_variant | MODIFIER | c.-151+47436dupC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144285002 | ||||||
| chr2:144285180
|
A | G | 51 | a0001c0001t0001g0012a0001c0001t0001g0097a0001c0001t0001g0112others(48): Show | 51 | HG00140.hp2 HG01243.hp2 HG01358.hp1 others(48): Show |
intron_variant | MODIFIER | c.-151+47259T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144285180 | ||||||
| chr2:144285263
|
C | T | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-151+47176G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144285263 | ||||||
| chr2:144285867
|
T | C | 19 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(16): Show | 19 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(16): Show |
intron_variant | MODIFIER | c.-151+46572A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144285867 | ||||||
| chr2:144285969
|
T | C | 9 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(6): Show | 9 | HG02055.hp1 HG02647.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.-151+46470A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144285969 | ||||||
| chr2:144286944
|
C | A | 1 | a0001c0001t0037g0025 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-151+45495G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144286944 | ||||||
| chr2:144287153
|
T | C | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-151+45286A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287153 | ||||||
| chr2:144287333
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+45106C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287333 | ||||||
| chr2:144287396
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-151+45043C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287396 | ||||||
| chr2:144287438
|
C | CA | 27 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0117others(24): Show | 27 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(24): Show |
intron_variant | MODIFIER | c.-151+45000dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287438 | ||||||
| chr2:144287647
|
C | T | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-151+44792G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287647 | ||||||
| chr2:144287862
|
T | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+44577A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287862 | ||||||
| chr2:144287918
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+44521C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287918 | ||||||
| chr2:144287924
|
G | T | 1 | a0001c0003t0003g0108 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-151+44515C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144287924 | ||||||
| chr2:144288013
|
C | A | 3 | a0001c0014t0003g0089a0003c0004t0005g0088a0003c0004t0014g0083 | 3 | HG02809.hp1 HG03195.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-151+44426G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288013 | ||||||
| chr2:144288043
|
C | T | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+44396G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288043 | ||||||
| chr2:144288134
|
G | T | 21 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0124others(18): Show | 21 | HG00140.hp2 HG01358.hp1 HG01975.hp1 others(18): Show |
intron_variant | MODIFIER | c.-151+44305C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288134 | ||||||
| chr2:144288375
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+44064A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288375 | ||||||
| chr2:144288391
|
A | G | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+44048T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288391 | ||||||
| chr2:144288552
|
A | G | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+43887T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288552 | ||||||
| chr2:144288717
|
T | A | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+43722A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288717 | ||||||
| chr2:144288798
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-151+43641A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288798 | ||||||
| chr2:144288854
|
C | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-151+43585G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144288854 | ||||||
| chr2:144289029
|
C | CT | 5 | a0001c0001t0001g0032a0001c0001t0002g0013a0001c0001t0002g0014others(2): Show | 5 | HG03017.hp1 HG03017.hp2 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+43409dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289029 | ||||||
| chr2:144289029
|
CT | C | 28 | a0001c0001t0001g0097a0001c0001t0002g0022a0001c0001t0003g0103others(25): Show | 28 | HG02055.hp1 HG02559.hp2 HG02622.hp1 others(25): Show |
intron_variant | MODIFIER | c.-151+43409delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289029 | ||||||
| chr2:144289080
|
C | G | 1 | a0005c0012t0003g0120 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-151+43359G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289080 | ||||||
| chr2:144289109
|
C | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-151+43330G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289109 | ||||||
| chr2:144289202
|
G | A | 15 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(12): Show | 15 | HG00140.hp2 HG02027.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.-151+43237C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289202 | ||||||
| chr2:144289213
|
A | G | 13 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0003g0103others(10): Show | 13 | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.-151+43226T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289213 | ||||||
| chr2:144289231
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-151+43208A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289231 | ||||||
| chr2:144289346
|
A | G | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+43093T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289346 | ||||||
| chr2:144289420
|
T | C | 5 | a0001c0001t0001g0043a0001c0001t0002g0094a0001c0001t0005g0091others(2): Show | 5 | HG00408.hp2 HG01358.hp1 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.-151+43019A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289420 | ||||||
| chr2:144289553
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-151+42886C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289553 | ||||||
| chr2:144289611
|
A | G | 3 | a0002c0002t0001g0037a0002c0002t0009g0036a0002c0002t0009g0038 | 3 | HG02630.hp2 HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-151+42828T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289611 | ||||||
| chr2:144289868
|
T | A | 12 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(9): Show | 12 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.-151+42571A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289868 | ||||||
| chr2:144289942
|
T | C | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-151+42497A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289942 | ||||||
| chr2:144289960
|
GA | G | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-151+42478delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144289960 | ||||||
| chr2:144290226
|
G | T | 1 | a0001c0001t0002g0010 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-151+42213C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144290226 | ||||||
| chr2:144290273
|
T | C | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-151+42166A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144290273 | ||||||
| chr2:144290689
|
A | T | 1 | a0001c0001t0039g0046 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.-151+41750T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144290689 | ||||||
| chr2:144290735
|
C | T | 2 | a0001c0001t0001g0032a0002c0002t0006g0048 | 2 | HG03017.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-151+41704G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144290735 | ||||||
| chr2:144291265
|
A | G | 1 | a0002c0002t0001g0051 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-151+41174T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144291265 | ||||||
| chr2:144291504
|
T | C | 4 | a0001c0001t0038g0079a0001c0003t0046g0109a0007c0009t0025g0078others(1): Show | 4 | HG01243.hp2 HG02559.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+40935A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144291504 | ||||||
| chr2:144291584
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-151+40855A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144291584 | ||||||
| chr2:144291768
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+40671C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144291768 | ||||||
| chr2:144291990
|
G | C | 12 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0043others(9): Show | 12 | HG00408.hp2 HG00735.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.-151+40449C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144291990 | ||||||
| chr2:144292003
|
G | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+40436C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292003 | ||||||
| chr2:144292015
|
A | G | 9 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(6): Show | 9 | HG02055.hp1 HG02647.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.-151+40424T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292015 | ||||||
| chr2:144292057
|
T | C | 29 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(26): Show | 29 | HG01243.hp2 HG02055.hp1 HG02559.hp2 others(26): Show |
intron_variant | MODIFIER | c.-151+40382A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292057 | ||||||
| chr2:144292059
|
T | C | 2 | a0001c0001t0001g0006a0002c0002t0006g0061 | 2 | HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-151+40380A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292059 | ||||||
| chr2:144292186
|
A | T | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-151+40253T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292186 | ||||||
| chr2:144292300
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+40139C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292300 | ||||||
| chr2:144292519
|
G | A | 2 | a0001c0001t0037g0025a0002c0002t0035g0026 | 2 | HG00438.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.-151+39920C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292519 | ||||||
| chr2:144292706
|
T | C | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-151+39733A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292706 | ||||||
| chr2:144292779
|
T | C | 1 | a0001c0001t0024g0123 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-151+39660A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144292779 | ||||||
| chr2:144293600
|
A | T | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-151+38839T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144293600 | ||||||
| chr2:144293685
|
G | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+38754C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144293685 | ||||||
| chr2:144293863
|
A | T | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-151+38576T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144293863 | ||||||
| chr2:144293906
|
C | T | 1 | a0001c0001t0012g0092 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-151+38533G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144293906 | ||||||
| chr2:144294601
|
ATT | A | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-151+37836_-151+37 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144294601 | ||||||
| chr2:144294614
|
GTA | G | 4 | a0001c0014t0003g0089a0003c0004t0005g0088a0003c0004t0014g0083others(1): Show | 4 | HG02809.hp1 HG03195.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+37823_-151+37 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144294614 | ||||||
| chr2:144294616
|
A | G | 119 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(116): Show | 119 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.-151+37823T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144294616 | ||||||
| chr2:144294870
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+37569G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144294870 | ||||||
| chr2:144295442
|
C | T | 2 | a0001c0003t0003g0107a0001c0003t0003g0108 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-151+36997G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144295442 | ||||||
| chr2:144295678
|
C | T | 2 | a0001c0001t0001g0112a0001c0001t0012g0111 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-151+36761G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144295678 | ||||||
| chr2:144295893
|
C | T | 1 | a0001c0001t0038g0079 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-151+36546G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144295893 | ||||||
| chr2:144295949
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+36490C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144295949 | ||||||
| chr2:144296035
|
A | C | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-151+36404T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144296035 | ||||||
| chr2:144296630
|
T | C | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-151+35809A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144296630 | ||||||
| chr2:144297287
|
G | C | 36 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(33): Show | 36 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(33): Show |
intron_variant | MODIFIER | c.-151+35152C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144297287 | ||||||
| chr2:144297348
|
T | C | 2 | a0001c0001t0002g0021a0001c0001t0002g0023 | 2 | HG02027.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.-151+35091A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144297348 | ||||||
| chr2:144297453
|
G | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+34986C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144297453 | ||||||
| chr2:144297577
|
CT | C | 13 | a0001c0001t0001g0027a0001c0001t0001g0097a0001c0001t0003g0103others(10): Show | 13 | HG02055.hp1 HG02559.hp2 HG02647.hp1 others(10): Show |
intron_variant | MODIFIER | c.-151+34861delA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144297577 | ||||||
| chr2:144298307
|
C | T | 2 | a0001c0001t0002g0033a0001c0001t0041g0035 | 2 | HG00323.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.-151+34132G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144298307 | ||||||
| chr2:144298715
|
G | A | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-151+33724C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144298715 | ||||||
| chr2:144298799
|
A | C | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-151+33640T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144298799 | ||||||
| chr2:144299050
|
G | A | 1 | a0002c0002t0001g0037 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-151+33389C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144299050 | ||||||
| chr2:144299238
|
G | A | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+33201C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144299238 | ||||||
| chr2:144299469
|
G | A | 12 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0043others(9): Show | 12 | HG00408.hp2 HG00735.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.-151+32970C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144299469 | ||||||
| chr2:144299749
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-151+32690G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144299749 | ||||||
| chr2:144299920
|
A | G | 1 | a0001c0001t0001g0115 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-151+32519T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144299920 | ||||||
| chr2:144300023
|
G | A | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-151+32416C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300023 | ||||||
| chr2:144300051
|
A | G | 1 | a0002c0002t0010g0030 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-151+32388T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300051 | ||||||
| chr2:144300193
|
T | G | 2 | a0001c0001t0027g0064a0002c0002t0006g0065 | 2 | HG00140.hp1 HG01243.hp1 |
intron_variant | MODIFIER | c.-151+32246A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300193 | ||||||
| chr2:144300393
|
T | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-151+32046A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300393 | ||||||
| chr2:144300510
|
A | G | 36 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(33): Show | 36 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(33): Show |
intron_variant | MODIFIER | c.-151+31929T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300510 | ||||||
| chr2:144300760
|
TA | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+31678delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300760 | ||||||
| chr2:144300820
|
G | A | 1 | a0001c0003t0001g0105 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-151+31619C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300820 | ||||||
| chr2:144300993
|
T | C | 2 | a0001c0001t0002g0033a0001c0001t0041g0035 | 2 | HG00323.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.-151+31446A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300993 | ||||||
| chr2:144300998
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+31441G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144300998 | ||||||
| chr2:144301099
|
T | G | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-151+31340A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144301099 | ||||||
| chr2:144301268
|
G | A | 1 | a0001c0001t0002g0094 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-151+31171C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144301268 | ||||||
| chr2:144301311
|
T | A | 90 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(87): Show | 90 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.-151+31128A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144301311 | ||||||
| chr2:144301976
|
G | T | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-151+30463C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144301976 | ||||||
| chr2:144302548
|
C | T | 3 | a0001c0001t0002g0094a0001c0001t0007g0093a0001c0001t0012g0092 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.-151+29891G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144302548 | ||||||
| chr2:144302628
|
T | C | 1 | a0001c0001t0001g0067 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-151+29811A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144302628 | ||||||
| chr2:144302734
|
T | C | 36 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(33): Show | 36 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(33): Show |
intron_variant | MODIFIER | c.-151+29705A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144302734 | ||||||
| chr2:144302866
|
C | T | 1 | a0001c0001t0033g0019 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-151+29573G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144302866 | ||||||
| chr2:144302900
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-151+29539C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144302900 | ||||||
| chr2:144303106
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+29333G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303106 | ||||||
| chr2:144303235
|
C | A | 4 | a0001c0014t0003g0089a0003c0004t0005g0088a0003c0004t0014g0083others(1): Show | 4 | HG02809.hp1 HG03195.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+29204G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303235 | ||||||
| chr2:144303365
|
T | G | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-151+29074A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303365 | ||||||
| chr2:144303564
|
G | A | 1 | a0001c0001t0012g0092 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-151+28875C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303564 | ||||||
| chr2:144303917
|
C | T | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+28522G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303917 | ||||||
| chr2:144303918
|
G | A | 5 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+28521C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303918 | ||||||
| chr2:144303927
|
T | C | 15 | a0001c0001t0020g0080a0001c0003t0001g0105a0001c0003t0003g0107others(12): Show | 15 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.-151+28512A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144303927 | ||||||
| chr2:144304034
|
A | C | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+28405T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144304034 | ||||||
| chr2:144304224
|
G | T | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-151+28215C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144304224 | ||||||
| chr2:144304502
|
T | C | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-151+27937A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144304502 | ||||||
| chr2:144304829
|
G | A | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+27610C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144304829 | ||||||
| chr2:144305942
|
C | T | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+26497G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144305942 | ||||||
| chr2:144306049
|
A | C | 3 | a0001c0001t0002g0094a0001c0001t0007g0093a0001c0001t0012g0092 | 3 | HG01358.hp1 HG01975.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.-151+26390T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144306049 | ||||||
| chr2:144306344
|
G | C | 4 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0011g0039others(1): Show | 4 | HG00738.hp2 HG02622.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+26095C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144306344 | ||||||
| chr2:144307021
|
C | T | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-151+25418G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307021 | ||||||
| chr2:144307023
|
T | G | 1 | a0001c0001t0015g0017 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-151+25416A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307023 | ||||||
| chr2:144307051
|
C | T | 1 | a0001c0001t0044g0095 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-151+25388G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307051 | ||||||
| chr2:144307159
|
T | TA | 47 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(44): Show | 47 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.-151+25279dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307159 | ||||||
| chr2:144307159
|
T | TAA | 8 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0002g0033others(5): Show | 8 | HG00735.hp1 HG00738.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.-151+25278_-151+25 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307159 | ||||||
| chr2:144307159
|
TA | T | 9 | a0001c0001t0001g0097a0001c0001t0002g0021a0001c0001t0003g0103others(6): Show | 9 | HG02055.hp1 HG02155.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.-151+25279delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307159 | ||||||
| chr2:144307159
|
TAAAAA | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0073a0002c0002t0001g0066others(2): Show | 5 | HG00140.hp1 HG02135.hp1 HG03942.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+25275_-151+25 others(11): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307159 | ||||||
| chr2:144307159
|
TAAAAAA | T | 8 | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0004g0020others(5): Show | 8 | HG01109.hp1 HG01243.hp1 HG02155.hp1 others(5): Show |
intron_variant | MODIFIER | c.-151+25274_-151+25 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307159 | ||||||
| chr2:144307160
|
A | T | 3 | a0001c0001t0009g0098a0001c0001t0013g0096a0001c0001t0044g0095 | 3 | HG02723.hp2 HG03098.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-151+25279T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307160 | ||||||
| chr2:144307161
|
A | T | 7 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(4): Show | 7 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.-151+25278T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307161 | ||||||
| chr2:144307188
|
TA | T | 4 | a0001c0001t0016g0044a0002c0002t0001g0037a0002c0002t0009g0036others(1): Show | 4 | HG01975.hp2 HG02630.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+25250delT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307188 | ||||||
| chr2:144307238
|
A | G | 1 | a0008c0011t0021g0077 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-151+25201T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307238 | ||||||
| chr2:144307496
|
T | C | 1 | a0002c0002t0002g0005 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-151+24943A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307496 | ||||||
| chr2:144307682
|
T | C | 18 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0003t0001g0105others(15): Show | 18 | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(15): Show |
intron_variant | MODIFIER | c.-151+24757A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307682 | ||||||
| chr2:144307877
|
TTCAA | T | 6 | a0001c0001t0001g0124a0001c0001t0002g0094a0001c0001t0005g0091others(3): Show | 6 | HG01358.hp1 HG01975.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.-151+24558_-151+24 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307877 | ||||||
| chr2:144307923
|
A | T | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-151+24516T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307923 | ||||||
| chr2:144307974
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-151+24465C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144307974 | ||||||
| chr2:144308103
|
T | C | 1 | a0001c0001t0012g0092 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-151+24336A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308103 | ||||||
| chr2:144308107
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+24332G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308107 | ||||||
| chr2:144308162
|
G | GT | 28 | a0001c0001t0001g0007a0001c0001t0001g0041a0001c0001t0001g0069others(25): Show | 28 | HG00735.hp1 HG00735.hp2 HG02027.hp1 others(25): Show |
intron_variant | MODIFIER | c.-151+24276dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308162 | ||||||
| chr2:144308270
|
G | A | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+24169C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308270 | ||||||
| chr2:144308316
|
G | A | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+24123C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308316 | ||||||
| chr2:144308659
|
A | G | 1 | a0001c0001t0012g0092 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.-151+23780T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308659 | ||||||
| chr2:144308688
|
G | A | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+23751C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144308688 | ||||||
| chr2:144309345
|
C | CA | 15 | a0001c0001t0020g0080a0001c0003t0001g0105a0001c0003t0003g0107others(12): Show | 15 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.-151+23093dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144309345 | ||||||
| chr2:144309808
|
T | G | 1 | a0001c0001t0001g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-151+22631A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144309808 | ||||||
| chr2:144310046
|
C | CA | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-151+22392_-151+22 others(7): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310046 | ||||||
| chr2:144310201
|
T | C | 1 | a0001c0001t0015g0011 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-151+22238A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310201 | ||||||
| chr2:144310218
|
G | A | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-151+22221C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310218 | ||||||
| chr2:144310409
|
T | G | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-151+22030A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310409 | ||||||
| chr2:144310628
|
A | G | 1 | a0003c0010t0001g0045 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-151+21811T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310628 | ||||||
| chr2:144310941
|
G | T | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-151+21498C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144310941 | ||||||
| chr2:144311652
|
C | A | 1 | a0001c0001t0007g0047 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-151+20787G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144311652 | ||||||
| chr2:144311745
|
T | C | 15 | a0001c0001t0020g0080a0001c0003t0001g0105a0001c0003t0003g0107others(12): Show | 15 | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.-151+20694A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144311745 | ||||||
| chr2:144311781
|
C | A | 1 | a0010c0007t0001g0085 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-151+20658G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144311781 | ||||||
| chr2:144311783
|
T | C | 1 | a0009c0008t0001g0052 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-151+20656A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144311783 | ||||||
| chr2:144312109
|
G | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+20330C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312109 | ||||||
| chr2:144312181
|
C | CT | 4 | a0001c0001t0003g0100a0001c0001t0013g0062a0001c0003t0003g0107others(1): Show | 4 | HG01081.hp2 HG02976.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+20257dupA | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312181 | ||||||
| chr2:144312554
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+19885G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312554 | ||||||
| chr2:144312683
|
T | C | 1 | a0001c0001t0016g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.-151+19756A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312683 | ||||||
| chr2:144312724
|
G | A | 4 | a0001c0014t0003g0089a0003c0004t0005g0088a0003c0004t0014g0083others(1): Show | 4 | HG02809.hp1 HG03195.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+19715C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312724 | ||||||
| chr2:144312980
|
TG | T | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-151+19458delC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144312980 | ||||||
| chr2:144313208
|
T | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+19231A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313208 | ||||||
| chr2:144313286
|
G | T | 1 | a0002c0002t0035g0026 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.-151+19153C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313286 | ||||||
| chr2:144313373
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-151+19066A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313373 | ||||||
| chr2:144313448
|
T | C | 1 | a0002c0002t0006g0076 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-151+18991A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313448 | ||||||
| chr2:144313462
|
A | G | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-151+18977T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313462 | ||||||
| chr2:144313500
|
C | T | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+18939G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313500 | ||||||
| chr2:144313736
|
A | G | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-151+18703T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313736 | ||||||
| chr2:144313748
|
T | A | 1 | a0001c0001t0017g0028 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-151+18691A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144313748 | ||||||
| chr2:144314405
|
G | A | 4 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0013g0096others(1): Show | 4 | HG02055.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+18034C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144314405 | ||||||
| chr2:144314637
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+17802G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144314637 | ||||||
| chr2:144314700
|
A | G | 37 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(34): Show | 37 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(34): Show |
intron_variant | MODIFIER | c.-151+17739T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144314700 | ||||||
| chr2:144314746
|
G | C | 5 | a0001c0014t0003g0089a0002c0005t0001g0086a0003c0004t0005g0088others(2): Show | 5 | HG02809.hp1 HG02809.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+17693C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144314746 | ||||||
| chr2:144314807
|
C | T | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+17632G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144314807 | ||||||
| chr2:144315112
|
C | T | 1 | a0001c0001t0001g0117 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-151+17327G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144315112 | ||||||
| chr2:144315405
|
C | G | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-151+17034G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144315405 | ||||||
| chr2:144315488
|
T | C | 1 | a0002c0002t0009g0038 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-151+16951A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144315488 | ||||||
| chr2:144315718
|
T | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+16721A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144315718 | ||||||
| chr2:144315982
|
A | T | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+16457T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144315982 | ||||||
| chr2:144316016
|
T | C | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+16423A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144316016 | ||||||
| chr2:144316171
|
T | C | 1 | a0001c0001t0020g0080 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-151+16268A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144316171 | ||||||
| chr2:144316300
|
G | C | 5 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+16139C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144316300 | ||||||
| chr2:144317005
|
C | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+15434G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317005 | ||||||
| chr2:144317376
|
A | AGGAT | 3 | a0001c0003t0003g0108a0004c0006t0026g0081a0010c0007t0001g0085 | 3 | HG02630.hp1 HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-151+15062_-151+15 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317376 | ||||||
| chr2:144317376
|
AGGAAGGA others(1): Show |
A | 2 | a0001c0003t0001g0105a0001c0003t0036g0106 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-151+15055_-151+15 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317376 | ||||||
| chr2:144317380
|
A | T | 10 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0003t0003g0107others(7): Show | 10 | HG02559.hp2 HG02809.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.-151+15059T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317380 | ||||||
| chr2:144317384
|
T | A | 14 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0003t0003g0107others(11): Show | 14 | HG02559.hp2 HG02630.hp1 HG02809.hp1 others(11): Show |
intron_variant | MODIFIER | c.-151+15055A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAA | 16 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0003g0003others(13): Show | 16 | HG00408.hp1 HG00408.hp2 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.-151+15051_-151+15 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAAGGA others(1): Show |
30 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0049others(27): Show | 30 | HG00140.hp1 HG00438.hp2 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.-151+15047_-151+15 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAAGGA others(5): Show |
25 | a0001c0001t0001g0032a0001c0001t0001g0067a0001c0001t0001g0117others(22): Show | 25 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(22): Show |
intron_variant | MODIFIER | c.-151+15043_-151+15 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAAGGA others(9): Show |
13 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(10): Show | 13 | HG00438.hp1 HG01109.hp2 HG01358.hp2 others(10): Show |
intron_variant | MODIFIER | c.-151+15039_-151+15 others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAAGGA others(13): Show |
5 | a0001c0001t0001g0112a0001c0001t0012g0111a0001c0001t0013g0062others(2): Show | 5 | HG01081.hp2 HG02622.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+15035_-151+15 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
T | TGGAAGGA others(21): Show |
1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-151+15027_-151+15 others(34): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
TGGAA | T | 5 | a0001c0001t0001g0097a0001c0001t0009g0098a0001c0001t0019g0099others(2): Show | 5 | HG02055.hp1 HG02723.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-151+15051_-151+15 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
TGGAAGGA others(1): Show |
T | 4 | a0001c0001t0003g0103a0001c0001t0005g0091a0001c0001t0008g0104others(1): Show | 4 | HG02135.hp2 HG02647.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+15047_-151+15 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317384
|
TGGAAGGA others(9): Show |
T | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-151+15039_-151+15 others(22): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317384 | ||||||
| chr2:144317388
|
A | T | 2 | a0001c0003t0001g0105a0001c0003t0036g0106 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-151+15051T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317388 | ||||||
| chr2:144317566
|
A | G | 1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+14873T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317566 | ||||||
| chr2:144317641
|
T | A | 1 | a0002c0002t0011g0039 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-151+14798A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317641 | ||||||
| chr2:144317931
|
TTAAAA | T | 10 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0008g0104others(7): Show | 10 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-151+14503_-151+14 others(11): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144317931 | ||||||
| chr2:144318194
|
A | AAC | 40 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0012others(37): Show | 40 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(37): Show |
intron_variant | MODIFIER | c.-151+14243_-151+14 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACAC | 17 | a0001c0001t0001g0041a0001c0001t0001g0112a0001c0001t0002g0033others(14): Show | 17 | HG00735.hp1 HG01243.hp2 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.-151+14241_-151+14 others(10): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACAC | 5 | a0001c0001t0002g0010a0001c0003t0001g0105a0002c0002t0001g0066others(2): Show | 5 | HG02559.hp2 HG02886.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.-151+14239_-151+14 others(12): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(1): Show |
2 | a0001c0001t0044g0095a0010c0007t0001g0085 | 2 | HG02723.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.-151+14237_-151+14 others(14): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(3): Show |
1 | a0001c0003t0018g0084 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-151+14235_-151+14 others(16): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(5): Show |
3 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0024g0123 | 3 | HG02055.hp1 HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-151+14233_-151+14 others(18): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(7): Show |
4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0013g0096others(1): Show | 4 | HG02647.hp1 HG03225.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+14231_-151+14 others(20): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(11): Show |
1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-151+14227_-151+14 others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
A | AACACACA others(13): Show |
1 | a0001c0001t0040g0102 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-151+14225_-151+14 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318194
|
AAC | A | 6 | a0001c0001t0007g0047a0001c0014t0003g0089a0002c0005t0001g0086others(3): Show | 6 | HG01081.hp1 HG02809.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-151+14243_-151+14 others(8): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318194 | ||||||
| chr2:144318236
|
T | C | 1 | a0001c0001t0008g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-151+14203A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318236 | ||||||
| chr2:144318814
|
T | C | 1 | a0001c0001t0011g0074 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-151+13625A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144318814 | ||||||
| chr2:144319208
|
T | C | 2 | a0002c0002t0006g0076a0002c0002t0029g0075 | 2 | HG01109.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.-151+13231A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144319208 | ||||||
| chr2:144319885
|
T | C | 1 | a0001c0001t0002g0021 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-151+12554A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144319885 | ||||||
| chr2:144320849
|
T | A | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-151+11590A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144320849 | ||||||
| chr2:144320934
|
A | C | 1 | a0003c0004t0014g0083 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-151+11505T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144320934 | ||||||
| chr2:144321208
|
C | T | 6 | a0001c0001t0001g0032a0001c0001t0011g0114a0001c0001t0037g0025others(3): Show | 6 | HG00408.hp1 HG00438.hp2 HG02602.hp2 others(3): Show |
intron_variant | MODIFIER | c.-151+11231G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144321208 | ||||||
| chr2:144321392
|
T | C | 31 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0027others(28): Show | 31 | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(28): Show |
intron_variant | MODIFIER | c.-151+11047A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144321392 | ||||||
| chr2:144321498
|
T | C | 8 | a0001c0001t0001g0049a0002c0002t0001g0050a0002c0002t0001g0051others(5): Show | 8 | HG00323.hp1 HG02258.hp1 HG03017.hp2 others(5): Show |
intron_variant | MODIFIER | c.-151+10941A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144321498 | ||||||
| chr2:144321523
|
T | A | 4 | a0001c0001t0002g0094a0001c0001t0005g0091a0001c0001t0007g0093others(1): Show | 4 | HG01358.hp1 HG01975.hp1 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+10916A>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144321523 | ||||||
| chr2:144321780
|
A | T | 2 | a0001c0001t0044g0095a0002c0002t0010g0063 | 2 | HG02155.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.-151+10659T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144321780 | ||||||
| chr2:144322414
|
G | A | 1 | a0001c0001t0004g0055 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.-151+10025C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144322414 | ||||||
| chr2:144322771
|
C | T | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-151+9668G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144322771 | ||||||
| chr2:144322812
|
G | A | 1 | a0001c0001t0004g0020 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-151+9627C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144322812 | ||||||
| chr2:144322890
|
T | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-151+9549A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144322890 | ||||||
| chr2:144323125
|
G | A | 11 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(8): Show | 11 | HG02055.hp1 HG02622.hp1 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.-151+9314C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144323125 | ||||||
| chr2:144323721
|
A | C | 1 | a0001c0001t0002g0022 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-151+8718T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144323721 | ||||||
| chr2:144324010
|
C | T | 2 | a0001c0001t0027g0064a0002c0002t0006g0065 | 2 | HG00140.hp1 HG01243.hp1 |
intron_variant | MODIFIER | c.-151+8429G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324010 | ||||||
| chr2:144324122
|
G | C | 2 | a0004c0006t0001g0082a0004c0006t0026g0081 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-151+8317C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324122 | ||||||
| chr2:144324222
|
A | C | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+8217T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324222 | ||||||
| chr2:144324504
|
G | A | 1 | a0001c0001t0002g0021 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-151+7935C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324504 | ||||||
| chr2:144324733
|
A | T | 1 | a0001c0001t0005g0091 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-151+7706T>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324733 | ||||||
| chr2:144324853
|
T | TA | 4 | a0001c0001t0001g0007a0001c0001t0001g0112a0001c0001t0002g0113others(1): Show | 4 | HG00140.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+7585dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144324853 | ||||||
| chr2:144325091
|
A | G | 29 | a0001c0001t0001g0097a0001c0001t0003g0103a0001c0001t0005g0090others(26): Show | 29 | HG01243.hp2 HG02055.hp1 HG02559.hp2 others(26): Show |
intron_variant | MODIFIER | c.-151+7348T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144325091 | ||||||
| chr2:144325157
|
A | G | 3 | a0001c0001t0038g0079a0007c0009t0025g0078a0008c0011t0021g0077 | 3 | HG02559.hp2 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.-151+7282T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144325157 | ||||||
| chr2:144325279
|
T | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+7160A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144325279 | ||||||
| chr2:144325874
|
C | T | 1 | a0002c0005t0001g0029 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-151+6565G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144325874 | ||||||
| chr2:144326101
|
G | T | 6 | a0001c0001t0001g0124a0001c0001t0002g0094a0001c0001t0005g0091others(3): Show | 6 | HG01358.hp1 HG01975.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.-151+6338C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144326101 | ||||||
| chr2:144326223
|
T | G | 12 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(9): Show | 12 | HG01243.hp2 HG02723.hp1 HG02809.hp1 others(9): Show |
intron_variant | MODIFIER | c.-151+6216A>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144326223 | ||||||
| chr2:144326369
|
T | C | 2 | a0001c0001t0008g0056a0001c0001t0008g0057 | 2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-151+6070A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144326369 | ||||||
| chr2:144326464
|
G | A | 1 | a0002c0002t0043g0121 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-151+5975C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144326464 | ||||||
| chr2:144326586
|
C | CA | 9 | a0001c0001t0001g0007a0001c0001t0001g0058a0001c0001t0001g0122others(6): Show | 9 | HG00735.hp2 HG02027.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.-151+5852dupT | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144326586 | ||||||
| chr2:144327043
|
C | A | 1 | a0001c0001t0007g0059 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-151+5396G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327043 | ||||||
| chr2:144327076
|
A | G | 4 | a0001c0001t0002g0094a0001c0001t0005g0091a0001c0001t0007g0093others(1): Show | 4 | HG01358.hp1 HG01975.hp1 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.-151+5363T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327076 | ||||||
| chr2:144327146
|
G | A | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-151+5293C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327146 | ||||||
| chr2:144327472
|
C | T | 1 | a0002c0002t0010g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-151+4967G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327472 | ||||||
| chr2:144327483
|
A | G | 2 | a0001c0001t0001g0027a0001c0001t0017g0028 | 2 | NA18960.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.-151+4956T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327483 | ||||||
| chr2:144327499
|
C | T | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-151+4940G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327499 | ||||||
| chr2:144327777
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-151+4662C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327777 | ||||||
| chr2:144327789
|
G | C | 1 | a0006c0013t0045g0101 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-151+4650C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327789 | ||||||
| chr2:144327822
|
A | G | 1 | a0001c0001t0005g0090 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.-151+4617T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327822 | ||||||
| chr2:144327832
|
C | T | 18 | a0001c0001t0020g0080a0001c0001t0038g0079a0001c0003t0001g0105others(15): Show | 18 | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(15): Show |
intron_variant | MODIFIER | c.-151+4607G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327832 | ||||||
| chr2:144327999
|
C | T | 3 | a0001c0001t0001g0006a0001c0001t0013g0062a0002c0002t0006g0061 | 3 | HG01081.hp2 HG01109.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.-151+4440G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144327999 | ||||||
| chr2:144328112
|
G | A | 4 | a0001c0001t0003g0103a0001c0001t0008g0104a0001c0001t0040g0102others(1): Show | 4 | HG02647.hp1 HG03471.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.-151+4327C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144328112 | ||||||
| chr2:144328329
|
A | C | 2 | a0001c0001t0037g0025a0002c0002t0035g0026 | 2 | HG00438.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.-151+4110T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144328329 | ||||||
| chr2:144328362
|
A | G | 1 | a0001c0001t0007g0024 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-151+4077T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144328362 | ||||||
| chr2:144328485
|
C | G | 17 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0002g0010others(14): Show | 17 | HG00140.hp2 HG00738.hp1 HG02027.hp2 others(14): Show |
intron_variant | MODIFIER | c.-151+3954G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144328485 | ||||||
| chr2:144329203
|
T | C | 1 | a0001c0003t0046g0109 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-151+3236A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144329203 | ||||||
| chr2:144329719
|
C | A | 1 | a0002c0002t0001g0060 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-151+2720G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144329719 | ||||||
| chr2:144329976
|
A | G | 1 | a0001c0001t0016g0009 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.-151+2463T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144329976 | ||||||
| chr2:144330363
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-151+2076C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330363 | ||||||
| chr2:144330439
|
C | T | 37 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(34): Show | 37 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(34): Show |
intron_variant | MODIFIER | c.-151+2000G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330439 | ||||||
| chr2:144330503
|
G | A | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-151+1936C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330503 | ||||||
| chr2:144330509
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-151+1930G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330509 | ||||||
| chr2:144330663
|
A | G | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-151+1776T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330663 | ||||||
| chr2:144330696
|
G | A | 17 | a0001c0001t0001g0006a0001c0001t0001g0067a0001c0001t0001g0069others(14): Show | 17 | HG00140.hp1 HG01081.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.-151+1743C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330696 | ||||||
| chr2:144330881
|
T | C | 37 | a0001c0001t0001g0097a0001c0001t0001g0124a0001c0001t0002g0094others(34): Show | 37 | HG01243.hp2 HG01358.hp1 HG01975.hp1 others(34): Show |
intron_variant | MODIFIER | c.-151+1558A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330881 | ||||||
| chr2:144330907
|
C | T | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-151+1532G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330907 | ||||||
| chr2:144330924
|
A | C | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001 | 3 | HG02622.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-151+1515T>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144330924 | ||||||
| chr2:144331194
|
G | T | 1 | a0001c0001t0001g0007 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-151+1245C>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331194 | ||||||
| chr2:144331405
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-151+1034T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331405 | ||||||
| chr2:144331484
|
A | G | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0032g0001 | 3 | HG02622.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-151+955T>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331484 | ||||||
| chr2:144331493
|
C | A | 5 | a0001c0003t0001g0105a0001c0003t0003g0107a0001c0003t0003g0108others(2): Show | 5 | HG01243.hp2 HG02723.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.-151+946G>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331493 | ||||||
| chr2:144331654
|
G | A | 1 | a0001c0001t0042g0110 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-151+785C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331654 | ||||||
| chr2:144331929
|
G | C | 3 | a0001c0001t0001g0112a0001c0001t0002g0113a0001c0001t0012g0111 | 3 | HG00140.hp2 HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.-151+510C>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331929 | ||||||
| chr2:144331935
|
G | A | 1 | a0001c0001t0011g0114 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-151+504C>T | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331935 | ||||||
| chr2:144331960
|
C | G | 1 | a0001c0001t0003g0003 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-151+479G>C | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144331960 | ||||||
| chr2:144332093
|
C | T | 115 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(112): Show | 115 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.-151+346G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144332093 | ||||||
| chr2:144332119
|
T | C | 2 | a0001c0001t0001g0124a0001c0001t0024g0123 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-151+320A>G | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144332119 | ||||||
| chr2:144332182
|
T | TG | 123 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.-151+256dupC | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144332182 | ||||||
| chr2:144332213
|
C | T | 1 | a0002c0002t0032g0001 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-151+226G>A | GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | 144332213 |