| geneid | 83872 |
|---|---|
| ensemblid | ENSG00000143341.12 |
| hgncid | 19194 |
| symbol | HMCN1 |
| name | hemicentin 1 |
| refseq_nuc | NM_031935.3 |
| refseq_prot | NP_114141.2 |
| ensembl_nuc | ENST00000271588.9 |
| ensembl_prot | ENSP00000271588.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 185734391 |
| end | 186190949 |
| strand | + |
| ver | v1.2 |
| region | chr1:185734391-186190949 |
| region5000 | chr1:185729391-186195949 |
| regionname0 | HMCN1_chr1_185734391_186190949 |
| regionname5000 | HMCN1_chr1_185729391_186195949 |
| 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 | 5635 | 18 | 9 | 6 | 3 | 0 | 0 | 2 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002 | 0/0 | 5635 | 7 | 7 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003 | 1/0 | 5635 | 7 | 0 | 2 | 1 | 0 | 3 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0004 | 0/0 | 5635 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0005 | 0/0 | 5635 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0006 | 0/0 | 5635 | 3 | 0 | 1 | 0 | 1 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0007 | 0/0 | 5635 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0008 | 0/0 | 5635 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0009 | 0/0 | 5635 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0010 | 0/0 | 5635 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0011 | 0/0 | 5635 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0012 | 0/0 | 5635 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0013 | 0/0 | 5635 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0014 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0015 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0016 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0017 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0018 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0019 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0020 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0021 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0022 | 0/1 | 5635 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0023 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0024 | 0/0 | 5635 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0025 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0026 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0027 | 0/0 | 5635 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0028 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0029 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0030 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0031 | 0/0 | 5635 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0032 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0033 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0034 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0035 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0036 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0037 | 0/0 | 5635 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0038 | 0/0 | 5635 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0039 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0040 | 0/0 | 5635 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0041 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0042 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0043 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0044 | 0/0 | 5635 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0045 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0046 | 0/0 | 5635 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0047 | 0/0 | 5635 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| 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 | 16908 | 15 | 8 | 4 | 3 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0002 | 0/0 | 16908 | 6 | 5 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0003 | 0/0 | 16908 | 4 | 0 | 2 | 0 | 0 | 2 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0004 | 0/0 | 16908 | 4 | 4 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0005 | 0/0 | 16908 | 3 | 2 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0006 | 0/0 | 16908 | 3 | 0 | 1 | 0 | 1 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0007 | 0/0 | 16908 | 3 | 3 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0008 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0009 | 0/0 | 16908 | 2 | 1 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0010 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0011 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0012 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0013 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0014 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0015 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0016 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0017 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0018 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0019 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0020 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0021 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0022 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0023 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0024 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0025 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0026 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0027 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0028 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0029 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0030 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0031 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0032 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0033 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0034 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0035 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0036 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0037 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0038 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0039 | 1/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0040 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0041 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0042 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0043 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0044 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0045 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0046 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0047 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0048 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0049 | 0/1 | 16908 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0050 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0051 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0052 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0053 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0054 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0055 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0056 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| c0057 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| 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 | 0/1 | 1461 | 59 | 32 | 13 | 5 | 2 | 6 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0002 | 0/0 | 1461 | 19 | 14 | 2 | 1 | 0 | 2 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0003 | 0/0 | 1462 | 6 | 4 | 2 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0004 | 0/0 | 1461 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0005 | 0/0 | 1461 | 2 | 0 | 1 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0006 | 0/0 | 1457 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0007 | 1/0 | 1461 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| t0008 | 0/0 | 1461 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| 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 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0037 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0041 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| 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 | 16908 | 15 | 8 | 4 | 3 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0015 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0027 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0035 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0004 | 0/0 | 16908 | 4 | 4 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0007 | 0/0 | 16908 | 3 | 3 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0003 | 0/0 | 16908 | 4 | 0 | 2 | 0 | 0 | 2 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0018 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0039 | 1/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0043 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0004c0002 | 0/0 | 16908 | 6 | 5 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0005c0005 | 0/0 | 16908 | 3 | 2 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0006c0006 | 0/0 | 16908 | 3 | 0 | 1 | 0 | 1 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0007c0010 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0008c0009 | 0/0 | 16908 | 2 | 1 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0009c0050 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0009c0052 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0010c0051 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0010c0053 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0011c0008 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0012c0016 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0012c0017 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0013c0011 | 0/0 | 16908 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0014c0013 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0015c0012 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0016c0047 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0017c0054 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0018c0046 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0019c0056 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0020c0055 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0021c0057 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0022c0049 | 0/1 | 16908 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0023c0048 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0024c0044 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0025c0045 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0026c0040 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0027c0019 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0028c0020 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0029c0022 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0030c0021 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0031c0023 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0032c0024 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0033c0029 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0034c0031 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0035c0030 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0036c0032 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0037c0038 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0038c0036 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0039c0033 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0040c0034 | 0/0 | 16908 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0041c0028 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0042c0037 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0043c0025 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0044c0041 | 0/0 | 16908 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0045c0026 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0046c0042 | 0/0 | 16908 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0047c0014 | 0/0 | 16908 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 18368 | 9 | 5 | 2 | 2 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0001t0002 | 0/0 | 18368 | 6 | 3 | 2 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0015t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0027t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0001c0035t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0004t0001 | 0/0 | 18368 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0004t0002 | 0/0 | 18368 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0007t0002 | 0/0 | 18368 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0002c0007t0006 | 0/0 | 18364 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0003t0001 | 0/0 | 18368 | 4 | 0 | 2 | 0 | 0 | 2 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0018t0002 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0039t0007 | 1/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0003c0043t0001 | 0/0 | 18368 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0004c0002t0001 | 0/0 | 18368 | 6 | 5 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0005c0005t0003 | 0/0 | 18369 | 3 | 2 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0006c0006t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0006c0006t0002 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0006c0006t0005 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0007c0010t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0007c0010t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0008c0009t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0008c0009t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0009c0050t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0009c0052t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0010c0051t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0010c0053t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0011c0008t0001 | 0/0 | 18368 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0012c0016t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0012c0017t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0013c0011t0004 | 0/0 | 18368 | 2 | 2 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0014c0013t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0015c0012t0008 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0016c0047t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0017c0054t0003 | 0/0 | 18369 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0018c0046t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0019c0056t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0020c0055t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0021c0057t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0022c0049t0001 | 0/1 | 18368 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0023c0048t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0024c0044t0003 | 0/0 | 18369 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0025c0045t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0026c0040t0003 | 0/0 | 18369 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0027c0019t0001 | 0/0 | 18368 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0028c0020t0002 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0029c0022t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0030c0021t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0031c0023t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0032c0024t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0033c0029t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0034c0031t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0035c0030t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0036c0032t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0037c0038t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0038c0036t0005 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0039c0033t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0040c0034t0001 | 0/0 | 18368 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0041c0028t0006 | 0/0 | 18364 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0042c0037t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0043c0025t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0044c0041t0001 | 0/0 | 18368 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0045c0026t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0046c0042t0001 | 0/0 | 18368 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| a0047c0014t0001 | 0/0 | 18368 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | copy fasta | chr1 | 185729391 | 186195949 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0001t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0015t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0027t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0001c0035t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0004t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0004t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0004t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0004t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0007t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0007t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0002c0007t0006g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0003t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0003t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0003t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0003t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0018t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0039t0007g0041 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0003c0043t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0004c0002t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0005c0005t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0005c0005t0003g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0005c0005t0003g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0006c0006t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0006c0006t0002g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0006c0006t0005g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0007c0010t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0007c0010t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0008c0009t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0008c0009t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0009c0050t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0009c0052t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0010c0051t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0010c0053t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0011c0008t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0011c0008t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0012c0016t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0012c0017t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0013c0011t0004g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0013c0011t0004g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0014c0013t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0015c0012t0008g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0016c0047t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0017c0054t0003g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0018c0046t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0019c0056t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0020c0055t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0021c0057t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0022c0049t0001g0037 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0023c0048t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0024c0044t0003g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0025c0045t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0026c0040t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0027c0019t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0028c0020t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0029c0022t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0030c0021t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0031c0023t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0032c0024t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0033c0029t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0034c0031t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0035c0030t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0036c0032t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0037c0038t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0038c0036t0005g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0039c0033t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0040c0034t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0041c0028t0006g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0042c0037t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0043c0025t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0044c0041t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0045c0026t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0046c0042t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| a0047c0014t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00323 | hp1 | a0015 | c0012 | t0008 | g0001 | EUR | FIN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG00323 | hp2 | a0042 | c0037 | t0001 | g0034 | EUR | FIN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG00639 | hp2 | a0038 | c0036 | t0005 | g0033 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG00735 | hp1 | a0031 | c0023 | t0001 | g0074 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG00735 | hp2 | a0003 | c0003 | t0001 | g0054 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01069 | hp1 | a0008 | c0009 | t0001 | g0084 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0032 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01074 | hp1 | a0012 | c0017 | t0001 | g0062 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0042 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01099 | hp2 | a0004 | c0002 | t0001 | g0016 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01192 | hp1 | a0001 | c0015 | t0001 | g0045 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01192 | hp2 | a0024 | c0044 | t0003 | g0071 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01243 | hp1 | a0005 | c0005 | t0003 | g0012 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01243 | hp2 | a0001 | c0035 | t0001 | g0020 | AMR | PUR | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01261 | hp1 | a0003 | c0003 | t0001 | g0051 | AMR | CLM | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01261 | hp2 | a0006 | c0006 | t0001 | g0049 | AMR | CLM | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01516 | hp1 | a0032 | c0024 | t0001 | g0040 | EUR | IBS | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01516 | hp2 | a0006 | c0006 | t0005 | g0080 | EUR | IBS | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01891 | hp1 | a0016 | c0047 | t0001 | g0081 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0090 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01978 | hp1 | a0037 | c0038 | t0001 | g0038 | AMR | PEL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG01978 | hp2 | a0044 | c0041 | t0001 | g0060 | AMR | PEL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02040 | hp1 | a0003 | c0043 | t0001 | g0066 | EAS | KHV | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02055 | hp1 | a0005 | c0005 | t0003 | g0061 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02055 | hp2 | a0047 | c0014 | t0001 | g0055 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02258 | hp1 | a0013 | c0011 | t0004 | g0057 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02258 | hp2 | a0034 | c0031 | t0001 | g0006 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02280 | hp2 | a0004 | c0002 | t0001 | g0015 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02451 | hp1 | a0045 | c0026 | t0001 | g0022 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02451 | hp2 | a0020 | c0055 | t0001 | g0013 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02572 | hp1 | a0019 | c0056 | t0001 | g0018 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02572 | hp2 | a0039 | c0033 | t0001 | g0076 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02615 | hp1 | a0007 | c0010 | t0002 | g0003 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0004 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02622 | hp1 | a0009 | c0050 | t0002 | g0048 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02622 | hp2 | a0010 | c0053 | t0001 | g0079 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02698 | hp1 | a0003 | c0018 | t0002 | g0046 | SAS | PJL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02698 | hp2 | a0036 | c0032 | t0001 | g0064 | SAS | PJL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02723 | hp1 | a0029 | c0022 | t0001 | g0092 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02723 | hp2 | a0004 | c0002 | t0001 | g0036 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02809 | hp1 | a0035 | c0030 | t0001 | g0065 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02809 | hp2 | a0002 | c0007 | t0006 | g0028 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02886 | hp1 | a0004 | c0002 | t0001 | g0072 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02886 | hp2 | a0002 | c0007 | t0002 | g0029 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02922 | hp1 | a0002 | c0004 | t0001 | g0030 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02922 | hp2 | a0009 | c0052 | t0002 | g0077 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02976 | hp1 | a0004 | c0002 | t0001 | g0014 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0089 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03017 | hp1 | a0043 | c0025 | t0001 | g0007 | SAS | PJL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03017 | hp2 | a0003 | c0003 | t0001 | g0039 | SAS | PJL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03041 | hp1 | a0017 | c0054 | t0003 | g0027 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03041 | hp2 | a0041 | c0028 | t0006 | g0002 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03139 | hp1 | a0011 | c0008 | t0001 | g0069 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03139 | hp2 | a0018 | c0046 | t0001 | g0059 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03195 | hp1 | a0023 | c0048 | t0002 | g0026 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03195 | hp2 | a0011 | c0008 | t0001 | g0070 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03225 | hp1 | a0008 | c0009 | t0002 | g0085 | AFR | MSL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03225 | hp2 | a0010 | c0051 | t0001 | g0047 | AFR | MSL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | MSL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03486 | hp2 | a0013 | c0011 | t0004 | g0058 | AFR | MSL | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03516 | hp1 | a0004 | c0002 | t0001 | g0017 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03516 | hp2 | a0014 | c0013 | t0001 | g0056 | AFR | ESN | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03540 | hp2 | a0002 | c0004 | t0002 | g0024 | AFR | GWD | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03942 | hp1 | a0046 | c0042 | t0001 | g0043 | SAS | BEB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG03942 | hp2 | a0030 | c0021 | t0001 | g0067 | SAS | BEB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG04115 | hp1 | a0003 | c0003 | t0001 | g0063 | SAS | STU | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG04115 | hp2 | a0006 | c0006 | t0002 | g0053 | SAS | STU | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18522 | hp1 | a0002 | c0007 | t0002 | g0025 | AFR | YRI | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | YRI | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18960 | hp2 | a0040 | c0034 | t0001 | g0031 | EAS | JPT | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18986 | hp1 | a0001 | c0001 | t0002 | g0021 | EAS | JPT | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA18986 | hp2 | a0027 | c0019 | t0001 | g0008 | EAS | JPT | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA19030 | hp1 | a0002 | c0004 | t0001 | g0050 | AFR | LWK | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA19030 | hp2 | a0026 | c0040 | t0003 | g0086 | AFR | LWK | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA19240 | hp1 | a0002 | c0004 | t0002 | g0023 | AFR | YRI | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA19240 | hp2 | a0001 | c0027 | t0002 | g0088 | AFR | YRI | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA20129 | hp1 | a0012 | c0016 | t0001 | g0044 | AFR | ASW | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA20129 | hp2 | a0025 | c0045 | t0001 | g0073 | AFR | ASW | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02109 | hp1 | a0007 | c0010 | t0001 | g0005 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02486 | hp1 | a0033 | c0029 | t0001 | g0009 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| HG02486 | hp2 | a0005 | c0005 | t0003 | g0011 | AFR | ACB | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA21309 | hp1 | a0021 | c0057 | t0001 | g0019 | AFR | LWK | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| NA21309 | hp2 | a0028 | c0020 | t0002 | g0068 | AFR | LWK | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| homoSapiens_chm13v2 | hp1 | a0022 | c0049 | t0001 | g0037 | REF | REF | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| homoSapiens_grch38 | hp1 | a0003 | c0039 | t0007 | g0041 | REF | REF | HMCN1_chr1_185729391_186195949 | HMCN1 | chr1 | 185729391 | 186195949 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:185909500
|
A | G | 1 | a0013 | 2 | HG02258.hp1 HG03486.hp2 |
missense_variant | MODERATE | c.785A>G | p.Asn262Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/107 | 1174/18368 | 785/16908 | 262/5635 | chr1 | 185909500 | ||
| chr1:185911745
|
G | A | 1 | a0014 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.865G>A | p.Val289Met | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/107 | 1254/18368 | 865/16908 | 289/5635 | chr1 | 185911745 | ||
| chr1:185925163
|
G | A | 1 | a0015 | 1 | HG00323.hp1 | missense_variant | MODERATE | c.1402G>A | p.Val468Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/107 | 1791/18368 | 1402/16908 | 468/5635 | chr1 | 185925163 | ||
| chr1:185987474
|
T | C | 1 | a0047 | 1 | HG02055.hp2 | missense_variant | MODERATE | c.2978T>C | p.Ile993Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/107 | 3367/18368 | 2978/16908 | 993/5635 | chr1 | 185987474 | ||
| chr1:185987516
|
A | T | 2 | a0005a0013 | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
missense_variant | MODERATE | c.3020A>T | p.Asn1007Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/107 | 3409/18368 | 3020/16908 | 1007/5635 | chr1 | 185987516 | ||
| chr1:185989605
|
A | G | 19 | a0002a0004a0005others(16): Show | 37 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(34): Show |
missense_variant | MODERATE | c.3166A>G | p.Thr1056Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/107 | 3555/18368 | 3166/16908 | 1056/5635 | chr1 | 185989605 | ||
| chr1:185994859
|
G | T | 3 | a0011a0024a0025 | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
missense_variant | MODERATE | c.3550G>T | p.Val1184Phe | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/107 | 3939/18368 | 3550/16908 | 1184/5635 | chr1 | 185994859 | ||
| chr1:186003808
|
C | T | 1 | a0005 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
missense_variant | MODERATE | c.4439C>T | p.Thr1480Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/107 | 4828/18368 | 4439/16908 | 1480/5635 | chr1 | 186003808 | ||
| chr1:186038865
|
G | T | 1 | a0046 | 1 | HG03942.hp1 | missense_variant | MODERATE | c.5888G>T | p.Gly1963Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 38/107 | 6277/18368 | 5888/16908 | 1963/5635 | chr1 | 186038865 | ||
| chr1:186041119
|
T | A | 1 | a0045 | 1 | HG02451.hp1 | missense_variant | MODERATE | c.6287T>A | p.Ile2096Asn | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/107 | 6676/18368 | 6287/16908 | 2096/5635 | chr1 | 186041119 | ||
| chr1:186055511
|
G | A | 2 | a0007a0016 | 3 | HG01891.hp1 HG02109.hp1 HG02615.hp1 |
missense_variant | MODERATE | c.6981G>A | p.Met2327Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/107 | 7370/18368 | 6981/16908 | 2327/5635 | chr1 | 186055511 | ||
| chr1:186055521
|
C | T | 1 | a0044 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.6991C>T | p.His2331Tyr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/107 | 7380/18368 | 6991/16908 | 2331/5635 | chr1 | 186055521 | ||
| chr1:186057342
|
T | C | 21 | a0001a0002a0006others(18): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
missense_variant | MODERATE | c.7253T>C | p.Ile2418Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/107 | 7642/18368 | 7253/16908 | 2418/5635 | chr1 | 186057342 | ||
| chr1:186057393
|
T | A | 1 | a0043 | 1 | HG03017.hp1 | missense_variant | MODERATE | c.7304T>A | p.Ile2435Asn | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/107 | 7693/18368 | 7304/16908 | 2435/5635 | chr1 | 186057393 | ||
| chr1:186062598
|
C | A | 1 | a0026 | 1 | NA19030.hp2 | missense_variant&splice_region_variant | MODERATE | c.7511C>A | p.Thr2504Lys | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/107 | 7900/18368 | 7511/16908 | 2504/5635 | chr1 | 186062598 | ||
| chr1:186074775
|
C | T | 1 | a0015 | 1 | HG00323.hp1 | missense_variant | MODERATE | c.8174C>T | p.Ala2725Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/107 | 8563/18368 | 8174/16908 | 2725/5635 | chr1 | 186074775 | ||
| chr1:186078130
|
C | T | 2 | a0010a0021 | 3 | HG02622.hp2 HG03225.hp2 NA21309.hp1 |
missense_variant | MODERATE | c.8509C>T | p.Arg2837Trp | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/107 | 8898/18368 | 8509/16908 | 2837/5635 | chr1 | 186078130 | ||
| chr1:186081285
|
A | G | 24 | a0001a0002a0004others(21): Show | 57 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(54): Show |
missense_variant | MODERATE | c.8678A>G | p.Glu2893Gly | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/107 | 9067/18368 | 8678/16908 | 2893/5635 | chr1 | 186081285 | ||
| chr1:186082866
|
T | C | 1 | a0011 | 2 | HG03139.hp1 HG03195.hp2 |
missense_variant&splice_region_variant | MODERATE | c.8789T>C | p.Ile2930Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/107 | 9178/18368 | 8789/16908 | 2930/5635 | chr1 | 186082866 | ||
| chr1:186082892
|
G | A | 1 | a0012 | 2 | HG01074.hp1 NA20129.hp1 |
missense_variant | MODERATE | c.8815G>A | p.Gly2939Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/107 | 9204/18368 | 8815/16908 | 2939/5635 | chr1 | 186082892 | ||
| chr1:186087965
|
A | G | 1 | a0011 | 2 | HG03139.hp1 HG03195.hp2 |
missense_variant | MODERATE | c.9397A>G | p.Ile3133Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 61/107 | 9786/18368 | 9397/16908 | 3133/5635 | chr1 | 186087965 | ||
| chr1:186088714
|
T | C | 1 | a0014 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.9686T>C | p.Met3229Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/107 | 10075/18368 | 9686/16908 | 3229/5635 | chr1 | 186088714 | ||
| chr1:186088749
|
A | G | 1 | a0015 | 1 | HG00323.hp1 | missense_variant | MODERATE | c.9721A>G | p.Ile3241Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/107 | 10110/18368 | 9721/16908 | 3241/5635 | chr1 | 186088749 | ||
| chr1:186090838
|
G | C | 1 | a0020 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.9808G>C | p.Ala3270Pro | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/107 | 10197/18368 | 9808/16908 | 3270/5635 | chr1 | 186090838 | ||
| chr1:186095351
|
C | G | 1 | a0031 | 1 | HG00735.hp1 | missense_variant | MODERATE | c.10403C>G | p.Ala3468Gly | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/107 | 10792/18368 | 10403/16908 | 3468/5635 | chr1 | 186095351 | ||
| chr1:186095422
|
C | A | 1 | a0008 | 2 | HG01069.hp1 HG03225.hp1 |
missense_variant | MODERATE | c.10474C>A | p.Gln3492Lys | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/107 | 10863/18368 | 10474/16908 | 3492/5635 | chr1 | 186095422 | ||
| chr1:186114053
|
G | A | 1 | a0019 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.11206G>A | p.Ala3736Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/107 | 11595/18368 | 11206/16908 | 3736/5635 | chr1 | 186114053 | ||
| chr1:186114842
|
T | G | 1 | a0036 | 1 | HG02698.hp2 | missense_variant | MODERATE | c.11300T>G | p.Phe3767Cys | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 74/107 | 11689/18368 | 11300/16908 | 3767/5635 | chr1 | 186114842 | ||
| chr1:186115371
|
A | G | 1 | a0025 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.11518A>G | p.Asn3840Asp | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/107 | 11907/18368 | 11518/16908 | 3840/5635 | chr1 | 186115371 | ||
| chr1:186119280
|
G | A | 1 | a0026 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.11938G>A | p.Val3980Met | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 78/107 | 12327/18368 | 11938/16908 | 3980/5635 | chr1 | 186119280 | ||
| chr1:186119868
|
A | G | 1 | a0042 | 1 | HG00323.hp2 | missense_variant | MODERATE | c.12080A>G | p.Asn4027Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 79/107 | 12469/18368 | 12080/16908 | 4027/5635 | chr1 | 186119868 | ||
| chr1:186120065
|
G | A | 1 | a0037 | 1 | HG01978.hp1 | missense_variant | MODERATE | c.12149G>A | p.Arg4050Gln | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/107 | 12538/18368 | 12149/16908 | 4050/5635 | chr1 | 186120065 | ||
| chr1:186122971
|
C | T | 1 | a0016 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.12250C>T | p.His4084Tyr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/107 | 12639/18368 | 12250/16908 | 4084/5635 | chr1 | 186122971 | ||
| chr1:186125675
|
G | A | 1 | a0026 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.12571G>A | p.Val4191Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/107 | 12960/18368 | 12571/16908 | 4191/5635 | chr1 | 186125675 | ||
| chr1:186128133
|
C | T | 1 | a0038 | 1 | HG00639.hp2 | missense_variant | MODERATE | c.12746C>T | p.Thr4249Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/107 | 13135/18368 | 12746/16908 | 4249/5635 | chr1 | 186128133 | ||
| chr1:186130002
|
T | C | 1 | a0010 | 2 | HG02622.hp2 HG03225.hp2 |
missense_variant | MODERATE | c.12941T>C | p.Val4314Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 84/107 | 13330/18368 | 12941/16908 | 4314/5635 | chr1 | 186130002 | ||
| chr1:186130522
|
A | G | 1 | a0041 | 1 | HG03041.hp2 | missense_variant | MODERATE | c.13055A>G | p.Lys4352Arg | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/107 | 13444/18368 | 13055/16908 | 4352/5635 | chr1 | 186130522 | ||
| chr1:186132338
|
C | T | 1 | a0025 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.13241C>T | p.Ala4414Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/107 | 13630/18368 | 13241/16908 | 4414/5635 | chr1 | 186132338 | ||
| chr1:186132407
|
A | G | 27 | a0001a0002a0007others(24): Show | 54 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(51): Show |
missense_variant | MODERATE | c.13310A>G | p.Gln4437Arg | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/107 | 13699/18368 | 13310/16908 | 4437/5635 | chr1 | 186132407 | ||
| chr1:186144198
|
G | C | 2 | a0017a0024 | 2 | HG01192.hp2 HG03041.hp1 |
missense_variant | MODERATE | c.13950G>C | p.Gln4650His | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 90/107 | 14339/18368 | 13950/16908 | 4650/5635 | chr1 | 186144198 | ||
| chr1:186144595
|
G | A | 8 | a0004a0005a0016others(5): Show | 15 | HG01099.hp2 HG01243.hp1 HG01891.hp1 others(12): Show |
missense_variant | MODERATE | c.14158G>A | p.Ala4720Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/107 | 14547/18368 | 14158/16908 | 4720/5635 | chr1 | 186144595 | ||
| chr1:186151329
|
C | A | 1 | a0039 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.14738C>A | p.Thr4913Asn | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 94/107 | 15127/18368 | 14738/16908 | 4913/5635 | chr1 | 186151329 | ||
| chr1:186165114
|
A | T | 16 | a0004a0005a0008others(13): Show | 26 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(23): Show |
missense_variant | MODERATE | c.15260A>T | p.Asp5087Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/107 | 15649/18368 | 15260/16908 | 5087/5635 | chr1 | 186165114 | ||
| chr1:186171376
|
G | A | 1 | a0040 | 1 | NA18960.hp2 | missense_variant | MODERATE | c.15614G>A | p.Arg5205His | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 101/107 | 16003/18368 | 15614/16908 | 5205/5635 | chr1 | 186171376 | ||
| chr1:186172049
|
C | G | 1 | a0027 | 1 | NA18986.hp2 | missense_variant | MODERATE | c.15732C>G | p.His5244Gln | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/107 | 16121/18368 | 15732/16908 | 5244/5635 | chr1 | 186172049 | ||
| chr1:186182191
|
G | A | 1 | a0021 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.16318G>A | p.Asp5440Asn | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/107 | 16707/18368 | 16318/16908 | 5440/5635 | chr1 | 186182191 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:185864499
|
T | C | 1 | a0015c0012 | 1 | HG00323.hp1 | synonymous_variant | LOW | c.369T>C | p.Ile123Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/107 | 758/18368 | 369/16908 | 123/5635 | chr1 | 185864499 | ||
| chr1:185982338
|
G | C | 2 | a0005c0005a0013c0011 | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
synonymous_variant | LOW | c.2739G>C | p.Leu913Leu | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/107 | 3128/18368 | 2739/16908 | 913/5635 | chr1 | 185982338 | ||
| chr1:185994993
|
C | T | 1 | a0003c0043 | 1 | HG02040.hp1 | synonymous_variant | LOW | c.3684C>T | p.Ile1228Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/107 | 4073/18368 | 3684/16908 | 1228/5635 | chr1 | 185994993 | ||
| chr1:185997511
|
A | G | 5 | a0004c0002a0017c0054a0019c0056others(2): Show | 10 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(7): Show |
synonymous_variant | LOW | c.3861A>G | p.Pro1287Pro | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/107 | 4250/18368 | 3861/16908 | 1287/5635 | chr1 | 185997511 | ||
| chr1:186001662
|
A | G | 3 | a0007c0010a0009c0052a0010c0053 | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
synonymous_variant | LOW | c.4269A>G | p.Pro1423Pro | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/107 | 4658/18368 | 4269/16908 | 1423/5635 | chr1 | 186001662 | ||
| chr1:186015310
|
A | G | 1 | a0013c0011 | 2 | HG02258.hp1 HG03486.hp2 |
synonymous_variant | LOW | c.4782A>G | p.Ala1594Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 31/107 | 5171/18368 | 4782/16908 | 1594/5635 | chr1 | 186015310 | ||
| chr1:186015385
|
T | C | 12 | a0001c0015a0003c0003a0003c0018others(9): Show | 15 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(12): Show |
synonymous_variant | LOW | c.4857T>C | p.His1619His | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 31/107 | 5246/18368 | 4857/16908 | 1619/5635 | chr1 | 186015385 | ||
| chr1:186016046
|
T | C | 1 | a0007c0010 | 2 | HG02109.hp1 HG02615.hp1 |
synonymous_variant | LOW | c.4998T>C | p.Ala1666Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 32/107 | 5387/18368 | 4998/16908 | 1666/5635 | chr1 | 186016046 | ||
| chr1:186023059
|
T | C | 1 | a0043c0025 | 1 | HG03017.hp1 | synonymous_variant | LOW | c.5655T>C | p.Ile1885Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/107 | 6044/18368 | 5655/16908 | 1885/5635 | chr1 | 186023059 | ||
| chr1:186039762
|
G | A | 1 | a0018c0046 | 1 | HG03139.hp2 | synonymous_variant | LOW | c.6063G>A | p.Val2021Val | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/107 | 6452/18368 | 6063/16908 | 2021/5635 | chr1 | 186039762 | ||
| chr1:186039849
|
T | C | 1 | a0015c0012 | 1 | HG00323.hp1 | synonymous_variant | LOW | c.6150T>C | p.Ser2050Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/107 | 6539/18368 | 6150/16908 | 2050/5635 | chr1 | 186039849 | ||
| chr1:186061909
|
C | T | 43 | a0001c0001a0001c0015a0001c0027others(40): Show | 73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
synonymous_variant | LOW | c.7371C>T | p.Cys2457Cys | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 47/107 | 7760/18368 | 7371/16908 | 2457/5635 | chr1 | 186061909 | ||
| chr1:186067946
|
C | T | 1 | a0037c0038 | 1 | HG01978.hp1 | synonymous_variant | LOW | c.7818C>T | p.Thr2606Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/107 | 8207/18368 | 7818/16908 | 2606/5635 | chr1 | 186067946 | ||
| chr1:186070721
|
T | C | 2 | a0014c0013a0046c0042 | 2 | HG03516.hp2 HG03942.hp1 |
synonymous_variant | LOW | c.8103T>C | p.Ile2701Ile | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/107 | 8492/18368 | 8103/16908 | 2701/5635 | chr1 | 186070721 | ||
| chr1:186074767
|
T | C | 4 | a0001c0027a0002c0007a0023c0048others(1): Show | 6 | HG02809.hp2 HG02886.hp2 HG03041.hp2 others(3): Show |
synonymous_variant | LOW | c.8166T>C | p.Asn2722Asn | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/107 | 8555/18368 | 8166/16908 | 2722/5635 | chr1 | 186074767 | ||
| chr1:186088215
|
A | T | 4 | a0001c0027a0002c0007a0023c0048others(1): Show | 6 | HG02809.hp2 HG02886.hp2 HG03041.hp2 others(3): Show |
synonymous_variant | LOW | c.9516A>T | p.Thr3172Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 62/107 | 9905/18368 | 9516/16908 | 3172/5635 | chr1 | 186088215 | ||
| chr1:186093188
|
G | A | 1 | a0011c0008 | 2 | HG03139.hp1 HG03195.hp2 |
synonymous_variant | LOW | c.9942G>A | p.Thr3314Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 65/107 | 10331/18368 | 9942/16908 | 3314/5635 | chr1 | 186093188 | ||
| chr1:186095484
|
T | C | 1 | a0016c0047 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.10536T>C | p.Ala3512Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/107 | 10925/18368 | 10536/16908 | 3512/5635 | chr1 | 186095484 | ||
| chr1:186117538
|
G | A | 1 | a0015c0012 | 1 | HG00323.hp1 | synonymous_variant | LOW | c.11763G>A | p.Ser3921Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/107 | 12152/18368 | 11763/16908 | 3921/5635 | chr1 | 186117538 | ||
| chr1:186125734
|
T | C | 1 | a0008c0009 | 2 | HG01069.hp1 HG03225.hp1 |
synonymous_variant | LOW | c.12630T>C | p.Ala4210Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/107 | 13019/18368 | 12630/16908 | 4210/5635 | chr1 | 186125734 | ||
| chr1:186128158
|
T | C | 1 | a0012c0016 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.12771T>C | p.His4257His | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/107 | 13160/18368 | 12771/16908 | 4257/5635 | chr1 | 186128158 | ||
| chr1:186130048
|
C | T | 1 | a0016c0047 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.12987C>T | p.Thr4329Thr | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 84/107 | 13376/18368 | 12987/16908 | 4329/5635 | chr1 | 186130048 | ||
| chr1:186137881
|
G | A | 1 | a0003c0018 | 1 | HG02698.hp1 | synonymous_variant | LOW | c.13833G>A | p.Arg4611Arg | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/107 | 14222/18368 | 13833/16908 | 4611/5635 | chr1 | 186137881 | ||
| chr1:186144216
|
C | T | 1 | a0001c0035 | 1 | HG01243.hp2 | synonymous_variant | LOW | c.13968C>T | p.Ser4656Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 90/107 | 14357/18368 | 13968/16908 | 4656/5635 | chr1 | 186144216 | ||
| chr1:186144276
|
G | A | 1 | a0026c0040 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.14028G>A | p.Ala4676Ala | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 90/107 | 14417/18368 | 14028/16908 | 4676/5635 | chr1 | 186144276 | ||
| chr1:186166257
|
C | T | 1 | a0015c0012 | 1 | HG00323.hp1 | synonymous_variant | LOW | c.15393C>T | p.Ser5131Ser | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 99/107 | 15782/18368 | 15393/16908 | 5131/5635 | chr1 | 186166257 | ||
| chr1:186166899
|
T | C | 1 | a0025c0045 | 1 | NA20129.hp2 | synonymous_variant | LOW | c.15531T>C | p.Cys5177Cys | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/107 | 15920/18368 | 15531/16908 | 5177/5635 | chr1 | 186166899 | ||
| chr1:186174521
|
T | C | 1 | a0001c0027 | 1 | NA19240.hp2 | synonymous_variant | LOW | c.15822T>C | p.Asp5274Asp | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/107 | 16211/18368 | 15822/16908 | 5274/5635 | chr1 | 186174521 | ||
| chr1:186189593
|
C | G | 1 | a0016c0047 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.16623C>G | p.Leu5541Leu | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 17012/18368 | 16623/16908 | 5541/5635 | chr1 | 186189593 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:185734489
|
A | G | 1 | a0015c0012t0008 | 1 | HG00323.hp1 | 5_prime_UTR_variant | MODIFIER | c.-291A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/107 | 291 | chr1 | 185734489 | |||||
| chr1:185734643
|
C | A | 1 | a0013c0011t0004 | 2 | HG02258.hp1 HG03486.hp2 |
5_prime_UTR_variant | MODIFIER | c.-137C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/107 | 137 | chr1 | 185734643 | |||||
| chr1:186189994
|
T | TA | 4 | a0005c0005t0003a0017c0054t0003a0024c0044t0003others(1): Show | 6 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*117dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 118 | INFO_REALIGN_3_PRIME | chr1 | 186189994 | ||||
| chr1:186190552
|
C | T | 18 | a0001c0001t0002a0001c0027t0002a0002c0004t0002others(15): Show | 27 | HG01069.hp2 HG01074.hp2 HG01192.hp2 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*674C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 674 | chr1 | 186190552 | |||||
| chr1:186190649
|
TTTTG | T | 2 | a0002c0007t0006a0041c0028t0006 | 2 | HG02809.hp2 HG03041.hp2 |
3_prime_UTR_variant | MODIFIER | c.*775_*778delGTTT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 775 | INFO_REALIGN_3_PRIME | chr1 | 186190649 | ||||
| chr1:186190703
|
A | G | 63 | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(60): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
3_prime_UTR_variant | MODIFIER | c.*825A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 825 | chr1 | 186190703 | |||||
| chr1:186190815
|
A | G | 2 | a0006c0006t0005a0038c0036t0005 | 2 | HG00639.hp2 HG01516.hp2 |
3_prime_UTR_variant | MODIFIER | c.*937A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 107/107 | 937 | chr1 | 186190815 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:185735148
|
T | TA | 6 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(3): Show | 6 | HG00323.hp1 HG02109.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.268+108dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185735148 | |||||
| chr1:185735949
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+902A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185735949 | ||||||
| chr1:185736117
|
A | G | 1 | a0029c0022t0001g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.268+1070A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185736117 | ||||||
| chr1:185736203
|
C | G | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.268+1156C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185736203 | ||||||
| chr1:185736333
|
ATAT | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+1291_268+1293d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185736333 | |||||
| chr1:185736751
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+1704G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185736751 | ||||||
| chr1:185736977
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+1930C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185736977 | ||||||
| chr1:185737616
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+2569G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185737616 | ||||||
| chr1:185737815
|
A | C | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+2768A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185737815 | ||||||
| chr1:185738081
|
C | T | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+3034C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738081 | ||||||
| chr1:185738115
|
A | G | 1 | a0003c0003t0001g0054 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.268+3068A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738115 | ||||||
| chr1:185738432
|
T | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+3385T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738432 | ||||||
| chr1:185738432
|
T | C | 6 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(3): Show | 6 | HG00323.hp1 HG02109.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.268+3385T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738432 | ||||||
| chr1:185738627
|
A | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+3580A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738627 | ||||||
| chr1:185738677
|
C | T | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.268+3630C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185738677 | ||||||
| chr1:185739020
|
CT | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+3974delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185739020 | ||||||
| chr1:185739090
|
C | G | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+4043C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185739090 | ||||||
| chr1:185739271
|
A | G | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.268+4224A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185739271 | ||||||
| chr1:185739294
|
G | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+4247G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185739294 | ||||||
| chr1:185739460
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+4413C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185739460 | ||||||
| chr1:185740205
|
G | A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.268+5158G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740205 | ||||||
| chr1:185740342
|
G | A | 5 | a0001c0001t0001g0010a0001c0001t0001g0052a0027c0019t0001g0008others(2): Show | 5 | HG00639.hp1 HG02486.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+5295G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740342 | ||||||
| chr1:185740421
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+5374T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740421 | ||||||
| chr1:185740552
|
G | C | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+5505G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740552 | ||||||
| chr1:185740651
|
G | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+5604G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740651 | ||||||
| chr1:185740693
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+5646G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740693 | ||||||
| chr1:185740712
|
C | T | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+5665C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740712 | ||||||
| chr1:185740927
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+5880G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185740927 | ||||||
| chr1:185741005
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.268+5958C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741005 | ||||||
| chr1:185741083
|
G | C | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.268+6036G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741083 | ||||||
| chr1:185741085
|
G | A | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.268+6038G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741085 | ||||||
| chr1:185741147
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+6100C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741147 | ||||||
| chr1:185741199
|
C | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+6152C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741199 | ||||||
| chr1:185741199
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+6152C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741199 | ||||||
| chr1:185741729
|
G | C | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.268+6682G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741729 | ||||||
| chr1:185741794
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+6747G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185741794 | ||||||
| chr1:185742036
|
G | GT | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+6992dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185742036 | |||||
| chr1:185742046
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+6999C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742046 | ||||||
| chr1:185742101
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7054A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742101 | ||||||
| chr1:185742124
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7077T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742124 | ||||||
| chr1:185742163
|
C | T | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0014c0013t0001g0056 | 3 | HG02258.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+7116C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742163 | ||||||
| chr1:185742168
|
G | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7121G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742168 | ||||||
| chr1:185742257
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7210A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742257 | ||||||
| chr1:185742349
|
A | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+7302A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742349 | ||||||
| chr1:185742421
|
CT | C | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+7383delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185742421 | |||||
| chr1:185742695
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7648T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185742695 | ||||||
| chr1:185743011
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+7964C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743011 | ||||||
| chr1:185743055
|
A | G | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0014c0013t0001g0056 | 3 | HG02258.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+8008A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743055 | ||||||
| chr1:185743180
|
T | C | 3 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02109.hp1 HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.268+8133T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743180 | ||||||
| chr1:185743564
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.268+8517C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743564 | ||||||
| chr1:185743982
|
GT | G | 32 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0087others(29): Show | 32 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.268+8959delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185743982 | |||||
| chr1:185743985
|
T | TTG | 7 | a0004c0002t0001g0014a0004c0002t0001g0015a0005c0005t0003g0011others(4): Show | 7 | HG01243.hp1 HG02280.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+8939_268+8940i others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185743985 | |||||
| chr1:185743987
|
T | G | 6 | a0001c0001t0001g0052a0001c0001t0001g0082a0001c0001t0001g0083others(3): Show | 6 | HG01516.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.268+8940T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743987 | ||||||
| chr1:185743988
|
T | G | 32 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0087others(29): Show | 32 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.268+8941T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743988 | ||||||
| chr1:185743989
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+8942T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185743989 | ||||||
| chr1:185744075
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+9028G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744075 | ||||||
| chr1:185744081
|
C | T | 4 | a0001c0001t0001g0078a0001c0001t0001g0083a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+9034C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744081 | ||||||
| chr1:185744155
|
AT | A | 4 | a0001c0001t0002g0004a0001c0001t0002g0021a0007c0010t0001g0005others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+9121delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185744155 | |||||
| chr1:185744241
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+9194A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744241 | ||||||
| chr1:185744395
|
C | T | 1 | a0010c0053t0001g0079 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.268+9348C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744395 | ||||||
| chr1:185744550
|
C | G | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0014c0013t0001g0056 | 3 | HG02258.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+9503C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744550 | ||||||
| chr1:185744650
|
A | G | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.268+9603A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744650 | ||||||
| chr1:185744948
|
C | T | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+9901C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744948 | ||||||
| chr1:185744961
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+9914T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185744961 | ||||||
| chr1:185745045
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+9998C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745045 | ||||||
| chr1:185745100
|
G | A | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0014c0013t0001g0056 | 3 | HG02258.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+10053G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745100 | ||||||
| chr1:185745211
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.268+10164C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745211 | ||||||
| chr1:185745233
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+10186G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745233 | ||||||
| chr1:185745406
|
T | C | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.268+10359T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745406 | ||||||
| chr1:185745465
|
C | T | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+10418C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745465 | ||||||
| chr1:185745531
|
A | AC | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+10484_268+1048 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745531 | ||||||
| chr1:185745686
|
G | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+10639G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185745686 | ||||||
| chr1:185746105
|
G | A | 6 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(3): Show | 6 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+11058G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185746105 | ||||||
| chr1:185746214
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+11167A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185746214 | ||||||
| chr1:185746262
|
C | T | 3 | a0001c0001t0001g0075a0031c0023t0001g0074a0039c0033t0001g0076 | 3 | HG00735.hp1 HG01099.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.268+11215C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185746262 | ||||||
| chr1:185746345
|
T | C | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+11298T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185746345 | ||||||
| chr1:185746605
|
C | CT | 39 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(36): Show | 39 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.268+11575dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185746605 | |||||
| chr1:185746605
|
C | CTT | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.268+11574_268+1157 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185746605 | |||||
| chr1:185746921
|
C | T | 2 | a0034c0031t0001g0006a0041c0028t0006g0002 | 2 | HG02258.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.268+11874C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185746921 | ||||||
| chr1:185747063
|
AG | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+12018delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185747063 | |||||
| chr1:185747125
|
C | T | 7 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(4): Show | 7 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+12078C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747125 | ||||||
| chr1:185747388
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+12341G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747388 | ||||||
| chr1:185747540
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+12493G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747540 | ||||||
| chr1:185747633
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+12586G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747633 | ||||||
| chr1:185747678
|
C | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+12631C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747678 | ||||||
| chr1:185747719
|
A | G | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.268+12672A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747719 | ||||||
| chr1:185747832
|
A | C | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+12785A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747832 | ||||||
| chr1:185747907
|
G | C | 4 | a0001c0001t0001g0078a0009c0052t0002g0077a0010c0053t0001g0079others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+12860G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185747907 | ||||||
| chr1:185748034
|
A | AT | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+13013dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185748034 | |||||
| chr1:185748034
|
AT | A | 65 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(62): Show | 65 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.268+13013delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185748034 | |||||
| chr1:185748066
|
T | G | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+13019T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748066 | ||||||
| chr1:185748106
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+13059G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748106 | ||||||
| chr1:185748342
|
G | T | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+13295G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748342 | ||||||
| chr1:185748582
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+13535G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748582 | ||||||
| chr1:185748768
|
T | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+13721T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748768 | ||||||
| chr1:185748962
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+13915A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748962 | ||||||
| chr1:185748980
|
T | C | 2 | a0006c0006t0005g0080a0044c0041t0001g0060 | 2 | HG01516.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.268+13933T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185748980 | ||||||
| chr1:185749215
|
T | C | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.268+14168T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185749215 | ||||||
| chr1:185749332
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+14285A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185749332 | ||||||
| chr1:185749358
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+14311G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185749358 | ||||||
| chr1:185749459
|
A | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+14412A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185749459 | ||||||
| chr1:185749497
|
C | T | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.268+14450C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185749497 | ||||||
| chr1:185750216
|
G | C | 1 | a0004c0002t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.268+15169G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185750216 | ||||||
| chr1:185750809
|
CTGT | C | 2 | a0034c0031t0001g0006a0041c0028t0006g0002 | 2 | HG02258.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.268+15765_268+1576 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185750809 | |||||
| chr1:185750836
|
T | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+15789T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185750836 | ||||||
| chr1:185751101
|
T | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.268+16054T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751101 | ||||||
| chr1:185751155
|
C | A | 1 | a0006c0006t0005g0080 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.268+16108C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751155 | ||||||
| chr1:185751307
|
A | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16260A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751307 | ||||||
| chr1:185751308
|
C | A | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16261C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751308 | ||||||
| chr1:185751312
|
G | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16265G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751312 | ||||||
| chr1:185751314
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16267C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751314 | ||||||
| chr1:185751315
|
C | A | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16268C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751315 | ||||||
| chr1:185751316
|
A | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16269A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751316 | ||||||
| chr1:185751317
|
T | A | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+16270T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751317 | ||||||
| chr1:185751583
|
T | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+16536T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751583 | ||||||
| chr1:185751597
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+16550G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751597 | ||||||
| chr1:185751695
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+16648T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751695 | ||||||
| chr1:185751823
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+16776A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185751823 | ||||||
| chr1:185752089
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+17042T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752089 | ||||||
| chr1:185752108
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+17061T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752108 | ||||||
| chr1:185752174
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+17127T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752174 | ||||||
| chr1:185752315
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+17268A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752315 | ||||||
| chr1:185752318
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+17271G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752318 | ||||||
| chr1:185752362
|
C | T | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.268+17315C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752362 | ||||||
| chr1:185752467
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+17420G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752467 | ||||||
| chr1:185752470
|
C | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+17423C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752470 | ||||||
| chr1:185752497
|
A | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+17450A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185752497 | ||||||
| chr1:185753188
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+18141T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753188 | ||||||
| chr1:185753230
|
C | T | 3 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02109.hp1 HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.268+18183C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753230 | ||||||
| chr1:185753240
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+18193A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753240 | ||||||
| chr1:185753332
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+18285T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753332 | ||||||
| chr1:185753583
|
C | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+18536C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753583 | ||||||
| chr1:185753771
|
A | G | 2 | a0002c0007t0002g0029a0002c0007t0006g0028 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.268+18724A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753771 | ||||||
| chr1:185753940
|
G | A | 53 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(50): Show | 53 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(50): Show |
intron_variant | MODIFIER | c.268+18893G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185753940 | ||||||
| chr1:185754064
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.268+19017C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754064 | ||||||
| chr1:185754138
|
A | G | 6 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(3): Show | 6 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+19091A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754138 | ||||||
| chr1:185754220
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.268+19173C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754220 | ||||||
| chr1:185754331
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+19284C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754331 | ||||||
| chr1:185754449
|
A | G | 2 | a0001c0001t0001g0010a0033c0029t0001g0009 | 2 | HG00639.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.268+19402A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754449 | ||||||
| chr1:185754455
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+19408G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754455 | ||||||
| chr1:185754655
|
G | A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.268+19608G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754655 | ||||||
| chr1:185754715
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+19668G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754715 | ||||||
| chr1:185754720
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+19673T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754720 | ||||||
| chr1:185754880
|
G | A | 2 | a0034c0031t0001g0006a0041c0028t0006g0002 | 2 | HG02258.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.268+19833G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185754880 | ||||||
| chr1:185755019
|
A | G | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.268+19972A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755019 | ||||||
| chr1:185755300
|
C | T | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+20253C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755300 | ||||||
| chr1:185755484
|
C | T | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+20437C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755484 | ||||||
| chr1:185755588
|
G | C | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+20541G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755588 | ||||||
| chr1:185755711
|
G | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+20664G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755711 | ||||||
| chr1:185755764
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+20717G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755764 | ||||||
| chr1:185755865
|
G | A | 6 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(3): Show | 6 | HG00323.hp1 HG02109.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.268+20818G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755865 | ||||||
| chr1:185755902
|
A | G | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+20855A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185755902 | ||||||
| chr1:185756141
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+21094G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185756141 | ||||||
| chr1:185756321
|
T | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.268+21274T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185756321 | ||||||
| chr1:185756335
|
C | T | 2 | a0001c0001t0001g0082a0016c0047t0001g0081 | 2 | HG01891.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.268+21288C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185756335 | ||||||
| chr1:185756478
|
T | TA | 5 | a0003c0003t0001g0051a0006c0006t0001g0049a0013c0011t0004g0057others(2): Show | 5 | HG01261.hp1 HG01261.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+21445dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185756478 | |||||
| chr1:185756478
|
TA | T | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG01069.hp1 HG02109.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+21445delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185756478 | |||||
| chr1:185756838
|
A | AT | 7 | a0001c0001t0001g0010a0001c0001t0001g0052a0007c0010t0001g0005others(4): Show | 7 | HG00639.hp1 HG02109.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+21803dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185756838 | |||||
| chr1:185756972
|
A | ATATAT | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+21926_268+2192 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185756972 | |||||
| chr1:185757036
|
G | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+21989G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757036 | ||||||
| chr1:185757183
|
C | T | 8 | a0001c0001t0002g0004a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02109.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.268+22136C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757183 | ||||||
| chr1:185757594
|
C | T | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.268+22547C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757594 | ||||||
| chr1:185757642
|
A | G | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+22595A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757642 | ||||||
| chr1:185757670
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+22623C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757670 | ||||||
| chr1:185757745
|
A | G | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+22698A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757745 | ||||||
| chr1:185757771
|
A | G | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+22724A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757771 | ||||||
| chr1:185757938
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+22891G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185757938 | ||||||
| chr1:185758402
|
A | G | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+23355A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758402 | ||||||
| chr1:185758423
|
C | T | 3 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02109.hp1 HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.268+23376C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758423 | ||||||
| chr1:185758511
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+23464C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758511 | ||||||
| chr1:185758615
|
A | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(12): Show | 15 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.268+23568A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758615 | ||||||
| chr1:185758643
|
T | TAAAC | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+23602_268+2360 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185758643 | |||||
| chr1:185758723
|
T | C | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+23676T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758723 | ||||||
| chr1:185758731
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+23684T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758731 | ||||||
| chr1:185758966
|
C | T | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+23919C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185758966 | ||||||
| chr1:185759023
|
C | T | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+23976C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759023 | ||||||
| chr1:185759274
|
G | A | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.268+24227G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759274 | ||||||
| chr1:185759349
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+24302G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759349 | ||||||
| chr1:185759353
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+24306T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759353 | ||||||
| chr1:185759355
|
T | A | 9 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+24308T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759355 | ||||||
| chr1:185759514
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+24467C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759514 | ||||||
| chr1:185759565
|
T | C | 4 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+24518T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759565 | ||||||
| chr1:185759642
|
T | C | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+24595T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759642 | ||||||
| chr1:185759708
|
CT | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+24671delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185759708 | |||||
| chr1:185759718
|
T | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+24671T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759718 | ||||||
| chr1:185759913
|
A | G | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+24866A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185759913 | ||||||
| chr1:185760094
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.268+25047A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185760094 | ||||||
| chr1:185760220
|
A | G | 1 | a0013c0011t0004g0058 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.268+25173A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185760220 | ||||||
| chr1:185760435
|
G | A | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.268+25388G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185760435 | ||||||
| chr1:185760473
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+25426G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185760473 | ||||||
| chr1:185760906
|
G | C | 2 | a0003c0003t0001g0063a0012c0017t0001g0062 | 2 | HG01074.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.268+25859G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185760906 | ||||||
| chr1:185761034
|
A | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+25987A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185761034 | ||||||
| chr1:185761607
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+26560C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185761607 | ||||||
| chr1:185761825
|
TA | T | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+26781delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185761825 | |||||
| chr1:185761827
|
AAT | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+26781_268+2678 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185761827 | ||||||
| chr1:185761900
|
G | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+26853G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185761900 | ||||||
| chr1:185761991
|
G | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+26944G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185761991 | ||||||
| chr1:185762141
|
A | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.268+27094A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762141 | ||||||
| chr1:185762162
|
C | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+27115C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762162 | ||||||
| chr1:185762167
|
A | G | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+27120A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762167 | ||||||
| chr1:185762401
|
G | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+27354G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762401 | ||||||
| chr1:185762452
|
C | T | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+27405C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762452 | ||||||
| chr1:185762562
|
G | A | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.268+27515G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762562 | ||||||
| chr1:185762628
|
A | G | 1 | a0028c0020t0002g0068 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.268+27581A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762628 | ||||||
| chr1:185762891
|
A | G | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+27844A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185762891 | ||||||
| chr1:185763097
|
A | C | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+28050A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763097 | ||||||
| chr1:185763151
|
G | A | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.268+28104G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763151 | ||||||
| chr1:185763199
|
A | G | 11 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(8): Show | 11 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.268+28152A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763199 | ||||||
| chr1:185763235
|
A | C | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.268+28188A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763235 | ||||||
| chr1:185763359
|
C | A | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0014c0013t0001g0056 | 3 | HG02258.hp1 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+28312C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763359 | ||||||
| chr1:185763899
|
A | G | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+28852A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185763899 | ||||||
| chr1:185764318
|
G | A | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.268+29271G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185764318 | ||||||
| chr1:185764437
|
T | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+29390T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185764437 | ||||||
| chr1:185764777
|
A | T | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+29730A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185764777 | ||||||
| chr1:185764782
|
G | C | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+29735G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185764782 | ||||||
| chr1:185764813
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+29766G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185764813 | ||||||
| chr1:185765006
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+29959C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765006 | ||||||
| chr1:185765135
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.268+30088A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765135 | ||||||
| chr1:185765137
|
T | A | 5 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(2): Show | 5 | HG02109.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+30090T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765137 | ||||||
| chr1:185765139
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+30092G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765139 | ||||||
| chr1:185765355
|
A | C | 8 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(5): Show | 8 | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+30308A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765355 | ||||||
| chr1:185765419
|
G | A | 7 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+30372G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765419 | ||||||
| chr1:185765466
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.268+30419G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765466 | ||||||
| chr1:185765570
|
T | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+30523T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765570 | ||||||
| chr1:185765974
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.268+30927A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185765974 | ||||||
| chr1:185766107
|
C | T | 8 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(5): Show | 8 | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+31060C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185766107 | ||||||
| chr1:185766310
|
G | A | 8 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(5): Show | 8 | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+31263G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185766310 | ||||||
| chr1:185766371
|
T | C | 8 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(5): Show | 8 | HG00323.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+31324T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185766371 | ||||||
| chr1:185766781
|
G | A | 62 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(59): Show | 62 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(59): Show |
intron_variant | MODIFIER | c.268+31734G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185766781 | ||||||
| chr1:185766888
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+31841C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185766888 | ||||||
| chr1:185767011
|
TA | T | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+31976delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185767011 | |||||
| chr1:185767376
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+32329A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185767376 | ||||||
| chr1:185767673
|
T | A | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.268+32626T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185767673 | ||||||
| chr1:185767954
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+32907A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185767954 | ||||||
| chr1:185768185
|
C | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+33138C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185768185 | ||||||
| chr1:185768202
|
G | A | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.268+33155G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185768202 | ||||||
| chr1:185768508
|
C | T | 18 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(15): Show | 18 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.268+33461C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185768508 | ||||||
| chr1:185768775
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+33728A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185768775 | ||||||
| chr1:185769108
|
T | C | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0047c0014t0001g0055 | 3 | HG01069.hp1 HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.268+34061T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185769108 | ||||||
| chr1:185769217
|
G | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+34170G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185769217 | ||||||
| chr1:185769278
|
T | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+34231T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185769278 | ||||||
| chr1:185769647
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+34600A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185769647 | ||||||
| chr1:185769717
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+34670T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185769717 | ||||||
| chr1:185770127
|
G | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+35080G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770127 | ||||||
| chr1:185770286
|
A | G | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0047c0014t0001g0055 | 3 | HG01069.hp1 HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.268+35239A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770286 | ||||||
| chr1:185770405
|
A | G | 3 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02109.hp1 HG02615.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.268+35358A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770405 | ||||||
| chr1:185770727
|
C | T | 1 | a0011c0008t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.268+35680C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770727 | ||||||
| chr1:185770751
|
T | C | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0047c0014t0001g0055 | 3 | HG01069.hp1 HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.268+35704T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770751 | ||||||
| chr1:185770897
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+35850A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770897 | ||||||
| chr1:185770956
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+35909C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185770956 | ||||||
| chr1:185771097
|
G | A | 53 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(50): Show | 53 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(50): Show |
intron_variant | MODIFIER | c.268+36050G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771097 | ||||||
| chr1:185771188
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+36141C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771188 | ||||||
| chr1:185771524
|
C | T | 62 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(59): Show | 62 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(59): Show |
intron_variant | MODIFIER | c.268+36477C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771524 | ||||||
| chr1:185771705
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+36658G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771705 | ||||||
| chr1:185771873
|
C | T | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.268+36826C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771873 | ||||||
| chr1:185771980
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+36933G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185771980 | ||||||
| chr1:185772037
|
C | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+36990C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185772037 | ||||||
| chr1:185772038
|
G | A | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.268+36991G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185772038 | ||||||
| chr1:185772138
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+37091A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185772138 | ||||||
| chr1:185772559
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+37512T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185772559 | ||||||
| chr1:185772717
|
C | CTA | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+37673_268+3767 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185772717 | |||||
| chr1:185772892
|
G | A | 4 | a0001c0001t0002g0004a0007c0010t0001g0005a0007c0010t0002g0003others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+37845G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185772892 | ||||||
| chr1:185773366
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.268+38319T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185773366 | ||||||
| chr1:185773382
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+38335G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185773382 | ||||||
| chr1:185773574
|
G | C | 1 | a0003c0003t0001g0039 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.268+38527G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185773574 | ||||||
| chr1:185773835
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+38788C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185773835 | ||||||
| chr1:185774179
|
G | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+39132G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185774179 | ||||||
| chr1:185774719
|
A | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+39672A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185774719 | ||||||
| chr1:185774979
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+39932G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185774979 | ||||||
| chr1:185775011
|
A | G | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.268+39964A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185775011 | ||||||
| chr1:185775038
|
C | CA | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+39994dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185775038 | |||||
| chr1:185775421
|
G | GA | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG02258.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+40381dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185775421 | |||||
| chr1:185775857
|
C | G | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+40810C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185775857 | ||||||
| chr1:185775992
|
T | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01069.hp1 HG01891.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+40945T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185775992 | ||||||
| chr1:185776442
|
T | TTG | 6 | a0008c0009t0001g0084a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG00323.hp1 HG01069.hp1 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+41429_268+4143 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776442
|
T | TTGTGTGT others(1): Show |
5 | a0001c0001t0001g0091a0001c0001t0002g0089a0001c0001t0002g0090others(2): Show | 5 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+41423_268+4143 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776442
|
T | TTGTGTGT others(3): Show |
1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.268+41421_268+4143 others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776442
|
TTG | T | 37 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0002g0004others(34): Show | 37 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.268+41429_268+4143 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776442
|
TTGTG | T | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+41427_268+4143 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776442
|
TTGTGTG | T | 2 | a0014c0013t0001g0056a0047c0014t0001g0055 | 2 | HG02055.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+41425_268+4143 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776442 | |||||
| chr1:185776563
|
C | CT | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+41518dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185776563 | |||||
| chr1:185777170
|
G | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+42123G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777170 | ||||||
| chr1:185777186
|
G | A | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.268+42139G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777186 | ||||||
| chr1:185777200
|
G | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+42153G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777200 | ||||||
| chr1:185777329
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+42282A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777329 | ||||||
| chr1:185777430
|
C | T | 3 | a0001c0001t0001g0075a0031c0023t0001g0074a0039c0033t0001g0076 | 3 | HG00735.hp1 HG01099.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.268+42383C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777430 | ||||||
| chr1:185777477
|
G | A | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.268+42430G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777477 | ||||||
| chr1:185777566
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+42519C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777566 | ||||||
| chr1:185777598
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+42551T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777598 | ||||||
| chr1:185777697
|
G | A | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+42650G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777697 | ||||||
| chr1:185777777
|
G | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+42730G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777777 | ||||||
| chr1:185777869
|
T | C | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.268+42822T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185777869 | ||||||
| chr1:185778296
|
T | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+43249T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778296 | ||||||
| chr1:185778345
|
A | T | 2 | a0001c0035t0001g0020a0037c0038t0001g0038 | 2 | HG01243.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.268+43298A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778345 | ||||||
| chr1:185778375
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+43328C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778375 | ||||||
| chr1:185778461
|
A | AG | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+43414_268+4341 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778461 | ||||||
| chr1:185778463
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+43416A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778463 | ||||||
| chr1:185778468
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+43421A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778468 | ||||||
| chr1:185778497
|
G | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+43450G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778497 | ||||||
| chr1:185778780
|
A | G | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+43733A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778780 | ||||||
| chr1:185778801
|
C | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+43754C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778801 | ||||||
| chr1:185778808
|
G | A | 10 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(7): Show | 10 | HG01069.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.268+43761G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778808 | ||||||
| chr1:185778824
|
A | C | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+43777A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778824 | ||||||
| chr1:185778826
|
A | G | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+43779A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778826 | ||||||
| chr1:185778842
|
G | A | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.268+43795G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778842 | ||||||
| chr1:185778845
|
C | T | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+43798C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185778845 | ||||||
| chr1:185779226
|
T | A | 3 | a0004c0002t0001g0017a0005c0005t0003g0011a0005c0005t0003g0012 | 3 | HG01243.hp1 HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.268+44179T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779226 | ||||||
| chr1:185779326
|
G | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.268+44279G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779326 | ||||||
| chr1:185779502
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+44455C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779502 | ||||||
| chr1:185779561
|
A | G | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.268+44514A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779561 | ||||||
| chr1:185779597
|
A | G | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.268+44550A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779597 | ||||||
| chr1:185779688
|
T | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+44641T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185779688 | ||||||
| chr1:185780195
|
T | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+45148T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780195 | ||||||
| chr1:185780254
|
T | C | 2 | a0035c0030t0001g0065a0047c0014t0001g0055 | 2 | HG02055.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.268+45207T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780254 | ||||||
| chr1:185780304
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+45257T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780304 | ||||||
| chr1:185780428
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+45381T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780428 | ||||||
| chr1:185780437
|
G | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+45390G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780437 | ||||||
| chr1:185780472
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+45425T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780472 | ||||||
| chr1:185780521
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+45474C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780521 | ||||||
| chr1:185780576
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+45529G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780576 | ||||||
| chr1:185780630
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+45583G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780630 | ||||||
| chr1:185780648
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+45601G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780648 | ||||||
| chr1:185780661
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+45614T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780661 | ||||||
| chr1:185780706
|
T | G | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+45659T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780706 | ||||||
| chr1:185780721
|
T | A | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.268+45674T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780721 | ||||||
| chr1:185780737
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+45690G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780737 | ||||||
| chr1:185780895
|
A | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+45848A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780895 | ||||||
| chr1:185780943
|
C | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+45896C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185780943 | ||||||
| chr1:185781222
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+46175A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781222 | ||||||
| chr1:185781273
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+46226G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781273 | ||||||
| chr1:185781305
|
A | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+46258A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781305 | ||||||
| chr1:185781310
|
G | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+46263G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781310 | ||||||
| chr1:185781322
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+46275G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781322 | ||||||
| chr1:185781336
|
G | A | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.268+46289G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781336 | ||||||
| chr1:185781489
|
G | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+46442G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781489 | ||||||
| chr1:185781661
|
A | G | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.268+46614A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185781661 | ||||||
| chr1:185782030
|
A | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+46983A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782030 | ||||||
| chr1:185782170
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+47123T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782170 | ||||||
| chr1:185782193
|
T | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+47146T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782193 | ||||||
| chr1:185782428
|
A | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+47381A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782428 | ||||||
| chr1:185782486
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+47439A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782486 | ||||||
| chr1:185782530
|
A | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+47483A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782530 | ||||||
| chr1:185782714
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+47667C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782714 | ||||||
| chr1:185782846
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+47799G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782846 | ||||||
| chr1:185782879
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+47832T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782879 | ||||||
| chr1:185782890
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+47843T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782890 | ||||||
| chr1:185782895
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+47848T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782895 | ||||||
| chr1:185782903
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+47856G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782903 | ||||||
| chr1:185782989
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+47942G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185782989 | ||||||
| chr1:185783040
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+47993C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783040 | ||||||
| chr1:185783161
|
G | A | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.268+48114G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783161 | ||||||
| chr1:185783279
|
C | T | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+48232C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783279 | ||||||
| chr1:185783452
|
CT | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+48406delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783452 | ||||||
| chr1:185783571
|
C | A | 1 | a0001c0001t0001g0091 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.268+48524C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783571 | ||||||
| chr1:185783577
|
A | G | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.268+48530A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783577 | ||||||
| chr1:185783617
|
C | T | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.268+48570C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783617 | ||||||
| chr1:185783727
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+48680C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783727 | ||||||
| chr1:185783737
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+48690A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783737 | ||||||
| chr1:185783835
|
A | T | 2 | a0004c0002t0001g0036a0022c0049t0001g0037 | 2 | HG02723.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.268+48788A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783835 | ||||||
| chr1:185783928
|
A | G | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.268+48881A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783928 | ||||||
| chr1:185783981
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+48934C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185783981 | ||||||
| chr1:185784008
|
G | A | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.268+48961G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784008 | ||||||
| chr1:185784047
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+49000C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784047 | ||||||
| chr1:185784058
|
G | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+49011G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784058 | ||||||
| chr1:185784155
|
G | A | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+49108G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784155 | ||||||
| chr1:185784357
|
T | C | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.268+49310T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784357 | ||||||
| chr1:185784383
|
C | T | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.268+49336C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784383 | ||||||
| chr1:185784461
|
G | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+49414G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784461 | ||||||
| chr1:185784511
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+49464T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784511 | ||||||
| chr1:185784580
|
G | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.268+49533G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784580 | ||||||
| chr1:185784779
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+49732A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784779 | ||||||
| chr1:185784787
|
A | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.268+49740A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784787 | ||||||
| chr1:185784855
|
G | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+49808G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185784855 | ||||||
| chr1:185785062
|
CTTGT | C | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+50018_268+5002 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185785062 | |||||
| chr1:185785805
|
A | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+50758A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185785805 | ||||||
| chr1:185785822
|
G | A | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+50775G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185785822 | ||||||
| chr1:185786053
|
A | G | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.268+51006A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786053 | ||||||
| chr1:185786065
|
T | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+51018T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786065 | ||||||
| chr1:185786109
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+51062A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786109 | ||||||
| chr1:185786180
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.268+51133C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786180 | ||||||
| chr1:185786477
|
C | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+51430C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786477 | ||||||
| chr1:185786487
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+51440T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786487 | ||||||
| chr1:185786497
|
G | A | 5 | a0001c0001t0001g0010a0027c0019t0001g0008a0033c0029t0001g0009others(2): Show | 5 | HG00639.hp1 HG02486.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.268+51450G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786497 | ||||||
| chr1:185786500
|
G | T | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.268+51453G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786500 | ||||||
| chr1:185786519
|
A | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+51472A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786519 | ||||||
| chr1:185786622
|
G | A | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+51575G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786622 | ||||||
| chr1:185786720
|
C | T | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.268+51673C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786720 | ||||||
| chr1:185786908
|
G | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+51861G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185786908 | ||||||
| chr1:185787141
|
A | ATG | 22 | a0001c0001t0001g0075a0001c0001t0001g0091a0001c0015t0001g0045others(19): Show | 22 | HG01074.hp1 HG01099.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.268+52131_268+5213 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787141
|
A | ATGTG | 4 | a0001c0001t0001g0082a0006c0006t0002g0053a0025c0045t0001g0073others(1): Show | 4 | HG03540.hp1 HG04115.hp2 NA18960.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+52129_268+5213 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787141
|
A | ATGTGTGT others(5): Show |
1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+52121_268+5213 others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787141
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.268+52094A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787141 | ||||||
| chr1:185787141
|
ATG | A | 3 | a0004c0002t0001g0036a0010c0051t0001g0047a0015c0012t0008g0001 | 3 | HG00323.hp1 HG02723.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.268+52131_268+5213 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787141
|
ATGTG | A | 10 | a0001c0001t0001g0083a0001c0001t0002g0004a0005c0005t0003g0061others(7): Show | 10 | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.268+52129_268+5213 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787141
|
ATGTGTG | A | 2 | a0014c0013t0001g0056a0018c0046t0001g0059 | 2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.268+52127_268+5213 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787141 | |||||
| chr1:185787166
|
T | A | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+52119T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787166 | ||||||
| chr1:185787186
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+52139C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787186 | ||||||
| chr1:185787205
|
T | C | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.268+52158T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787205 | ||||||
| chr1:185787301
|
G | A | 1 | a0002c0007t0002g0025 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.268+52254G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787301 | ||||||
| chr1:185787441
|
T | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+52394T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787441 | ||||||
| chr1:185787652
|
GAGTT | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+52607_268+5261 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185787652 | |||||
| chr1:185787654
|
GTTAA | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(12): Show | 15 | HG00323.hp1 HG01891.hp2 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.268+52608_268+5261 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787654 | ||||||
| chr1:185787677
|
T | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+52630T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787677 | ||||||
| chr1:185787689
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+52642G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787689 | ||||||
| chr1:185787747
|
T | A | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.268+52700T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787747 | ||||||
| chr1:185787749
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+52702C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787749 | ||||||
| chr1:185787871
|
T | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.268+52824T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185787871 | ||||||
| chr1:185788105
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.268+53058A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185788105 | ||||||
| chr1:185788152
|
TG | T | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.268+53107delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185788152 | |||||
| chr1:185788389
|
A | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+53342A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185788389 | ||||||
| chr1:185788468
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.268+53421G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185788468 | ||||||
| chr1:185788537
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.268+53490C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185788537 | ||||||
| chr1:185788641
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+53594A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185788641 | ||||||
| chr1:185788789
|
A | AT | 11 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(8): Show | 11 | HG00323.hp1 HG01069.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.268+53751dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185788789 | |||||
| chr1:185788789
|
A | ATT | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+53750_268+5375 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185788789 | |||||
| chr1:185789021
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.268+53974C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789021 | ||||||
| chr1:185789029
|
T | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.268+53982T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789029 | ||||||
| chr1:185789163
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.268+54116A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789163 | ||||||
| chr1:185789358
|
G | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.268+54311G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789358 | ||||||
| chr1:185789443
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54396A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789443 | ||||||
| chr1:185789450
|
T | C | 2 | a0030c0021t0001g0067a0047c0014t0001g0055 | 2 | HG02055.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.268+54403T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789450 | ||||||
| chr1:185789458
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54411A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789458 | ||||||
| chr1:185789486
|
C | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+54439C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789486 | ||||||
| chr1:185789498
|
A | G | 1 | a0039c0033t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.268+54451A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789498 | ||||||
| chr1:185789534
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54487G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789534 | ||||||
| chr1:185789560
|
G | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54513G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789560 | ||||||
| chr1:185789612
|
A | AATGACAT | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.268+54584_268+5459 others(11): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185789612 | |||||
| chr1:185789750
|
T | C | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.268+54703T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789750 | ||||||
| chr1:185789763
|
G | A | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+54716G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789763 | ||||||
| chr1:185789789
|
C | G | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.268+54742C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789789 | ||||||
| chr1:185789882
|
C | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54835C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789882 | ||||||
| chr1:185789918
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+54871A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185789918 | ||||||
| chr1:185790110
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+55063G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790110 | ||||||
| chr1:185790184
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.268+55137A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790184 | ||||||
| chr1:185790502
|
T | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.268+55455T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790502 | ||||||
| chr1:185790514
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.268+55467T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790514 | ||||||
| chr1:185790765
|
G | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-55261G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790765 | ||||||
| chr1:185790881
|
A | G | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-55145A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185790881 | ||||||
| chr1:185791032
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-54994T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791032 | ||||||
| chr1:185791300
|
G | GGA | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-54725_269-5472 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185791300 | |||||
| chr1:185791374
|
TG | T | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-54651delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791374 | ||||||
| chr1:185791410
|
T | C | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-54616T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791410 | ||||||
| chr1:185791496
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.269-54530G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791496 | ||||||
| chr1:185791584
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.269-54442C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791584 | ||||||
| chr1:185791686
|
C | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-54340C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791686 | ||||||
| chr1:185791725
|
T | TAAAC | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(10): Show | 13 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.269-54283_269-5428 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185791725 | |||||
| chr1:185791797
|
T | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-54229T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791797 | ||||||
| chr1:185791929
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-54097G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185791929 | ||||||
| chr1:185792019
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-54007A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792019 | ||||||
| chr1:185792067
|
G | A | 1 | a0004c0002t0001g0015 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.269-53959G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792067 | ||||||
| chr1:185792142
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53884A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792142 | ||||||
| chr1:185792159
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53867G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792159 | ||||||
| chr1:185792185
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-53841T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792185 | ||||||
| chr1:185792197
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-53829A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792197 | ||||||
| chr1:185792475
|
A | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53551A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792475 | ||||||
| chr1:185792483
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53543C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792483 | ||||||
| chr1:185792520
|
AT | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53504delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185792520 | |||||
| chr1:185792522
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53504T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792522 | ||||||
| chr1:185792557
|
A | T | 9 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(6): Show | 9 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.269-53469A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792557 | ||||||
| chr1:185792707
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53319C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792707 | ||||||
| chr1:185792879
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-53147G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185792879 | ||||||
| chr1:185793138
|
G | A | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-52888G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793138 | ||||||
| chr1:185793583
|
G | T | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-52443G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793583 | ||||||
| chr1:185793728
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-52298G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793728 | ||||||
| chr1:185793763
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-52263A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793763 | ||||||
| chr1:185793822
|
A | C | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.269-52204A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793822 | ||||||
| chr1:185793890
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-52136C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793890 | ||||||
| chr1:185793991
|
T | G | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.269-52035T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185793991 | ||||||
| chr1:185794241
|
G | A | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-51785G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794241 | ||||||
| chr1:185794343
|
T | TCATATAT others(19): Show |
1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-51683_269-5168 others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794343 | ||||||
| chr1:185794343
|
T | TTATA | 3 | a0005c0005t0003g0061a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02055.hp1 HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.269-51669_269-5166 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794343 | |||||
| chr1:185794343
|
T | TTATATAT others(1): Show |
6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-51673_269-5166 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794343 | |||||
| chr1:185794343
|
T | TTATATAT others(3): Show |
1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-51675_269-5166 others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794343 | |||||
| chr1:185794343
|
T | TTATATAT others(5): Show |
2 | a0008c0009t0002g0085a0041c0028t0006g0002 | 2 | HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.269-51677_269-5166 others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794343 | |||||
| chr1:185794343
|
T | TTATATAT others(9): Show |
3 | a0008c0009t0001g0084a0013c0011t0004g0057a0013c0011t0004g0058 | 3 | HG01069.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.269-51681_269-5166 others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794343 | |||||
| chr1:185794428
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-51598G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794428 | ||||||
| chr1:185794467
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-51559T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794467 | ||||||
| chr1:185794500
|
A | G | 16 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(13): Show | 16 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.269-51526A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794500 | ||||||
| chr1:185794501
|
G | A | 16 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(13): Show | 16 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.269-51525G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794501 | ||||||
| chr1:185794502
|
A | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.269-51524A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794502 | ||||||
| chr1:185794519
|
G | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-51507G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794519 | ||||||
| chr1:185794523
|
T | C | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.269-51503T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794523 | ||||||
| chr1:185794551
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-51475T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794551 | ||||||
| chr1:185794553
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-51473C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794553 | ||||||
| chr1:185794601
|
A | AT | 20 | a0001c0001t0001g0010a0001c0001t0001g0087a0001c0001t0001g0091others(17): Show | 20 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(17): Show |
intron_variant | MODIFIER | c.269-51403dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794601 | |||||
| chr1:185794601
|
AT | A | 20 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(17): Show | 20 | HG00735.hp1 HG01099.hp1 HG01516.hp2 others(17): Show |
intron_variant | MODIFIER | c.269-51403delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794601 | |||||
| chr1:185794601
|
ATT | A | 6 | a0004c0002t0001g0072a0011c0008t0001g0069a0011c0008t0001g0070others(3): Show | 6 | HG01192.hp2 HG02886.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-51404_269-5140 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794601 | |||||
| chr1:185794636
|
T | G | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.269-51390T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794636 | ||||||
| chr1:185794683
|
T | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-51343T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794683 | ||||||
| chr1:185794761
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-51265A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185794761 | ||||||
| chr1:185794824
|
T | TA | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.269-51195dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185794824 | |||||
| chr1:185795167
|
G | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-50859G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795167 | ||||||
| chr1:185795497
|
T | C | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.269-50529T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795497 | ||||||
| chr1:185795595
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-50431G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795595 | ||||||
| chr1:185795687
|
G | A | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.269-50339G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795687 | ||||||
| chr1:185795815
|
G | A | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-50211G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795815 | ||||||
| chr1:185795871
|
C | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-50155C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795871 | ||||||
| chr1:185795884
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-50142A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185795884 | ||||||
| chr1:185796001
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-50025C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796001 | ||||||
| chr1:185796128
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-49898A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796128 | ||||||
| chr1:185796164
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-49862T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796164 | ||||||
| chr1:185796225
|
T | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-49801T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796225 | ||||||
| chr1:185796503
|
G | A | 1 | a0033c0029t0001g0009 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.269-49523G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796503 | ||||||
| chr1:185796626
|
C | CTG | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0083others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-49372_269-4937 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185796626 | |||||
| chr1:185796626
|
C | CTGTG | 2 | a0036c0032t0001g0064a0047c0014t0001g0055 | 2 | HG02055.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.269-49374_269-4937 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185796626 | |||||
| chr1:185796626
|
CTG | C | 12 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0091others(9): Show | 12 | HG00323.hp1 HG01891.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-49372_269-4937 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185796626 | |||||
| chr1:185796626
|
CTGTG | C | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-49374_269-4937 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185796626 | |||||
| chr1:185796632
|
G | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-49394G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796632 | ||||||
| chr1:185796634
|
G | C | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-49392G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796634 | ||||||
| chr1:185796996
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-49030C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185796996 | ||||||
| chr1:185797055
|
G | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-48971G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797055 | ||||||
| chr1:185797156
|
A | G | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0041c0028t0006g0002 | 3 | HG02258.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.269-48870A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797156 | ||||||
| chr1:185797281
|
G | A | 1 | a0009c0050t0002g0048 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.269-48745G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797281 | ||||||
| chr1:185797394
|
C | T | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.269-48632C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797394 | ||||||
| chr1:185797661
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-48365C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797661 | ||||||
| chr1:185797672
|
TAAGACTT others(315): Show |
T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-48341_269-4802 others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185797672 | |||||
| chr1:185797689
|
G | A | 4 | a0001c0001t0001g0078a0001c0001t0001g0083a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-48337G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797689 | ||||||
| chr1:185797835
|
G | A | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-48191G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797835 | ||||||
| chr1:185797960
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-48066C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185797960 | ||||||
| chr1:185797965
|
C | CA | 23 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0078others(20): Show | 23 | HG01074.hp1 HG01099.hp1 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.269-48030dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185797965 | |||||
| chr1:185797965
|
C | CAA | 11 | a0001c0001t0001g0010a0001c0001t0002g0032a0001c0001t0002g0042others(8): Show | 11 | HG00639.hp1 HG00735.hp1 HG01069.hp2 others(8): Show |
intron_variant | MODIFIER | c.269-48031_269-4803 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185797965 | |||||
| chr1:185797965
|
CA | C | 16 | a0002c0004t0001g0050a0002c0007t0002g0025a0002c0007t0002g0029others(13): Show | 16 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.269-48030delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185797965 | |||||
| chr1:185798001
|
T | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-48025T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798001 | ||||||
| chr1:185798075
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-47951C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798075 | ||||||
| chr1:185798192
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-47834T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798192 | ||||||
| chr1:185798315
|
T | C | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.269-47711T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798315 | ||||||
| chr1:185798372
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-47654A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798372 | ||||||
| chr1:185798648
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-47378G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798648 | ||||||
| chr1:185798693
|
T | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.269-47333T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798693 | ||||||
| chr1:185798738
|
A | ATATC | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-47278_269-4727 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185798738 | |||||
| chr1:185798836
|
G | A | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.269-47190G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798836 | ||||||
| chr1:185798887
|
T | C | 42 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(39): Show | 42 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.269-47139T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798887 | ||||||
| chr1:185798891
|
T | C | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.269-47135T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798891 | ||||||
| chr1:185798979
|
C | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-47047C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185798979 | ||||||
| chr1:185799003
|
T | A | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.269-47023T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799003 | ||||||
| chr1:185799013
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-47013A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799013 | ||||||
| chr1:185799098
|
TC | T | 2 | a0001c0001t0001g0082a0016c0047t0001g0081 | 2 | HG01891.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.269-46927delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799098 | ||||||
| chr1:185799106
|
TG | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-46919delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799106 | ||||||
| chr1:185799255
|
A | G | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-46771A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799255 | ||||||
| chr1:185799448
|
C | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-46578C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799448 | ||||||
| chr1:185799751
|
G | T | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-46275G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799751 | ||||||
| chr1:185799928
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-46098A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799928 | ||||||
| chr1:185799957
|
C | T | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-46069C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185799957 | ||||||
| chr1:185800243
|
T | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-45783T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800243 | ||||||
| chr1:185800378
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-45648C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800378 | ||||||
| chr1:185800615
|
A | G | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-45411A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800615 | ||||||
| chr1:185800652
|
C | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-45374C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800652 | ||||||
| chr1:185800751
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-45275T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800751 | ||||||
| chr1:185800995
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-45031C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185800995 | ||||||
| chr1:185801254
|
C | T | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-44772C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801254 | ||||||
| chr1:185801284
|
T | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-44742T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801284 | ||||||
| chr1:185801314
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-44712G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801314 | ||||||
| chr1:185801322
|
A | G | 5 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(2): Show | 5 | HG00323.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-44704A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801322 | ||||||
| chr1:185801388
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-44638G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801388 | ||||||
| chr1:185801540
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-44486G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801540 | ||||||
| chr1:185801548
|
A | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-44478A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801548 | ||||||
| chr1:185801715
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-44311C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801715 | ||||||
| chr1:185801723
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(11): Show | 14 | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.269-44303C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801723 | ||||||
| chr1:185801886
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-44140T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185801886 | ||||||
| chr1:185802009
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-44017T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802009 | ||||||
| chr1:185802108
|
T | C | 5 | a0004c0002t0001g0014a0004c0002t0001g0017a0005c0005t0003g0011others(2): Show | 5 | HG01243.hp1 HG02451.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.269-43918T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802108 | ||||||
| chr1:185802165
|
G | T | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-43861G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802165 | ||||||
| chr1:185802276
|
G | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-43750G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802276 | ||||||
| chr1:185802337
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-43689G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802337 | ||||||
| chr1:185802405
|
A | AT | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-43620dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185802405 | |||||
| chr1:185802658
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-43368C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185802658 | ||||||
| chr1:185803071
|
T | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-42955T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803071 | ||||||
| chr1:185803159
|
G | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-42867G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803159 | ||||||
| chr1:185803188
|
C | CA | 13 | a0001c0001t0001g0035a0001c0001t0002g0032a0001c0035t0001g0020others(10): Show | 13 | HG00323.hp2 HG00639.hp2 HG01069.hp2 others(10): Show |
intron_variant | MODIFIER | c.269-42823dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185803188 | |||||
| chr1:185803188
|
CA | C | 11 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0002g0089others(8): Show | 11 | HG01069.hp1 HG01891.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.269-42823delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185803188 | |||||
| chr1:185803188
|
CAA | C | 5 | a0001c0001t0001g0091a0001c0001t0002g0004a0005c0005t0003g0061others(2): Show | 5 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-42824_269-4282 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185803188 | |||||
| chr1:185803205
|
C | CA | 7 | a0002c0004t0001g0050a0002c0007t0002g0029a0002c0007t0006g0028others(4): Show | 7 | HG02486.hp1 HG02572.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.269-42803dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185803205 | |||||
| chr1:185803205
|
CAAAAAAA others(4): Show |
C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-42813_269-4280 others(15): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185803205 | |||||
| chr1:185803217
|
A | T | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-42809A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803217 | ||||||
| chr1:185803219
|
A | C | 1 | a0031c0023t0001g0074 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.269-42807A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803219 | ||||||
| chr1:185803229
|
CAAG | C | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-42796_269-4279 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803229 | ||||||
| chr1:185803414
|
A | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-42612A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803414 | ||||||
| chr1:185803616
|
C | A | 3 | a0001c0001t0001g0010a0027c0019t0001g0008a0033c0029t0001g0009 | 3 | HG00639.hp1 HG02486.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.269-42410C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803616 | ||||||
| chr1:185803653
|
A | G | 3 | a0004c0002t0001g0015a0004c0002t0001g0016a0029c0022t0001g0092 | 3 | HG01099.hp2 HG02280.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.269-42373A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803653 | ||||||
| chr1:185803675
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-42351C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803675 | ||||||
| chr1:185803789
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-42237G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803789 | ||||||
| chr1:185803891
|
C | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-42135C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803891 | ||||||
| chr1:185803910
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-42116T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185803910 | ||||||
| chr1:185804120
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-41906T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804120 | ||||||
| chr1:185804336
|
ATG | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41689_269-4168 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804336 | ||||||
| chr1:185804339
|
A | G | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41687A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804339 | ||||||
| chr1:185804342
|
C | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41684C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804342 | ||||||
| chr1:185804344
|
A | G | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41682A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804344 | ||||||
| chr1:185804347
|
G | C | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41679G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804347 | ||||||
| chr1:185804348
|
TTTG | T | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-41674_269-4167 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185804348 | |||||
| chr1:185804439
|
G | A | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-41587G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804439 | ||||||
| chr1:185804459
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-41567A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804459 | ||||||
| chr1:185804515
|
T | G | 42 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(39): Show | 42 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.269-41511T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804515 | ||||||
| chr1:185804697
|
C | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.269-41329C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804697 | ||||||
| chr1:185804822
|
C | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-41204C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804822 | ||||||
| chr1:185804894
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-41132T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185804894 | ||||||
| chr1:185805016
|
G | T | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.269-41010G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805016 | ||||||
| chr1:185805270
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-40756A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805270 | ||||||
| chr1:185805391
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-40635C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805391 | ||||||
| chr1:185805510
|
A | T | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0041c0028t0006g0002 | 3 | HG02258.hp1 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.269-40516A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805510 | ||||||
| chr1:185805543
|
A | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-40483A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805543 | ||||||
| chr1:185805649
|
A | C | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-40377A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805649 | ||||||
| chr1:185805870
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-40156T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805870 | ||||||
| chr1:185805911
|
G | A | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.269-40115G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805911 | ||||||
| chr1:185805958
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-40068T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185805958 | ||||||
| chr1:185806067
|
TATA | T | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG00323.hp1 HG01891.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-39943_269-3994 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185806067 | |||||
| chr1:185806114
|
T | A | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.269-39912T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185806114 | ||||||
| chr1:185806546
|
CA | C | 61 | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0001g0075others(58): Show | 61 | HG00323.hp1 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.269-39460delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185806546 | |||||
| chr1:185806546
|
CAA | C | 14 | a0001c0001t0001g0010a0001c0001t0001g0087a0001c0001t0001g0091others(11): Show | 14 | HG00639.hp1 HG00639.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.269-39461_269-3946 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185806546 | |||||
| chr1:185806637
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-39389A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185806637 | ||||||
| chr1:185807098
|
A | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-38928A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807098 | ||||||
| chr1:185807353
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-38673C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807353 | ||||||
| chr1:185807363
|
C | G | 1 | a0006c0006t0001g0049 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.269-38663C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807363 | ||||||
| chr1:185807472
|
C | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-38554C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807472 | ||||||
| chr1:185807581
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-38445A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807581 | ||||||
| chr1:185807603
|
C | T | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-38423C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807603 | ||||||
| chr1:185807645
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-38381A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807645 | ||||||
| chr1:185807731
|
T | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-38295T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807731 | ||||||
| chr1:185807775
|
A | G | 8 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(5): Show | 8 | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-38251A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807775 | ||||||
| chr1:185807801
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-38225A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807801 | ||||||
| chr1:185807879
|
G | C | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-38147G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185807879 | ||||||
| chr1:185808008
|
A | T | 7 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(4): Show | 7 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-38018A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808008 | ||||||
| chr1:185808022
|
A | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-38004A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808022 | ||||||
| chr1:185808110
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-37916C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808110 | ||||||
| chr1:185808161
|
T | C | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-37865T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808161 | ||||||
| chr1:185808250
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-37776G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808250 | ||||||
| chr1:185808426
|
C | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-37600C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808426 | ||||||
| chr1:185808481
|
T | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-37545T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808481 | ||||||
| chr1:185808722
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.269-37304G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808722 | ||||||
| chr1:185808738
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-37288T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808738 | ||||||
| chr1:185808877
|
G | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-37149G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185808877 | ||||||
| chr1:185809100
|
A | C | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.269-36926A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185809100 | ||||||
| chr1:185809445
|
A | AAC | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-36579_269-3657 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185809445 | |||||
| chr1:185809523
|
T | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-36503T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185809523 | ||||||
| chr1:185809632
|
C | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.269-36394C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185809632 | ||||||
| chr1:185809803
|
T | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-36223T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185809803 | ||||||
| chr1:185809849
|
T | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-36177T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185809849 | ||||||
| chr1:185810157
|
G | A | 10 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(7): Show | 10 | HG00323.hp1 HG02622.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-35869G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810157 | ||||||
| chr1:185810498
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-35528G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810498 | ||||||
| chr1:185810653
|
TTTG | T | 2 | a0003c0003t0001g0063a0025c0045t0001g0073 | 2 | HG04115.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.269-35371_269-3536 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810653 | |||||
| chr1:185810654
|
T | TTG | 8 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0029others(5): Show | 8 | HG02258.hp2 HG02809.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.269-35338_269-3533 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810654
|
T | TTGTG | 10 | a0002c0007t0002g0025a0004c0002t0001g0014a0004c0002t0001g0015others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-35340_269-3533 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810654
|
TTG | T | 27 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(24): Show | 27 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(24): Show |
intron_variant | MODIFIER | c.269-35338_269-3533 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810654
|
TTGTG | T | 20 | a0001c0001t0001g0082a0001c0001t0001g0083a0003c0003t0001g0054others(17): Show | 20 | HG00323.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.269-35340_269-3533 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810654
|
TTGTGTG | T | 3 | a0001c0001t0001g0078a0001c0001t0002g0004a0047c0014t0001g0055 | 3 | HG02055.hp2 HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.269-35342_269-3533 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810654
|
TTGTGTGT others(1): Show |
T | 2 | a0009c0052t0002g0077a0035c0030t0001g0065 | 2 | HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.269-35344_269-3533 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810654 | |||||
| chr1:185810740
|
T | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-35286T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810740 | ||||||
| chr1:185810861
|
T | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-35165T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810861 | ||||||
| chr1:185810877
|
A | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-35149A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810877 | ||||||
| chr1:185810951
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.269-35075C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185810951 | ||||||
| chr1:185810982
|
T | TA | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-35038dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185810982 | |||||
| chr1:185811610
|
T | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-34416T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185811610 | ||||||
| chr1:185811729
|
T | TA | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-34286dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185811729 | |||||
| chr1:185811729
|
TAA | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-34287_269-3428 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185811729 | |||||
| chr1:185811827
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.269-34199C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185811827 | ||||||
| chr1:185811905
|
G | A | 19 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(16): Show | 19 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.269-34121G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185811905 | ||||||
| chr1:185812073
|
T | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-33953T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812073 | ||||||
| chr1:185812146
|
AT | A | 7 | a0001c0001t0001g0075a0006c0006t0005g0080a0012c0017t0001g0062others(4): Show | 7 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-33870delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185812146 | |||||
| chr1:185812161
|
C | T | 4 | a0001c0001t0002g0004a0005c0005t0003g0061a0007c0010t0001g0005others(1): Show | 4 | HG02055.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-33865C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812161 | ||||||
| chr1:185812317
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-33709C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812317 | ||||||
| chr1:185812415
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-33611A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812415 | ||||||
| chr1:185812419
|
A | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-33607A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812419 | ||||||
| chr1:185812420
|
G | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-33606G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812420 | ||||||
| chr1:185812527
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-33499G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812527 | ||||||
| chr1:185812631
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-33395A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812631 | ||||||
| chr1:185812678
|
A | G | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-33348A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812678 | ||||||
| chr1:185812694
|
A | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-33332A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812694 | ||||||
| chr1:185812775
|
G | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-33251G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812775 | ||||||
| chr1:185812806
|
C | CT | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-33220_269-3321 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812806 | ||||||
| chr1:185812978
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-33048A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812978 | ||||||
| chr1:185812979
|
CAT | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-33046_269-3304 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185812979 | ||||||
| chr1:185813231
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-32795A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813231 | ||||||
| chr1:185813553
|
A | G | 5 | a0001c0001t0001g0010a0027c0019t0001g0008a0033c0029t0001g0009others(2): Show | 5 | HG00639.hp1 HG02486.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-32473A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813553 | ||||||
| chr1:185813649
|
G | A | 3 | a0005c0005t0003g0061a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02055.hp1 HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.269-32377G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813649 | ||||||
| chr1:185813858
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.269-32168C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813858 | ||||||
| chr1:185813868
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-32158G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813868 | ||||||
| chr1:185813928
|
T | C | 17 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0002g0032others(14): Show | 17 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-32098T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813928 | ||||||
| chr1:185813981
|
T | C | 3 | a0001c0001t0001g0075a0031c0023t0001g0074a0039c0033t0001g0076 | 3 | HG00735.hp1 HG01099.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.269-32045T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185813981 | ||||||
| chr1:185814104
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-31922G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185814104 | ||||||
| chr1:185814298
|
A | AT | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-31721dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185814298 | |||||
| chr1:185814429
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-31597G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185814429 | ||||||
| chr1:185814580
|
GAGTTACT others(1578): Show |
G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-31443_269-2985 others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185814580 | |||||
| chr1:185814696
|
A | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-31330A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185814696 | ||||||
| chr1:185814700
|
T | A | 75 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(72): Show | 75 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.269-31326T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185814700 | ||||||
| chr1:185814900
|
C | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-31126C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185814900 | ||||||
| chr1:185815089
|
G | A | 9 | a0005c0005t0003g0061a0007c0010t0001g0005a0007c0010t0002g0003others(6): Show | 9 | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.269-30937G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815089 | ||||||
| chr1:185815337
|
G | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.269-30689G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815337 | ||||||
| chr1:185815442
|
G | A | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-30584G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815442 | ||||||
| chr1:185815456
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-30570A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815456 | ||||||
| chr1:185815487
|
T | C | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.269-30539T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815487 | ||||||
| chr1:185815665
|
T | A | 1 | a0002c0004t0002g0023 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.269-30361T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815665 | ||||||
| chr1:185815853
|
A | G | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.269-30173A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815853 | ||||||
| chr1:185815929
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-30097T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815929 | ||||||
| chr1:185815979
|
A | T | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-30047A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185815979 | ||||||
| chr1:185816051
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-29975T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816051 | ||||||
| chr1:185816066
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-29960C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816066 | ||||||
| chr1:185816123
|
A | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-29903A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816123 | ||||||
| chr1:185816221
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-29805C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816221 | ||||||
| chr1:185816244
|
G | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-29782G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816244 | ||||||
| chr1:185816333
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.269-29693A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816333 | ||||||
| chr1:185816474
|
A | T | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.269-29552A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816474 | ||||||
| chr1:185816796
|
G | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-29230G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185816796 | ||||||
| chr1:185817043
|
A | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-28983A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817043 | ||||||
| chr1:185817079
|
T | C | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.269-28947T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817079 | ||||||
| chr1:185817364
|
G | T | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-28662G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817364 | ||||||
| chr1:185817427
|
A | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-28599A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817427 | ||||||
| chr1:185817477
|
A | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-28549A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817477 | ||||||
| chr1:185817527
|
A | T | 3 | a0005c0005t0003g0061a0007c0010t0001g0005a0007c0010t0002g0003 | 3 | HG02055.hp1 HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.269-28499A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817527 | ||||||
| chr1:185817735
|
A | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-28291A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817735 | ||||||
| chr1:185817879
|
T | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-28147T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817879 | ||||||
| chr1:185817896
|
A | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-28130A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185817896 | ||||||
| chr1:185818251
|
A | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-27775A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818251 | ||||||
| chr1:185818390
|
T | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-27636T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818390 | ||||||
| chr1:185818522
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-27504A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818522 | ||||||
| chr1:185818602
|
A | G | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-27424A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818602 | ||||||
| chr1:185818608
|
C | G | 1 | a0004c0002t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.269-27418C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818608 | ||||||
| chr1:185818804
|
C | T | 8 | a0001c0001t0001g0075a0003c0003t0001g0063a0006c0006t0005g0080others(5): Show | 8 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.269-27222C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818804 | ||||||
| chr1:185818835
|
CTT | C | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG01243.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-27190_269-2718 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185818835 | ||||||
| chr1:185819009
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-27017C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819009 | ||||||
| chr1:185819052
|
C | T | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-26974C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819052 | ||||||
| chr1:185819053
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-26973A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819053 | ||||||
| chr1:185819136
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-26890C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819136 | ||||||
| chr1:185819206
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-26820C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819206 | ||||||
| chr1:185819237
|
C | CAAAAAAA others(8): Show |
1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-26775_269-2677 others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185819237 | |||||
| chr1:185819237
|
CAAA | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-26777_269-2677 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185819237 | |||||
| chr1:185819307
|
A | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-26719A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819307 | ||||||
| chr1:185819331
|
C | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-26695C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819331 | ||||||
| chr1:185819334
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-26692T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819334 | ||||||
| chr1:185819539
|
G | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-26487G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819539 | ||||||
| chr1:185819684
|
G | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-26342G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819684 | ||||||
| chr1:185819980
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-26046T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185819980 | ||||||
| chr1:185820129
|
G | T | 1 | a0002c0004t0002g0023 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.269-25897G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820129 | ||||||
| chr1:185820261
|
T | C | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.269-25765T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820261 | ||||||
| chr1:185820284
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-25742A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820284 | ||||||
| chr1:185820316
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-25710A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820316 | ||||||
| chr1:185820338
|
C | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-25688C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820338 | ||||||
| chr1:185820416
|
T | C | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.269-25610T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820416 | ||||||
| chr1:185820424
|
C | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-25602C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820424 | ||||||
| chr1:185820448
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-25578C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820448 | ||||||
| chr1:185820530
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-25496G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820530 | ||||||
| chr1:185820819
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-25207G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820819 | ||||||
| chr1:185820833
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-25193A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185820833 | ||||||
| chr1:185821055
|
C | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-24971C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185821055 | ||||||
| chr1:185821194
|
TG | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-24830delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185821194 | |||||
| chr1:185821290
|
G | A | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.269-24736G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185821290 | ||||||
| chr1:185821643
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-24383T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185821643 | ||||||
| chr1:185821887
|
T | TA | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG01069.hp1 HG01891.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-24123dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185821887 | |||||
| chr1:185821949
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-24077A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185821949 | ||||||
| chr1:185821960
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-24066T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185821960 | ||||||
| chr1:185822085
|
T | A | 4 | a0008c0009t0001g0084a0008c0009t0002g0085a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG01069.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-23941T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822085 | ||||||
| chr1:185822097
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-23929T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822097 | ||||||
| chr1:185822433
|
GC | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-23588delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185822433 | |||||
| chr1:185822594
|
C | T | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-23432C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822594 | ||||||
| chr1:185822639
|
T | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-23387T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822639 | ||||||
| chr1:185822821
|
T | A | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-23205T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822821 | ||||||
| chr1:185822856
|
TC | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-23169delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822856 | ||||||
| chr1:185822940
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.269-23086C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185822940 | ||||||
| chr1:185823174
|
TACTG | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-22848_269-2284 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185823174 | |||||
| chr1:185823239
|
A | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-22787A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823239 | ||||||
| chr1:185823361
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.269-22665C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823361 | ||||||
| chr1:185823642
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-22384A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823642 | ||||||
| chr1:185823860
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-22166G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823860 | ||||||
| chr1:185823900
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.269-22126C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823900 | ||||||
| chr1:185823914
|
T | C | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.269-22112T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823914 | ||||||
| chr1:185823997
|
C | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-22029C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185823997 | ||||||
| chr1:185824357
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-21669A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824357 | ||||||
| chr1:185824447
|
A | G | 1 | a0028c0020t0002g0068 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.269-21579A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824447 | ||||||
| chr1:185824457
|
C | T | 1 | a0017c0054t0003g0027 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.269-21569C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824457 | ||||||
| chr1:185824460
|
G | A | 20 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(17): Show | 20 | HG00323.hp1 HG01069.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.269-21566G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824460 | ||||||
| chr1:185824563
|
A | C | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-21463A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824563 | ||||||
| chr1:185824571
|
C | T | 2 | a0002c0004t0001g0030a0017c0054t0003g0027 | 2 | HG02922.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.269-21455C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824571 | ||||||
| chr1:185824739
|
G | C | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.269-21287G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824739 | ||||||
| chr1:185824840
|
A | G | 5 | a0001c0001t0001g0010a0027c0019t0001g0008a0033c0029t0001g0009others(2): Show | 5 | HG00639.hp1 HG02486.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-21186A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185824840 | ||||||
| chr1:185825050
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-20976A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825050 | ||||||
| chr1:185825115
|
C | T | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-20911C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825115 | ||||||
| chr1:185825120
|
A | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.269-20906A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825120 | ||||||
| chr1:185825183
|
G | T | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-20843G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825183 | ||||||
| chr1:185825414
|
C | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.269-20612C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825414 | ||||||
| chr1:185825433
|
G | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-20593G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825433 | ||||||
| chr1:185825648
|
T | A | 2 | a0002c0004t0001g0030a0017c0054t0003g0027 | 2 | HG02922.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.269-20378T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825648 | ||||||
| chr1:185825664
|
G | T | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.269-20362G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825664 | ||||||
| chr1:185825751
|
G | A | 5 | a0004c0002t0001g0072a0011c0008t0001g0069a0011c0008t0001g0070others(2): Show | 5 | HG01192.hp2 HG02886.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-20275G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825751 | ||||||
| chr1:185825799
|
A | G | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.269-20227A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825799 | ||||||
| chr1:185825888
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-20138G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825888 | ||||||
| chr1:185825892
|
A | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.269-20134A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825892 | ||||||
| chr1:185825964
|
C | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-20062C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185825964 | ||||||
| chr1:185826102
|
ATAAAG | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-19921_269-1991 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185826102 | |||||
| chr1:185826120
|
T | TG | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.269-19906_269-1990 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826120 | ||||||
| chr1:185826208
|
A | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0034c0031t0001g0006others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.269-19818A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826208 | ||||||
| chr1:185826379
|
A | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-19647A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826379 | ||||||
| chr1:185826675
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-19351T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826675 | ||||||
| chr1:185826807
|
G | A | 1 | a0012c0017t0001g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.269-19219G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826807 | ||||||
| chr1:185826951
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-19075C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826951 | ||||||
| chr1:185826952
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-19074G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185826952 | ||||||
| chr1:185827012
|
TAA | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.269-19010_269-1900 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185827012 | |||||
| chr1:185827037
|
G | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-18989G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185827037 | ||||||
| chr1:185827171
|
CA | C | 9 | a0004c0002t0001g0014a0008c0009t0002g0085a0013c0011t0004g0057others(6): Show | 9 | HG00323.hp1 HG02055.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.269-18838delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185827171 | |||||
| chr1:185827646
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG00323.hp1 HG01891.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.269-18380T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185827646 | ||||||
| chr1:185828034
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-17992C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828034 | ||||||
| chr1:185828087
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-17939A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828087 | ||||||
| chr1:185828139
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-17887G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828139 | ||||||
| chr1:185828369
|
G | T | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-17657G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828369 | ||||||
| chr1:185828533
|
C | G | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.269-17493C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828533 | ||||||
| chr1:185828831
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG00323.hp1 HG01891.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.269-17195T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185828831 | ||||||
| chr1:185829300
|
T | A | 41 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(38): Show | 41 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(38): Show |
intron_variant | MODIFIER | c.269-16726T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185829300 | ||||||
| chr1:185829658
|
T | C | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.269-16368T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185829658 | ||||||
| chr1:185830048
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-15978T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830048 | ||||||
| chr1:185830208
|
T | C | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-15818T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830208 | ||||||
| chr1:185830314
|
G | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG00323.hp1 HG01891.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.269-15712G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830314 | ||||||
| chr1:185830327
|
C | T | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.269-15699C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830327 | ||||||
| chr1:185830391
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01891.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-15635C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830391 | ||||||
| chr1:185830748
|
C | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.269-15278C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830748 | ||||||
| chr1:185830949
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-15077C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185830949 | ||||||
| chr1:185831154
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-14872T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831154 | ||||||
| chr1:185831438
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-14588C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831438 | ||||||
| chr1:185831540
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-14486C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831540 | ||||||
| chr1:185831644
|
A | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-14382A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831644 | ||||||
| chr1:185831767
|
A | C | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.269-14259A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831767 | ||||||
| chr1:185831992
|
T | A | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-14034T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185831992 | ||||||
| chr1:185832012
|
A | T | 19 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(16): Show | 19 | HG00323.hp1 HG01243.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.269-14014A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832012 | ||||||
| chr1:185832013
|
T | G | 19 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(16): Show | 19 | HG00323.hp1 HG01243.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.269-14013T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832013 | ||||||
| chr1:185832100
|
A | C | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-13926A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832100 | ||||||
| chr1:185832234
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-13792T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832234 | ||||||
| chr1:185832283
|
A | G | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-13743A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832283 | ||||||
| chr1:185832874
|
T | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.269-13152T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832874 | ||||||
| chr1:185832886
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-13140G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185832886 | ||||||
| chr1:185833213
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-12813G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833213 | ||||||
| chr1:185833219
|
A | G | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-12807A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833219 | ||||||
| chr1:185833291
|
T | C | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.269-12735T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833291 | ||||||
| chr1:185833339
|
T | A | 42 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(39): Show | 42 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(39): Show |
intron_variant | MODIFIER | c.269-12687T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833339 | ||||||
| chr1:185833383
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-12643T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833383 | ||||||
| chr1:185833470
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-12556A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833470 | ||||||
| chr1:185833502
|
A | T | 1 | a0002c0007t0002g0025 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.269-12524A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833502 | ||||||
| chr1:185833740
|
T | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.269-12286T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833740 | ||||||
| chr1:185833937
|
C | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01891.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-12089C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833937 | ||||||
| chr1:185833979
|
G | T | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-12047G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185833979 | ||||||
| chr1:185834140
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-11886C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834140 | ||||||
| chr1:185834208
|
A | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-11818A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834208 | ||||||
| chr1:185834417
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-11609G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834417 | ||||||
| chr1:185834752
|
A | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.269-11274A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834752 | ||||||
| chr1:185834758
|
G | A | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.269-11268G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834758 | ||||||
| chr1:185834922
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-11104T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834922 | ||||||
| chr1:185834945
|
T | A | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-11081T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185834945 | ||||||
| chr1:185835052
|
A | T | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-10974A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835052 | ||||||
| chr1:185835198
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-10828T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835198 | ||||||
| chr1:185835403
|
T | G | 18 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(15): Show | 18 | HG00323.hp1 HG01243.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.269-10623T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835403 | ||||||
| chr1:185835440
|
G | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.269-10586G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835440 | ||||||
| chr1:185835647
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-10379T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835647 | ||||||
| chr1:185835757
|
G | GA | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-10263dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185835757 | |||||
| chr1:185835803
|
G | T | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-10223G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185835803 | ||||||
| chr1:185836200
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-9826G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185836200 | ||||||
| chr1:185836307
|
G | A | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-9719G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185836307 | ||||||
| chr1:185836516
|
G | T | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.269-9510G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185836516 | ||||||
| chr1:185836575
|
G | A | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-9451G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185836575 | ||||||
| chr1:185836886
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.269-9140G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185836886 | ||||||
| chr1:185837005
|
G | GGT | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00735.hp1 HG01069.hp1 HG01074.hp1 others(42): Show |
intron_variant | MODIFIER | c.269-8996_269-8995d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185837005 | |||||
| chr1:185837005
|
G | GGTGT | 3 | a0001c0001t0001g0087a0017c0054t0003g0027a0030c0021t0001g0067 | 3 | HG03041.hp1 HG03942.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.269-8998_269-8995d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185837005 | |||||
| chr1:185837005
|
GGTGTGTG others(5): Show |
G | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.269-9006_269-8995d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185837005 | |||||
| chr1:185837032
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-8994A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185837032 | ||||||
| chr1:185837469
|
T | TCAGATAT others(346): Show |
1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.269-8540_269-8539i others(355): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185837469 | |||||
| chr1:185837515
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.269-8511A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185837515 | ||||||
| chr1:185837606
|
A | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.269-8420A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185837606 | ||||||
| chr1:185837962
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-8064C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185837962 | ||||||
| chr1:185838541
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.269-7485T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185838541 | ||||||
| chr1:185838569
|
T | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-7457T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185838569 | ||||||
| chr1:185839110
|
A | G | 1 | a0004c0002t0001g0072 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.269-6916A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185839110 | ||||||
| chr1:185839445
|
T | C | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-6581T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185839445 | ||||||
| chr1:185839746
|
A | C | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.269-6280A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185839746 | ||||||
| chr1:185839892
|
T | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-6134T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185839892 | ||||||
| chr1:185840081
|
T | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-5945T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185840081 | ||||||
| chr1:185840172
|
G | A | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.269-5854G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185840172 | ||||||
| chr1:185841450
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.269-4576G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841450 | ||||||
| chr1:185841466
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-4560G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841466 | ||||||
| chr1:185841689
|
A | G | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-4337A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841689 | ||||||
| chr1:185841824
|
G | T | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-4202G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841824 | ||||||
| chr1:185841885
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-4141T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841885 | ||||||
| chr1:185841921
|
G | A | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-4105G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185841921 | ||||||
| chr1:185842002
|
C | T | 7 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(4): Show | 7 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.269-4024C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842002 | ||||||
| chr1:185842188
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-3838G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842188 | ||||||
| chr1:185842217
|
T | C | 2 | a0015c0012t0008g0001a0047c0014t0001g0055 | 2 | HG00323.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.269-3809T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842217 | ||||||
| chr1:185842445
|
G | A | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.269-3581G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842445 | ||||||
| chr1:185842573
|
T | TA | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG02055.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-3446dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185842573 | |||||
| chr1:185842707
|
A | G | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG02055.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-3319A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842707 | ||||||
| chr1:185842730
|
TA | T | 4 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG02055.hp2 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.269-3282delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | 185842730 | |||||
| chr1:185842946
|
G | A | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.269-3080G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842946 | ||||||
| chr1:185842949
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-3077A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185842949 | ||||||
| chr1:185843204
|
A | G | 34 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(31): Show | 34 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(31): Show |
intron_variant | MODIFIER | c.269-2822A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843204 | ||||||
| chr1:185843237
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.269-2789C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843237 | ||||||
| chr1:185843285
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-2741G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843285 | ||||||
| chr1:185843316
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-2710C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843316 | ||||||
| chr1:185843338
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-2688G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843338 | ||||||
| chr1:185843776
|
G | C | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.269-2250G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843776 | ||||||
| chr1:185843779
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-2247G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843779 | ||||||
| chr1:185843972
|
T | C | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.269-2054T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843972 | ||||||
| chr1:185843992
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-2034C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185843992 | ||||||
| chr1:185844084
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-1942A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844084 | ||||||
| chr1:185844114
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-1912A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844114 | ||||||
| chr1:185844148
|
G | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.269-1878G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844148 | ||||||
| chr1:185844171
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.269-1855T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844171 | ||||||
| chr1:185844328
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-1698T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844328 | ||||||
| chr1:185844366
|
G | A | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.269-1660G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844366 | ||||||
| chr1:185844433
|
C | T | 2 | a0001c0001t0001g0078a0009c0052t0002g0077 | 2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.269-1593C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844433 | ||||||
| chr1:185844470
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-1556T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844470 | ||||||
| chr1:185844747
|
A | C | 17 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0002g0032others(14): Show | 17 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(14): Show |
intron_variant | MODIFIER | c.269-1279A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844747 | ||||||
| chr1:185844938
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.269-1088A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185844938 | ||||||
| chr1:185845056
|
G | A | 2 | a0001c0001t0001g0082a0016c0047t0001g0081 | 2 | HG01891.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.269-970G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845056 | ||||||
| chr1:185845288
|
G | A | 3 | a0001c0001t0002g0004a0008c0009t0001g0084a0021c0057t0001g0019 | 3 | HG01069.hp1 HG02615.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.269-738G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845288 | ||||||
| chr1:185845358
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.269-668C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845358 | ||||||
| chr1:185845783
|
A | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.269-243A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845783 | ||||||
| chr1:185845931
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.269-95A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845931 | ||||||
| chr1:185845932
|
T | A | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.269-94T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | chr1 | 185845932 | ||||||
| chr1:185846364
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+268T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846364 | ||||||
| chr1:185846436
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+340G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846436 | ||||||
| chr1:185846545
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+449T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846545 | ||||||
| chr1:185846549
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+453T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846549 | ||||||
| chr1:185846665
|
G | A | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.339+569G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846665 | ||||||
| chr1:185846925
|
T | C | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.339+829T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185846925 | ||||||
| chr1:185847011
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+915T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847011 | ||||||
| chr1:185847045
|
T | C | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.339+949T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847045 | ||||||
| chr1:185847069
|
C | T | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.339+973C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847069 | ||||||
| chr1:185847110
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+1014A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847110 | ||||||
| chr1:185847132
|
G | GT | 30 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(27): Show | 30 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.339+1046dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185847132 | |||||
| chr1:185847281
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.339+1185A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847281 | ||||||
| chr1:185847791
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+1695G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847791 | ||||||
| chr1:185847982
|
TG | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.339+1887delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185847982 | ||||||
| chr1:185848132
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.339+2036C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185848132 | ||||||
| chr1:185848738
|
C | G | 1 | a0003c0003t0001g0039 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.339+2642C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185848738 | ||||||
| chr1:185848805
|
TTAGTAAG others(5): Show |
T | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.339+2711_339+2722d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185848805 | |||||
| chr1:185849050
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+2954C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185849050 | ||||||
| chr1:185849225
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.339+3129A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185849225 | ||||||
| chr1:185849300
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.339+3204A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185849300 | ||||||
| chr1:185849624
|
A | T | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.339+3528A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185849624 | ||||||
| chr1:185849968
|
GAA | G | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.339+3879_339+3880d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185849968 | |||||
| chr1:185850022
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.339+3926A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185850022 | ||||||
| chr1:185850135
|
A | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.339+4039A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185850135 | ||||||
| chr1:185850425
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.339+4329T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185850425 | ||||||
| chr1:185850774
|
CT | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.339+4688delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185850774 | |||||
| chr1:185850887
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+4791A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185850887 | ||||||
| chr1:185851112
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.339+5016T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851112 | ||||||
| chr1:185851184
|
G | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.339+5088G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851184 | ||||||
| chr1:185851202
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+5106C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851202 | ||||||
| chr1:185851251
|
T | G | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.339+5155T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851251 | ||||||
| chr1:185851327
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.339+5231G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851327 | ||||||
| chr1:185851620
|
G | A | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.339+5524G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185851620 | ||||||
| chr1:185852070
|
A | G | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.339+5974A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185852070 | ||||||
| chr1:185852484
|
C | T | 1 | a0003c0003t0001g0039 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.339+6388C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185852484 | ||||||
| chr1:185852577
|
T | TAC | 5 | a0003c0003t0001g0051a0004c0002t0001g0014a0004c0002t0001g0017others(2): Show | 5 | HG01261.hp1 HG01516.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.339+6528_339+6529d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TAC | T | 15 | a0001c0001t0001g0052a0001c0001t0002g0021a0001c0015t0001g0045others(12): Show | 15 | HG00735.hp1 HG00735.hp2 HG01099.hp2 others(12): Show |
intron_variant | MODIFIER | c.339+6528_339+6529d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACAC | T | 26 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0087others(23): Show | 26 | HG00323.hp2 HG01069.hp2 HG01074.hp1 others(23): Show |
intron_variant | MODIFIER | c.339+6526_339+6529d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACACAC | T | 17 | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0082others(14): Show | 17 | HG00639.hp1 HG00639.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.339+6524_339+6529d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACACACA others(1): Show |
T | 13 | a0001c0001t0002g0004a0002c0004t0001g0030a0002c0004t0001g0050others(10): Show | 13 | HG01069.hp1 HG02040.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.339+6522_339+6529d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACACACA others(3): Show |
T | 3 | a0018c0046t0001g0059a0021c0057t0001g0019a0041c0028t0006g0002 | 3 | HG03041.hp2 HG03139.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.339+6520_339+6529d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACACACA others(11): Show |
T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.339+6512_339+6529d others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852577
|
TACACACA others(13): Show |
T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+6510_339+6529d others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185852577 | |||||
| chr1:185852625
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+6529C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185852625 | ||||||
| chr1:185852896
|
A | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.339+6800A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185852896 | ||||||
| chr1:185852914
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+6818C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185852914 | ||||||
| chr1:185853158
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+7062A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853158 | ||||||
| chr1:185853526
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.339+7430C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853526 | ||||||
| chr1:185853551
|
A | G | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0007c0010t0001g0005others(1): Show | 4 | HG01243.hp1 HG02109.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.339+7455A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853551 | ||||||
| chr1:185853625
|
G | A | 21 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(18): Show | 21 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.339+7529G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853625 | ||||||
| chr1:185853685
|
C | T | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0007c0010t0001g0005others(1): Show | 4 | HG01243.hp1 HG02109.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.339+7589C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853685 | ||||||
| chr1:185853755
|
G | T | 1 | a0002c0007t0002g0025 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.339+7659G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853755 | ||||||
| chr1:185853850
|
A | C | 51 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(48): Show | 51 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.339+7754A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185853850 | ||||||
| chr1:185854320
|
G | C | 1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.339+8224G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185854320 | ||||||
| chr1:185854407
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.339+8311C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185854407 | ||||||
| chr1:185854488
|
G | A | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.339+8392G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185854488 | ||||||
| chr1:185854693
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.339+8597T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185854693 | ||||||
| chr1:185855002
|
T | C | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.339+8906T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855002 | ||||||
| chr1:185855079
|
G | A | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.339+8983G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855079 | ||||||
| chr1:185855324
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-9146C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855324 | ||||||
| chr1:185855429
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-9041T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855429 | ||||||
| chr1:185855433
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.340-9037T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855433 | ||||||
| chr1:185855714
|
A | G | 1 | a0002c0004t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.340-8756A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185855714 | ||||||
| chr1:185856358
|
C | T | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.340-8112C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185856358 | ||||||
| chr1:185856443
|
G | A | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.340-8027G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185856443 | ||||||
| chr1:185856467
|
G | A | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.340-8003G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185856467 | ||||||
| chr1:185856487
|
C | CA | 23 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0001g0083others(20): Show | 23 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.340-7967dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185856487 | |||||
| chr1:185856487
|
CA | C | 4 | a0001c0001t0001g0078a0001c0001t0002g0004a0013c0011t0004g0057others(1): Show | 4 | HG02258.hp1 HG02280.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.340-7967delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185856487 | |||||
| chr1:185856703
|
T | C | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.340-7767T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185856703 | ||||||
| chr1:185856807
|
G | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.340-7663G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185856807 | ||||||
| chr1:185857183
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-7287G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857183 | ||||||
| chr1:185857195
|
G | A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.340-7275G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857195 | ||||||
| chr1:185857201
|
G | A | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.340-7269G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857201 | ||||||
| chr1:185857363
|
A | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.340-7107A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857363 | ||||||
| chr1:185857465
|
T | TTG | 23 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(20): Show | 23 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.340-6982_340-6981d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185857465 | |||||
| chr1:185857465
|
T | TTGTG | 2 | a0022c0049t0001g0037a0041c0028t0006g0002 | 2 | HG03041.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.340-6984_340-6981d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185857465 | |||||
| chr1:185857465
|
TTGTGTGT others(7): Show |
T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.340-6994_340-6981d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185857465 | |||||
| chr1:185857475
|
G | T | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.340-6995G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857475 | ||||||
| chr1:185857605
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.340-6865T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857605 | ||||||
| chr1:185857736
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.340-6734G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857736 | ||||||
| chr1:185857813
|
T | C | 1 | a0002c0004t0002g0023 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.340-6657T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857813 | ||||||
| chr1:185857969
|
T | G | 21 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(18): Show | 21 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.340-6501T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857969 | ||||||
| chr1:185857987
|
T | C | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.340-6483T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857987 | ||||||
| chr1:185857996
|
A | G | 31 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(28): Show | 31 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.340-6474A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185857996 | ||||||
| chr1:185858106
|
G | A | 33 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(30): Show | 33 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(30): Show |
intron_variant | MODIFIER | c.340-6364G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185858106 | ||||||
| chr1:185858295
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-6175C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185858295 | ||||||
| chr1:185858547
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-5923C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185858547 | ||||||
| chr1:185858554
|
GCTATATG others(1): Show |
G | 61 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(58): Show | 61 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.340-5906_340-5899d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858554 | |||||
| chr1:185858586
|
A | ATT | 5 | a0001c0001t0002g0042a0005c0005t0003g0011a0005c0005t0003g0012others(2): Show | 5 | HG01074.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.340-5838_340-5837d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
A | ATTTT | 6 | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0002g0089others(3): Show | 6 | HG01192.hp1 HG02109.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.340-5840_340-5837d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
A | ATTTTT | 5 | a0001c0001t0001g0078a0001c0001t0002g0090a0010c0053t0001g0079others(2): Show | 5 | HG01891.hp2 HG02280.hp1 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.340-5841_340-5837d others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
A | ATTTTTT | 5 | a0002c0004t0002g0024a0003c0003t0001g0063a0012c0017t0001g0062others(2): Show | 5 | HG01074.hp1 HG02698.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.340-5842_340-5837d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
A | ATTTTTTT others(4): Show |
1 | a0011c0008t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.340-5847_340-5837d others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
A | ATTTTTTT others(5): Show |
4 | a0001c0001t0001g0082a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03195.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.340-5848_340-5837d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
AT | A | 8 | a0002c0007t0002g0025a0003c0003t0001g0039a0003c0003t0001g0051others(5): Show | 8 | HG00323.hp2 HG00735.hp2 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.340-5837delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATT | A | 7 | a0001c0001t0001g0052a0001c0001t0002g0021a0001c0001t0002g0032others(4): Show | 7 | HG00323.hp1 HG01069.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.340-5838_340-5837d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTT | A | 7 | a0003c0018t0002g0046a0004c0002t0001g0014a0004c0002t0001g0017others(4): Show | 7 | HG02451.hp2 HG02698.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.340-5839_340-5837d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTT | A | 4 | a0001c0001t0001g0010a0033c0029t0001g0009a0038c0036t0005g0033others(1): Show | 4 | HG00639.hp1 HG00639.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.340-5840_340-5837d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTT | A | 5 | a0002c0004t0001g0030a0002c0007t0002g0029a0002c0007t0006g0028others(2): Show | 5 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.340-5841_340-5837d others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(3): Show |
A | 2 | a0006c0006t0005g0080a0008c0009t0001g0084 | 2 | HG01069.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.340-5846_340-5837d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(4): Show |
A | 3 | a0018c0046t0001g0059a0021c0057t0001g0019a0044c0041t0001g0060 | 3 | HG01978.hp2 HG03139.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.340-5847_340-5837d others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(5): Show |
A | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.340-5848_340-5837d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0001g0091 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.340-5850_340-5837d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(8): Show |
A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.340-5851_340-5837d others(17): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(9): Show |
A | 3 | a0001c0001t0001g0035a0031c0023t0001g0074a0039c0033t0001g0076 | 3 | HG00735.hp1 HG02040.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.340-5852_340-5837d others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(10): Show |
A | 2 | a0001c0001t0001g0075a0007c0010t0001g0005 | 2 | HG01099.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.340-5853_340-5837d others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(11): Show |
A | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.340-5854_340-5837d others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(12): Show |
A | 2 | a0028c0020t0002g0068a0029c0022t0001g0092 | 2 | HG02723.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.340-5855_340-5837d others(21): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(14): Show |
A | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.340-5857_340-5837d others(23): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(19): Show |
A | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.340-5862_340-5837d others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(23): Show |
A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.340-5866_340-5837d others(32): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858586
|
ATTTTTTT others(26): Show |
A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.340-5869_340-5837d others(35): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858586 | |||||
| chr1:185858632
|
T | TTTTTTTT others(3): Show |
1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.340-5837_340-5836i others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185858632 | |||||
| chr1:185858662
|
G | A | 1 | a0023c0048t0002g0026 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.340-5808G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185858662 | ||||||
| chr1:185859019
|
ATG | A | 23 | a0001c0001t0001g0052a0001c0001t0001g0087a0001c0001t0001g0091others(20): Show | 23 | HG00735.hp2 HG01074.hp2 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.340-5409_340-5408d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859019
|
ATGTG | A | 14 | a0001c0001t0001g0010a0002c0007t0006g0028a0004c0002t0001g0014others(11): Show | 14 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(11): Show |
intron_variant | MODIFIER | c.340-5411_340-5408d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859019
|
ATGTGTG | A | 19 | a0001c0001t0001g0035a0001c0001t0001g0078a0001c0001t0001g0082others(16): Show | 19 | HG01069.hp2 HG01243.hp2 HG02040.hp2 others(16): Show |
intron_variant | MODIFIER | c.340-5413_340-5408d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859019
|
ATGTGTGT others(1): Show |
A | 19 | a0001c0001t0001g0075a0001c0001t0001g0083a0001c0001t0002g0004others(16): Show | 19 | HG00735.hp1 HG01069.hp1 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.340-5415_340-5408d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859019
|
ATGTGTGT others(3): Show |
A | 11 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(8): Show | 11 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.340-5417_340-5408d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859019
|
ATGTGTGT others(5): Show |
A | 2 | a0014c0013t0001g0056a0015c0012t0008g0001 | 2 | HG00323.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.340-5419_340-5408d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859019 | |||||
| chr1:185859128
|
T | TTG | 11 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(8): Show | 11 | HG02622.hp1 HG02723.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.340-5310_340-5309d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859128
|
T | TTGTG | 4 | a0001c0001t0001g0091a0001c0001t0002g0089a0001c0001t0002g0090others(1): Show | 4 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.340-5312_340-5309d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859128
|
T | TTGTGTG | 2 | a0026c0040t0003g0086a0047c0014t0001g0055 | 2 | HG02055.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.340-5314_340-5309d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859128
|
TTG | T | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.340-5310_340-5309d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859128
|
TTGTG | T | 4 | a0001c0001t0002g0004a0008c0009t0001g0084a0013c0011t0004g0057others(1): Show | 4 | HG01069.hp1 HG02258.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.340-5312_340-5309d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859128
|
TTGTGTGT others(5): Show |
T | 2 | a0001c0035t0001g0020a0037c0038t0001g0038 | 2 | HG01243.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.340-5320_340-5309d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185859128 | |||||
| chr1:185859433
|
T | C | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.340-5037T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859433 | ||||||
| chr1:185859495
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.340-4975G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859495 | ||||||
| chr1:185859498
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-4972C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859498 | ||||||
| chr1:185859737
|
T | C | 31 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(28): Show | 31 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.340-4733T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859737 | ||||||
| chr1:185859809
|
A | G | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001 | 3 | HG00323.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.340-4661A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859809 | ||||||
| chr1:185859891
|
G | A | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.340-4579G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859891 | ||||||
| chr1:185859940
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-4530G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185859940 | ||||||
| chr1:185860020
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.340-4450G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185860020 | ||||||
| chr1:185860447
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.340-4023C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185860447 | ||||||
| chr1:185860527
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-3943A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185860527 | ||||||
| chr1:185860568
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-3902C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185860568 | ||||||
| chr1:185860867
|
T | C | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001 | 3 | HG00323.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.340-3603T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185860867 | ||||||
| chr1:185861131
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-3339T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861131 | ||||||
| chr1:185861271
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-3199C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861271 | ||||||
| chr1:185861342
|
T | C | 21 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(18): Show | 21 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.340-3128T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861342 | ||||||
| chr1:185861611
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.340-2859A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861611 | ||||||
| chr1:185861613
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-2857C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861613 | ||||||
| chr1:185861656
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-2814A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185861656 | ||||||
| chr1:185862142
|
G | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.340-2328G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862142 | ||||||
| chr1:185862186
|
AAGAT | A | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.340-2280_340-2277d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | 185862186 | |||||
| chr1:185862411
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.340-2059G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862411 | ||||||
| chr1:185862461
|
C | T | 51 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(48): Show | 51 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.340-2009C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862461 | ||||||
| chr1:185862822
|
C | A | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.340-1648C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862822 | ||||||
| chr1:185862833
|
T | C | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.340-1637T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862833 | ||||||
| chr1:185862947
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-1523C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185862947 | ||||||
| chr1:185863809
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-661A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185863809 | ||||||
| chr1:185864061
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-409G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185864061 | ||||||
| chr1:185864230
|
T | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.340-240T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185864230 | ||||||
| chr1:185864230
|
T | C | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.340-240T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185864230 | ||||||
| chr1:185864345
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.340-125T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185864345 | ||||||
| chr1:185864433
|
A | C | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.340-37A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | chr1 | 185864433 | ||||||
| chr1:185864698
|
C | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.498+70C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185864698 | ||||||
| chr1:185864748
|
A | G | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.498+120A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185864748 | ||||||
| chr1:185864950
|
G | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.498+322G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185864950 | ||||||
| chr1:185865149
|
G | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.498+521G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185865149 | ||||||
| chr1:185865172
|
T | C | 3 | a0001c0001t0002g0004a0008c0009t0001g0084a0021c0057t0001g0019 | 3 | HG01069.hp1 HG02615.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.498+544T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185865172 | ||||||
| chr1:185865339
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.499-402A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185865339 | ||||||
| chr1:185865524
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.499-217C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | chr1 | 185865524 | ||||||
| chr1:185865582
|
T | TAC | 4 | a0001c0015t0001g0045a0002c0007t0006g0028a0003c0003t0001g0039others(1): Show | 4 | HG01192.hp1 HG02809.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.499-111_499-110dup others(2): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
T | TACAC | 3 | a0002c0004t0001g0050a0002c0004t0002g0023a0002c0004t0002g0024 | 3 | HG03540.hp2 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.499-113_499-110dup others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
T | TACACAC | 2 | a0001c0001t0002g0042a0007c0010t0001g0005 | 2 | HG01074.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.499-115_499-110dup others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TAC | T | 11 | a0001c0001t0001g0035a0001c0001t0001g0052a0002c0007t0002g0025others(8): Show | 11 | HG00323.hp2 HG01516.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.499-111_499-110del others(2): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACAC | T | 11 | a0001c0001t0001g0010a0001c0001t0002g0021a0001c0035t0001g0020others(8): Show | 11 | HG00639.hp1 HG00639.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.499-113_499-110del others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACAC | T | 4 | a0014c0013t0001g0056a0039c0033t0001g0076a0040c0034t0001g0031others(1): Show | 4 | HG02055.hp2 HG02572.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.499-115_499-110del others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(1): Show |
T | 5 | a0001c0001t0001g0082a0001c0001t0002g0004a0004c0002t0001g0072others(2): Show | 5 | HG02615.hp2 HG02698.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.499-117_499-110del others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(3): Show |
T | 27 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0083others(24): Show | 27 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(24): Show |
intron_variant | MODIFIER | c.499-119_499-110del others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(5): Show |
T | 2 | a0008c0009t0001g0084a0021c0057t0001g0019 | 2 | HG01069.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.499-121_499-110del others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(7): Show |
T | 2 | a0001c0001t0001g0087a0015c0012t0008g0001 | 2 | HG00323.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.499-123_499-110del others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(9): Show |
T | 5 | a0001c0001t0001g0091a0001c0001t0002g0089a0001c0001t0002g0090others(2): Show | 5 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.499-125_499-110del others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865582
|
TACACACA others(13): Show |
T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.499-129_499-110del others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865582 | |||||
| chr1:185865715
|
GTTTC | G | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.499-22_499-19delCT others(2): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865715 | |||||
| chr1:185865719
|
C | CT | 13 | a0001c0001t0001g0010a0001c0001t0001g0087a0001c0001t0001g0091others(10): Show | 13 | HG00639.hp1 HG00639.hp2 HG01891.hp2 others(10): Show |
splice_region_variant&intron_variant | LOW | c.499-9dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 3/106 | INFO_REALIGN_3_PRIME | chr1 | 185865719 | |||||
| chr1:185866019
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+156A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185866019 | ||||||
| chr1:185866290
|
GACTA | G | 5 | a0001c0001t0001g0035a0001c0001t0002g0032a0001c0035t0001g0020others(2): Show | 5 | HG00323.hp2 HG01069.hp2 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.621+432_621+435del others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866290 | |||||
| chr1:185866397
|
A | AT | 5 | a0003c0003t0001g0054a0009c0050t0002g0048a0010c0051t0001g0047others(2): Show | 5 | HG00735.hp2 HG02622.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.621+559dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866397 | |||||
| chr1:185866397
|
AT | A | 8 | a0001c0015t0001g0045a0004c0002t0001g0017a0005c0005t0003g0011others(5): Show | 8 | HG01192.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.621+559delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866397 | |||||
| chr1:185866397
|
ATT | A | 10 | a0001c0001t0002g0004a0002c0004t0001g0030a0004c0002t0001g0014others(7): Show | 10 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.621+558_621+559del others(2): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866397 | |||||
| chr1:185866397
|
ATTT | A | 11 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(8): Show | 11 | HG01891.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.621+557_621+559del others(3): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866397 | |||||
| chr1:185866397
|
ATTTTTTT others(4): Show |
A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.621+549_621+559del others(11): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185866397 | |||||
| chr1:185866436
|
G | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.621+573G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185866436 | ||||||
| chr1:185867117
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.621+1254G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867117 | ||||||
| chr1:185867149
|
A | G | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.621+1286A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867149 | ||||||
| chr1:185867213
|
C | G | 30 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(27): Show | 30 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.621+1350C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867213 | ||||||
| chr1:185867339
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+1476G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867339 | ||||||
| chr1:185867365
|
G | C | 31 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(28): Show | 31 | HG00323.hp1 HG00735.hp1 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.621+1502G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867365 | ||||||
| chr1:185867667
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+1804C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867667 | ||||||
| chr1:185867670
|
G | C | 51 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(48): Show | 51 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.621+1807G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867670 | ||||||
| chr1:185867685
|
A | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.621+1822A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867685 | ||||||
| chr1:185867750
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+1887T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867750 | ||||||
| chr1:185867813
|
G | A | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+1950G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185867813 | ||||||
| chr1:185868035
|
C | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.621+2172C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868035 | ||||||
| chr1:185868088
|
C | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+2225C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868088 | ||||||
| chr1:185868093
|
T | G | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.621+2230T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868093 | ||||||
| chr1:185868191
|
T | C | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.621+2328T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868191 | ||||||
| chr1:185868334
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+2471C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868334 | ||||||
| chr1:185868335
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+2472G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868335 | ||||||
| chr1:185868619
|
A | G | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.621+2756A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868619 | ||||||
| chr1:185868673
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+2810G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868673 | ||||||
| chr1:185868913
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+3050T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185868913 | ||||||
| chr1:185869070
|
T | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+3207T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869070 | ||||||
| chr1:185869089
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.621+3226A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869089 | ||||||
| chr1:185869164
|
T | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+3301T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869164 | ||||||
| chr1:185869694
|
A | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+3831A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869694 | ||||||
| chr1:185869768
|
C | T | 11 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(8): Show | 11 | HG00323.hp1 HG01891.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.621+3905C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869768 | ||||||
| chr1:185869779
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+3916C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869779 | ||||||
| chr1:185869837
|
C | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.621+3974C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185869837 | ||||||
| chr1:185870021
|
G | GT | 4 | a0014c0013t0001g0056a0015c0012t0008g0001a0021c0057t0001g0019others(1): Show | 4 | HG00323.hp1 HG02055.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+4173dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185870021 | |||||
| chr1:185870035
|
T | A | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.621+4172T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870035 | ||||||
| chr1:185870036
|
T | A | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+4173T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870036 | ||||||
| chr1:185870037
|
A | T | 4 | a0001c0001t0002g0089a0001c0001t0002g0090a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG01891.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.621+4174A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870037 | ||||||
| chr1:185870104
|
C | T | 3 | a0004c0002t0001g0014a0004c0002t0001g0072a0020c0055t0001g0013 | 3 | HG02451.hp2 HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.621+4241C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870104 | ||||||
| chr1:185870121
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+4258T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870121 | ||||||
| chr1:185870378
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.621+4515C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870378 | ||||||
| chr1:185870508
|
T | C | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.621+4645T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870508 | ||||||
| chr1:185870522
|
T | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+4659T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870522 | ||||||
| chr1:185870881
|
T | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+5018T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870881 | ||||||
| chr1:185870883
|
C | G | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+5020C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185870883 | ||||||
| chr1:185871151
|
G | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.621+5288G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185871151 | ||||||
| chr1:185871220
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.621+5357C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185871220 | ||||||
| chr1:185871228
|
C | CA | 4 | a0002c0004t0001g0050a0009c0050t0002g0048a0031c0023t0001g0074others(1): Show | 4 | HG00735.hp1 HG02055.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.621+5383dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185871228 | |||||
| chr1:185871228
|
CA | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02976.hp2 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.621+5383delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185871228 | |||||
| chr1:185871664
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+5801C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185871664 | ||||||
| chr1:185871747
|
TAAAAA | T | 7 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(4): Show | 7 | HG01891.hp2 HG02258.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.621+5888_621+5892d others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185871747 | |||||
| chr1:185872092
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+6229T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872092 | ||||||
| chr1:185872157
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+6294G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872157 | ||||||
| chr1:185872167
|
C | T | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG00323.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.621+6304C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872167 | ||||||
| chr1:185872173
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+6310A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872173 | ||||||
| chr1:185872247
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+6384C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872247 | ||||||
| chr1:185872492
|
A | G | 11 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(8): Show | 11 | HG00323.hp1 HG01891.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.621+6629A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872492 | ||||||
| chr1:185872948
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+7085A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185872948 | ||||||
| chr1:185873309
|
C | A | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.621+7446C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185873309 | ||||||
| chr1:185873599
|
A | G | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.621+7736A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185873599 | ||||||
| chr1:185873696
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+7833T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185873696 | ||||||
| chr1:185873704
|
T | G | 1 | a0002c0004t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.621+7841T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185873704 | ||||||
| chr1:185874203
|
TC | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+8341delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874203 | ||||||
| chr1:185874284
|
G | A | 6 | a0001c0001t0001g0010a0027c0019t0001g0008a0033c0029t0001g0009others(3): Show | 6 | HG00639.hp1 HG00639.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+8421G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874284 | ||||||
| chr1:185874567
|
T | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.621+8704T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874567 | ||||||
| chr1:185874668
|
A | T | 3 | a0001c0001t0002g0004a0008c0009t0001g0084a0021c0057t0001g0019 | 3 | HG01069.hp1 HG02615.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.621+8805A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874668 | ||||||
| chr1:185874726
|
T | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+8863T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874726 | ||||||
| chr1:185874786
|
T | C | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.621+8923T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874786 | ||||||
| chr1:185874919
|
C | A | 1 | a0003c0003t0001g0054 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.621+9056C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185874919 | ||||||
| chr1:185875411
|
C | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+9548C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185875411 | ||||||
| chr1:185875508
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.621+9645G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185875508 | ||||||
| chr1:185876042
|
T | C | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.621+10179T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185876042 | ||||||
| chr1:185876275
|
A | G | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+10412A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185876275 | ||||||
| chr1:185876541
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+10678G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185876541 | ||||||
| chr1:185876730
|
A | G | 8 | a0001c0001t0001g0075a0003c0003t0001g0063a0006c0006t0005g0080others(5): Show | 8 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.621+10867A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185876730 | ||||||
| chr1:185876773
|
G | A | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+10910G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185876773 | ||||||
| chr1:185877047
|
C | T | 10 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(7): Show | 10 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.621+11184C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877047 | ||||||
| chr1:185877103
|
G | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.621+11240G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877103 | ||||||
| chr1:185877156
|
CTAAA | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+11296_621+1129 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877156 | |||||
| chr1:185877317
|
CTTTCTTT others(13): Show |
C | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+11458_621+1147 others(24): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877317 | |||||
| chr1:185877321
|
C | CT | 6 | a0002c0004t0001g0050a0003c0003t0001g0063a0005c0005t0003g0011others(3): Show | 6 | HG02055.hp1 HG02486.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+11488dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877321 | |||||
| chr1:185877321
|
CT | C | 40 | a0001c0001t0001g0035a0001c0001t0001g0082a0001c0001t0001g0083others(37): Show | 40 | HG00323.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.621+11488delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877321 | |||||
| chr1:185877321
|
CTTTTT | C | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+11484_621+1148 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877321 | |||||
| chr1:185877321
|
CTTTTTTT others(3): Show |
C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+11479_621+1148 others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185877321 | |||||
| chr1:185877479
|
T | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+11616T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877479 | ||||||
| chr1:185877485
|
T | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.621+11622T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877485 | ||||||
| chr1:185877548
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+11685C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877548 | ||||||
| chr1:185877711
|
C | A | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.621+11848C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185877711 | ||||||
| chr1:185878073
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+12210A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878073 | ||||||
| chr1:185878336
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+12473C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878336 | ||||||
| chr1:185878501
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+12638A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878501 | ||||||
| chr1:185878705
|
CTCTA | C | 3 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0027t0002g0088 | 3 | HG01891.hp2 HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.621+12847_621+1285 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185878705 | |||||
| chr1:185878725
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.621+12862C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878725 | ||||||
| chr1:185878731
|
C | A | 4 | a0001c0001t0001g0078a0001c0001t0001g0083a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp2 HG02280.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+12868C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878731 | ||||||
| chr1:185878853
|
A | C | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.621+12990A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878853 | ||||||
| chr1:185878892
|
G | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+13029G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185878892 | ||||||
| chr1:185879087
|
A | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.621+13224A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879087 | ||||||
| chr1:185879107
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.621+13244A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879107 | ||||||
| chr1:185879295
|
T | TGAGTAGT others(2): Show |
6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+13434_621+1344 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185879295 | |||||
| chr1:185879347
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+13484T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879347 | ||||||
| chr1:185879470
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+13607C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879470 | ||||||
| chr1:185879480
|
C | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.621+13617C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879480 | ||||||
| chr1:185879812
|
A | G | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.621+13949A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879812 | ||||||
| chr1:185879847
|
T | A | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.621+13984T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185879847 | ||||||
| chr1:185880227
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+14364G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185880227 | ||||||
| chr1:185880232
|
G | A | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.621+14369G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185880232 | ||||||
| chr1:185880613
|
C | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.621+14750C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185880613 | ||||||
| chr1:185880667
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+14804G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185880667 | ||||||
| chr1:185880972
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.621+15109T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185880972 | ||||||
| chr1:185881122
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+15259T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881122 | ||||||
| chr1:185881183
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+15320A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881183 | ||||||
| chr1:185881342
|
C | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+15479C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881342 | ||||||
| chr1:185881509
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+15646C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881509 | ||||||
| chr1:185881510
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+15647G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881510 | ||||||
| chr1:185881515
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+15652A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881515 | ||||||
| chr1:185881561
|
A | C | 2 | a0004c0002t0001g0014a0004c0002t0001g0072 | 2 | HG02886.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.621+15698A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881561 | ||||||
| chr1:185881963
|
A | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+16100A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185881963 | ||||||
| chr1:185882350
|
G | GT | 44 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(41): Show | 44 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(41): Show |
intron_variant | MODIFIER | c.621+16500dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185882350 | |||||
| chr1:185882350
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+16487G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185882350 | ||||||
| chr1:185882351
|
T | G | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.621+16488T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185882351 | ||||||
| chr1:185882519
|
T | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+16656T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185882519 | ||||||
| chr1:185882879
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+17016G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185882879 | ||||||
| chr1:185882933
|
C | T | 2 | a0001c0001t0001g0075a0031c0023t0001g0074 | 2 | HG00735.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.621+17070C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185882933 | ||||||
| chr1:185883067
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+17204C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185883067 | ||||||
| chr1:185883092
|
A | C | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.621+17229A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185883092 | ||||||
| chr1:185883420
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+17557C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185883420 | ||||||
| chr1:185883773
|
C | T | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+17910C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185883773 | ||||||
| chr1:185883879
|
A | AT | 12 | a0002c0004t0001g0050a0002c0004t0002g0024a0002c0007t0002g0025others(9): Show | 12 | HG01243.hp1 HG01516.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.621+18042dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185883879 | |||||
| chr1:185883879
|
AT | A | 12 | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0002g0032others(9): Show | 12 | HG00323.hp2 HG01069.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.621+18042delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185883879 | |||||
| chr1:185883879
|
ATTT | A | 8 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(5): Show | 8 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.621+18040_621+1804 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185883879 | |||||
| chr1:185883879
|
ATTTTT | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.621+18038_621+1804 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185883879 | |||||
| chr1:185883954
|
A | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+18091A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185883954 | ||||||
| chr1:185884246
|
A | T | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.621+18383A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884246 | ||||||
| chr1:185884322
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+18459C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884322 | ||||||
| chr1:185884369
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+18506A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884369 | ||||||
| chr1:185884376
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.621+18513C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884376 | ||||||
| chr1:185884488
|
C | A | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.621+18625C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884488 | ||||||
| chr1:185884497
|
G | A | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.621+18634G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884497 | ||||||
| chr1:185884587
|
T | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.621+18724T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884587 | ||||||
| chr1:185884611
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+18748C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884611 | ||||||
| chr1:185884722
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+18859G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884722 | ||||||
| chr1:185884775
|
C | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+18912C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884775 | ||||||
| chr1:185884828
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+18965C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884828 | ||||||
| chr1:185884869
|
G | A | 4 | a0002c0004t0001g0030a0002c0007t0002g0029a0002c0007t0006g0028others(1): Show | 4 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.621+19006G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884869 | ||||||
| chr1:185884875
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19012A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884875 | ||||||
| chr1:185884964
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19101C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185884964 | ||||||
| chr1:185885024
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19161T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885024 | ||||||
| chr1:185885073
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19210C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885073 | ||||||
| chr1:185885085
|
G | GT | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.621+19232dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185885085 | |||||
| chr1:185885139
|
G | A | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.621+19276G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885139 | ||||||
| chr1:185885282
|
C | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+19419C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885282 | ||||||
| chr1:185885530
|
C | CT | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19671dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185885530 | |||||
| chr1:185885675
|
A | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+19812A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885675 | ||||||
| chr1:185885682
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+19819T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885682 | ||||||
| chr1:185885968
|
C | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.621+20105C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185885968 | ||||||
| chr1:185886017
|
A | G | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.621+20154A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886017 | ||||||
| chr1:185886157
|
T | C | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.621+20294T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886157 | ||||||
| chr1:185886215
|
GA | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+20363delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185886215 | |||||
| chr1:185886542
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+20679G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886542 | ||||||
| chr1:185886682
|
A | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.621+20819A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886682 | ||||||
| chr1:185886685
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+20822A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886685 | ||||||
| chr1:185886704
|
C | A | 8 | a0001c0001t0001g0075a0003c0003t0001g0063a0006c0006t0005g0080others(5): Show | 8 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.621+20841C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886704 | ||||||
| chr1:185886724
|
T | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+20861T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886724 | ||||||
| chr1:185886754
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+20891T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886754 | ||||||
| chr1:185886928
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+21065C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185886928 | ||||||
| chr1:185887056
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+21193C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887056 | ||||||
| chr1:185887099
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.621+21236T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887099 | ||||||
| chr1:185887118
|
G | A | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.621+21255G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887118 | ||||||
| chr1:185887310
|
A | G | 1 | a0023c0048t0002g0026 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.621+21447A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887310 | ||||||
| chr1:185887361
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.621+21498G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887361 | ||||||
| chr1:185887363
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+21500T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887363 | ||||||
| chr1:185887390
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.621+21527C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887390 | ||||||
| chr1:185887400
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.621+21537G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887400 | ||||||
| chr1:185887456
|
C | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+21593C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887456 | ||||||
| chr1:185887457
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+21594C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887457 | ||||||
| chr1:185887497
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+21634C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887497 | ||||||
| chr1:185887577
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.621+21714G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887577 | ||||||
| chr1:185887593
|
C | T | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.621+21730C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887593 | ||||||
| chr1:185887640
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-21697T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887640 | ||||||
| chr1:185887652
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21685A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887652 | ||||||
| chr1:185887663
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-21674T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887663 | ||||||
| chr1:185887705
|
C | A | 5 | a0001c0001t0002g0004a0008c0009t0001g0084a0018c0046t0001g0059others(2): Show | 5 | HG01069.hp1 HG02055.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.622-21632C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887705 | ||||||
| chr1:185887788
|
A | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21549A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887788 | ||||||
| chr1:185887872
|
C | G | 8 | a0001c0001t0001g0075a0003c0003t0001g0063a0006c0006t0005g0080others(5): Show | 8 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.622-21465C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887872 | ||||||
| chr1:185887872
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21465C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887872 | ||||||
| chr1:185887966
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21371C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887966 | ||||||
| chr1:185887967
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21370C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887967 | ||||||
| chr1:185887976
|
C | T | 18 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(15): Show | 18 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.622-21361C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887976 | ||||||
| chr1:185887993
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-21344T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185887993 | ||||||
| chr1:185888025
|
T | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-21312T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888025 | ||||||
| chr1:185888134
|
C | T | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.622-21203C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888134 | ||||||
| chr1:185888166
|
TC | T | 3 | a0004c0002t0001g0015a0004c0002t0001g0016a0004c0002t0001g0036 | 3 | HG01099.hp2 HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.622-21170delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888166 | ||||||
| chr1:185888209
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21128C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888209 | ||||||
| chr1:185888232
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-21105C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888232 | ||||||
| chr1:185888233
|
G | A | 18 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(15): Show | 18 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.622-21104G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888233 | ||||||
| chr1:185888357
|
G | T | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-20980G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888357 | ||||||
| chr1:185888364
|
T | C | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.622-20973T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888364 | ||||||
| chr1:185888365
|
A | G | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-20972A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888365 | ||||||
| chr1:185888388
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20949G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888388 | ||||||
| chr1:185888421
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-20916T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888421 | ||||||
| chr1:185888448
|
T | C | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.622-20889T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888448 | ||||||
| chr1:185888476
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20861A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888476 | ||||||
| chr1:185888496
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20841G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888496 | ||||||
| chr1:185888523
|
A | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20814A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888523 | ||||||
| chr1:185888560
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20777G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888560 | ||||||
| chr1:185888612
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20725T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888612 | ||||||
| chr1:185888626
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-20711C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888626 | ||||||
| chr1:185888651
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20686G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888651 | ||||||
| chr1:185888661
|
G | C | 3 | a0004c0002t0001g0015a0004c0002t0001g0016a0004c0002t0001g0036 | 3 | HG01099.hp2 HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.622-20676G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888661 | ||||||
| chr1:185888668
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20669C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888668 | ||||||
| chr1:185888685
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-20652A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888685 | ||||||
| chr1:185888769
|
T | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-20568T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888769 | ||||||
| chr1:185888835
|
A | G | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.622-20502A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888835 | ||||||
| chr1:185888852
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20485A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888852 | ||||||
| chr1:185888896
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-20441A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888896 | ||||||
| chr1:185888916
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.622-20421C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888916 | ||||||
| chr1:185888968
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20369G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888968 | ||||||
| chr1:185888992
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-20345C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888992 | ||||||
| chr1:185888998
|
G | T | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20339G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185888998 | ||||||
| chr1:185889040
|
G | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-20297G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889040 | ||||||
| chr1:185889084
|
G | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-20253G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889084 | ||||||
| chr1:185889122
|
G | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-20215G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889122 | ||||||
| chr1:185889202
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20135A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889202 | ||||||
| chr1:185889205
|
T | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-20132T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889205 | ||||||
| chr1:185889217
|
G | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.622-20120G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889217 | ||||||
| chr1:185889218
|
A | G | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.622-20119A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889218 | ||||||
| chr1:185889409
|
C | T | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-19928C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889409 | ||||||
| chr1:185889411
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19926G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889411 | ||||||
| chr1:185889426
|
G | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-19911G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889426 | ||||||
| chr1:185889434
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-19903C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889434 | ||||||
| chr1:185889482
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.622-19855G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889482 | ||||||
| chr1:185889482
|
G | C | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.622-19855G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889482 | ||||||
| chr1:185889489
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-19848T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889489 | ||||||
| chr1:185889553
|
A | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19784A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889553 | ||||||
| chr1:185889730
|
T | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.622-19607T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889730 | ||||||
| chr1:185889741
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19596C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889741 | ||||||
| chr1:185889744
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19593T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889744 | ||||||
| chr1:185889836
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19501G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889836 | ||||||
| chr1:185889941
|
T | G | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.622-19396T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889941 | ||||||
| chr1:185889945
|
A | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19392A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185889945 | ||||||
| chr1:185890002
|
T | C | 18 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(15): Show | 18 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(15): Show |
intron_variant | MODIFIER | c.622-19335T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890002 | ||||||
| chr1:185890148
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19189G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890148 | ||||||
| chr1:185890190
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19147G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890190 | ||||||
| chr1:185890199
|
CTTTT | C | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.622-19134_622-1913 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185890199 | |||||
| chr1:185890225
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19112C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890225 | ||||||
| chr1:185890226
|
G | A | 2 | a0001c0001t0002g0042a0012c0016t0001g0044 | 2 | HG01074.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.622-19111G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890226 | ||||||
| chr1:185890240
|
C | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-19097C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890240 | ||||||
| chr1:185890273
|
A | T | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-19064A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890273 | ||||||
| chr1:185890287
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19050A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890287 | ||||||
| chr1:185890303
|
A | T | 21 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(18): Show | 21 | HG01099.hp2 HG01192.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.622-19034A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890303 | ||||||
| chr1:185890332
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-19005G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890332 | ||||||
| chr1:185890352
|
G | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-18985G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890352 | ||||||
| chr1:185890363
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18974G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890363 | ||||||
| chr1:185890368
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18969T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890368 | ||||||
| chr1:185890383
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18954G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890383 | ||||||
| chr1:185890392
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18945G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890392 | ||||||
| chr1:185890522
|
G | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-18815G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890522 | ||||||
| chr1:185890617
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-18720G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890617 | ||||||
| chr1:185890742
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18595A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890742 | ||||||
| chr1:185890797
|
G | A | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.622-18540G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890797 | ||||||
| chr1:185890801
|
G | A | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.622-18536G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890801 | ||||||
| chr1:185890882
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-18455C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890882 | ||||||
| chr1:185890942
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-18395G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890942 | ||||||
| chr1:185890963
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18374A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185890963 | ||||||
| chr1:185891009
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18328T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891009 | ||||||
| chr1:185891128
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18209T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891128 | ||||||
| chr1:185891196
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-18141T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891196 | ||||||
| chr1:185891204
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-18133T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891204 | ||||||
| chr1:185891208
|
A | T | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.622-18129A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891208 | ||||||
| chr1:185891224
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-18113T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891224 | ||||||
| chr1:185891234
|
C | A | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.622-18103C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891234 | ||||||
| chr1:185891257
|
C | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-18080C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891257 | ||||||
| chr1:185891266
|
A | G | 7 | a0011c0008t0001g0069a0011c0008t0001g0070a0013c0011t0004g0057others(4): Show | 7 | HG01192.hp2 HG02258.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.622-18071A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891266 | ||||||
| chr1:185891273
|
A | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-18064A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891273 | ||||||
| chr1:185891274
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-18063G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891274 | ||||||
| chr1:185891399
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17938G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891399 | ||||||
| chr1:185891400
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17937C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891400 | ||||||
| chr1:185891407
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17930C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891407 | ||||||
| chr1:185891412
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17925T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891412 | ||||||
| chr1:185891440
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-17897C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891440 | ||||||
| chr1:185891450
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-17887C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891450 | ||||||
| chr1:185891452
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.622-17885G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891452 | ||||||
| chr1:185891462
|
T | TC | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17874dupC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185891462 | |||||
| chr1:185891472
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17865T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891472 | ||||||
| chr1:185891496
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-17841G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891496 | ||||||
| chr1:185891508
|
C | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(12): Show | 15 | HG01069.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.622-17829C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891508 | ||||||
| chr1:185891550
|
A | T | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-17787A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891550 | ||||||
| chr1:185891624
|
A | T | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.622-17713A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891624 | ||||||
| chr1:185891646
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-17691T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891646 | ||||||
| chr1:185891679
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.622-17658C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891679 | ||||||
| chr1:185891777
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17560C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891777 | ||||||
| chr1:185891831
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17506C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891831 | ||||||
| chr1:185891884
|
A | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-17453A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891884 | ||||||
| chr1:185891893
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-17444C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891893 | ||||||
| chr1:185891902
|
C | G | 17 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(14): Show | 17 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.622-17435C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891902 | ||||||
| chr1:185891931
|
A | G | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-17406A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891931 | ||||||
| chr1:185891939
|
T | C | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-17398T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891939 | ||||||
| chr1:185891956
|
T | C | 29 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(26): Show | 29 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.622-17381T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185891956 | ||||||
| chr1:185892098
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17239T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892098 | ||||||
| chr1:185892106
|
G | C | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.622-17231G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892106 | ||||||
| chr1:185892131
|
G | A | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.622-17206G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892131 | ||||||
| chr1:185892140
|
G | C | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17197G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892140 | ||||||
| chr1:185892148
|
G | A | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.622-17189G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892148 | ||||||
| chr1:185892174
|
G | A | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.622-17163G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892174 | ||||||
| chr1:185892178
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17159C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892178 | ||||||
| chr1:185892205
|
C | T | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.622-17132C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892205 | ||||||
| chr1:185892224
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17113T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892224 | ||||||
| chr1:185892249
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-17088G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892249 | ||||||
| chr1:185892312
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-17025A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892312 | ||||||
| chr1:185892375
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-16962A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892375 | ||||||
| chr1:185892390
|
A | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16947A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892390 | ||||||
| chr1:185892415
|
T | C | 18 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(15): Show | 18 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.622-16922T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892415 | ||||||
| chr1:185892532
|
C | G | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.622-16805C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892532 | ||||||
| chr1:185892580
|
T | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16757T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892580 | ||||||
| chr1:185892589
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16748C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892589 | ||||||
| chr1:185892593
|
G | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-16744G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892593 | ||||||
| chr1:185892685
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16652C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892685 | ||||||
| chr1:185892686
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16651C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892686 | ||||||
| chr1:185892688
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16649A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892688 | ||||||
| chr1:185892755
|
C | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.622-16582C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892755 | ||||||
| chr1:185892807
|
G | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16530G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892807 | ||||||
| chr1:185892873
|
C | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-16464C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892873 | ||||||
| chr1:185892873
|
C | T | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.622-16464C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892873 | ||||||
| chr1:185892893
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-16444G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892893 | ||||||
| chr1:185892907
|
A | G | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.622-16430A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892907 | ||||||
| chr1:185892918
|
C | T | 21 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(18): Show | 21 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.622-16419C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892918 | ||||||
| chr1:185892959
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16378C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892959 | ||||||
| chr1:185892983
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16354C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892983 | ||||||
| chr1:185892984
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16353C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892984 | ||||||
| chr1:185892985
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16352A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185892985 | ||||||
| chr1:185893034
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16303C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893034 | ||||||
| chr1:185893043
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16294G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893043 | ||||||
| chr1:185893047
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-16290T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893047 | ||||||
| chr1:185893057
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16280C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893057 | ||||||
| chr1:185893058
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-16279A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893058 | ||||||
| chr1:185893156
|
G | T | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.622-16181G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893156 | ||||||
| chr1:185893171
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16166A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893171 | ||||||
| chr1:185893172
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.622-16165C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893172 | ||||||
| chr1:185893235
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-16102G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893235 | ||||||
| chr1:185893246
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-16091T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893246 | ||||||
| chr1:185893277
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-16060T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893277 | ||||||
| chr1:185893415
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15922T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893415 | ||||||
| chr1:185893418
|
G | A | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.622-15919G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893418 | ||||||
| chr1:185893593
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-15744A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893593 | ||||||
| chr1:185893698
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15639T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893698 | ||||||
| chr1:185893777
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15560A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893777 | ||||||
| chr1:185893836
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15501C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893836 | ||||||
| chr1:185893878
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15459A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893878 | ||||||
| chr1:185893897
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.622-15440C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893897 | ||||||
| chr1:185893980
|
A | G | 9 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | HG01891.hp2 HG02258.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.622-15357A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893980 | ||||||
| chr1:185893983
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15354A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185893983 | ||||||
| chr1:185894008
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15329C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894008 | ||||||
| chr1:185894026
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15311T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894026 | ||||||
| chr1:185894052
|
G | A | 1 | a0012c0017t0001g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.622-15285G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894052 | ||||||
| chr1:185894056
|
AC | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15278delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894056 | |||||
| chr1:185894137
|
AAAAAAC | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-15182_622-1517 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894137 | |||||
| chr1:185894150
|
AAAAACAA others(7): Show |
A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-15174_622-1516 others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894150 | |||||
| chr1:185894155
|
CA | C | 7 | a0011c0008t0001g0069a0011c0008t0001g0070a0013c0011t0004g0057others(4): Show | 7 | HG01192.hp2 HG02258.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.622-15174delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894155 | |||||
| chr1:185894199
|
CAT | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15136_622-1513 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894199 | |||||
| chr1:185894259
|
T | C | 1 | a0006c0006t0001g0049 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.622-15078T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894259 | ||||||
| chr1:185894300
|
GC | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-15035delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185894300 | |||||
| chr1:185894505
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-14832T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894505 | ||||||
| chr1:185894603
|
T | C | 52 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(49): Show | 52 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.622-14734T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894603 | ||||||
| chr1:185894604
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-14733G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894604 | ||||||
| chr1:185894700
|
G | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-14637G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894700 | ||||||
| chr1:185894983
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-14354T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894983 | ||||||
| chr1:185894993
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-14344A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185894993 | ||||||
| chr1:185895020
|
C | CA | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-14317_622-1431 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895020 | ||||||
| chr1:185895023
|
G | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-14314G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895023 | ||||||
| chr1:185895108
|
G | GT | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(75): Show | 78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.622-14227dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185895108 | |||||
| chr1:185895295
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.622-14042C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895295 | ||||||
| chr1:185895380
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-13957A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895380 | ||||||
| chr1:185895712
|
C | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13625C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895712 | ||||||
| chr1:185895734
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-13603T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895734 | ||||||
| chr1:185895774
|
C | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.622-13563C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895774 | ||||||
| chr1:185895835
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13502C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895835 | ||||||
| chr1:185895875
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.622-13462T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895875 | ||||||
| chr1:185895883
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13454C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895883 | ||||||
| chr1:185895942
|
A | AT | 20 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(17): Show | 20 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(17): Show |
intron_variant | MODIFIER | c.622-13382dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185895942 | |||||
| chr1:185895942
|
A | ATT | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13383_622-1338 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185895942 | |||||
| chr1:185895984
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13353A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185895984 | ||||||
| chr1:185896029
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-13308A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896029 | ||||||
| chr1:185896035
|
G | A | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.622-13302G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896035 | ||||||
| chr1:185896080
|
C | T | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.622-13257C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896080 | ||||||
| chr1:185896122
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.622-13215G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896122 | ||||||
| chr1:185896389
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-12948A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896389 | ||||||
| chr1:185896415
|
T | TCA | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-12920_622-1291 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185896415 | |||||
| chr1:185896418
|
C | CAT | 38 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(35): Show | 38 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.622-12919_622-1291 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896418 | ||||||
| chr1:185896419
|
G | A | 18 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(15): Show | 18 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(15): Show |
intron_variant | MODIFIER | c.622-12918G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896419 | ||||||
| chr1:185896421
|
G | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-12916G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896421 | ||||||
| chr1:185896477
|
G | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-12860G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896477 | ||||||
| chr1:185896583
|
G | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-12754G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896583 | ||||||
| chr1:185896634
|
G | A | 11 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(8): Show | 11 | HG01069.hp1 HG01099.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-12703G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896634 | ||||||
| chr1:185896775
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-12562G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896775 | ||||||
| chr1:185896798
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-12539C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896798 | ||||||
| chr1:185896799
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-12538G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896799 | ||||||
| chr1:185896965
|
A | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-12372A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896965 | ||||||
| chr1:185896992
|
C | T | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.622-12345C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185896992 | ||||||
| chr1:185897106
|
T | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-12231T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897106 | ||||||
| chr1:185897214
|
C | T | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.622-12123C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897214 | ||||||
| chr1:185897311
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-12026A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897311 | ||||||
| chr1:185897361
|
A | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-11976A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897361 | ||||||
| chr1:185897399
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-11938A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897399 | ||||||
| chr1:185897600
|
C | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.622-11737C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897600 | ||||||
| chr1:185897712
|
G | A | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.622-11625G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897712 | ||||||
| chr1:185897835
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-11502T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185897835 | ||||||
| chr1:185898004
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-11333A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898004 | ||||||
| chr1:185898187
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-11150T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898187 | ||||||
| chr1:185898343
|
C | G | 2 | a0001c0001t0002g0004a0008c0009t0001g0084 | 2 | HG01069.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.622-10994C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898343 | ||||||
| chr1:185898448
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.622-10889T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898448 | ||||||
| chr1:185898470
|
C | CT | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-10858dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185898470 | |||||
| chr1:185898543
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-10794A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898543 | ||||||
| chr1:185898830
|
C | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.622-10507C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898830 | ||||||
| chr1:185898885
|
T | TA | 32 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(29): Show | 32 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.622-10438dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185898885 | |||||
| chr1:185898977
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-10360A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185898977 | ||||||
| chr1:185899034
|
C | T | 1 | a0005c0005t0003g0011 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.622-10303C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899034 | ||||||
| chr1:185899094
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-10243G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899094 | ||||||
| chr1:185899198
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-10139C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899198 | ||||||
| chr1:185899368
|
C | T | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.622-9969C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899368 | ||||||
| chr1:185899383
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.622-9954C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899383 | ||||||
| chr1:185899693
|
C | CA | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-9642dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185899693 | |||||
| chr1:185899903
|
C | T | 1 | a0002c0007t0002g0025 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.622-9434C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185899903 | ||||||
| chr1:185900050
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-9287A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900050 | ||||||
| chr1:185900074
|
T | C | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-9263T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900074 | ||||||
| chr1:185900138
|
A | G | 9 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(6): Show | 9 | HG02622.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.622-9199A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900138 | ||||||
| chr1:185900140
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.622-9197G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900140 | ||||||
| chr1:185900432
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-8905A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900432 | ||||||
| chr1:185900645
|
C | A | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-8692C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900645 | ||||||
| chr1:185900674
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-8663A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900674 | ||||||
| chr1:185900764
|
T | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-8573T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185900764 | ||||||
| chr1:185901118
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.622-8219G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901118 | ||||||
| chr1:185901176
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-8161C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901176 | ||||||
| chr1:185901423
|
A | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-7914A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901423 | ||||||
| chr1:185901521
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.622-7816G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901521 | ||||||
| chr1:185901819
|
C | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-7518C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901819 | ||||||
| chr1:185901825
|
G | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-7512G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185901825 | ||||||
| chr1:185902124
|
A | T | 12 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(9): Show | 12 | HG01069.hp1 HG01099.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.622-7213A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185902124 | ||||||
| chr1:185902303
|
T | C | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-7034T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185902303 | ||||||
| chr1:185902379
|
C | CTCTA | 7 | a0001c0001t0002g0004a0004c0002t0001g0015a0004c0002t0001g0016others(4): Show | 7 | HG01069.hp1 HG01099.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.622-6934_622-6931d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902379 | |||||
| chr1:185902391
|
ATCTATCT others(7): Show |
A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-6930_622-6917d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902391 | |||||
| chr1:185902395
|
ATCTATCT others(3): Show |
A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.622-6930_622-6921d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902395 | |||||
| chr1:185902403
|
A | C | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.622-6934A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185902403 | ||||||
| chr1:185902405
|
C | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.622-6932C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185902405 | ||||||
| chr1:185902405
|
C | CTATCTAT others(9): Show |
1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-6931_622-6930i others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902405 | |||||
| chr1:185902405
|
C | CTATCTCT others(1): Show |
4 | a0004c0002t0001g0014a0004c0002t0001g0017a0020c0055t0001g0013others(1): Show | 4 | HG02451.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.622-6931_622-6930i others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902405 | |||||
| chr1:185902405
|
C | CTCTA | 8 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(5): Show | 8 | HG01099.hp1 HG01516.hp2 HG02040.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-6887_622-6884d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902405 | |||||
| chr1:185902405
|
CTCTA | C | 11 | a0002c0004t0001g0050a0002c0004t0002g0023a0002c0007t0002g0029others(8): Show | 11 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-6887_622-6884d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902405 | |||||
| chr1:185902405
|
CTCTATCT others(13): Show |
C | 11 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(8): Show | 11 | HG01192.hp2 HG01891.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-6903_622-6884d others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902405 | |||||
| chr1:185902423
|
CTA | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.622-6912_622-6911d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185902423 | |||||
| chr1:185902558
|
T | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.622-6779T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185902558 | ||||||
| chr1:185903002
|
T | C | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.622-6335T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903002 | ||||||
| chr1:185903125
|
A | T | 33 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.622-6212A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903125 | ||||||
| chr1:185903289
|
A | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-6048A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903289 | ||||||
| chr1:185903301
|
T | C | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.622-6036T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903301 | ||||||
| chr1:185903691
|
A | T | 61 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(58): Show | 61 | HG00323.hp1 HG00735.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.622-5646A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903691 | ||||||
| chr1:185903817
|
A | T | 11 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(8): Show | 11 | HG01069.hp1 HG01099.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-5520A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185903817 | ||||||
| chr1:185904492
|
T | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-4845T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185904492 | ||||||
| chr1:185904573
|
T | C | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.622-4764T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185904573 | ||||||
| chr1:185904692
|
A | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-4645A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185904692 | ||||||
| chr1:185905167
|
A | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-4170A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185905167 | ||||||
| chr1:185905190
|
A | T | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.622-4147A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185905190 | ||||||
| chr1:185905324
|
T | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.622-4013T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185905324 | ||||||
| chr1:185905611
|
T | C | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-3726T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185905611 | ||||||
| chr1:185906043
|
A | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.622-3294A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906043 | ||||||
| chr1:185906238
|
T | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.622-3099T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906238 | ||||||
| chr1:185906542
|
C | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-2795C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906542 | ||||||
| chr1:185906608
|
G | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-2729G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906608 | ||||||
| chr1:185906654
|
G | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-2683G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906654 | ||||||
| chr1:185906720
|
A | G | 8 | a0008c0009t0002g0085a0011c0008t0001g0069a0011c0008t0001g0070others(5): Show | 8 | HG01192.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-2617A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906720 | ||||||
| chr1:185906726
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-2611C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906726 | ||||||
| chr1:185906806
|
T | C | 1 | a0009c0050t0002g0048 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.622-2531T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185906806 | ||||||
| chr1:185906951
|
A | AT | 10 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(7): Show | 10 | HG01099.hp2 HG02280.hp2 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.622-2367dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185906951 | |||||
| chr1:185906951
|
ATTTTT | A | 12 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(9): Show | 12 | HG01192.hp2 HG01891.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.622-2371_622-2367d others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185906951 | |||||
| chr1:185907037
|
G | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-2300G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907037 | ||||||
| chr1:185907097
|
C | T | 2 | a0008c0009t0002g0085a0015c0012t0008g0001 | 2 | HG00323.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.622-2240C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907097 | ||||||
| chr1:185907098
|
G | A | 7 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0007t0002g0025others(4): Show | 7 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.622-2239G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907098 | ||||||
| chr1:185907207
|
C | T | 11 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(8): Show | 11 | HG01069.hp1 HG01099.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-2130C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907207 | ||||||
| chr1:185907255
|
C | T | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.622-2082C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907255 | ||||||
| chr1:185907560
|
G | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-1777G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907560 | ||||||
| chr1:185907723
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.622-1614G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907723 | ||||||
| chr1:185907766
|
G | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.622-1571G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907766 | ||||||
| chr1:185907808
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-1529A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907808 | ||||||
| chr1:185907870
|
ATT | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-1465_622-1464d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185907870 | |||||
| chr1:185907927
|
CATT | C | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-1408_622-1406d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185907927 | |||||
| chr1:185907938
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-1399A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185907938 | ||||||
| chr1:185908159
|
A | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.622-1178A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908159 | ||||||
| chr1:185908231
|
GA | G | 12 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(9): Show | 12 | HG01069.hp1 HG01099.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.622-1096delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | INFO_REALIGN_3_PRIME | chr1 | 185908231 | |||||
| chr1:185908249
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-1088T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908249 | ||||||
| chr1:185908553
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-784C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908553 | ||||||
| chr1:185908671
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.622-666A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908671 | ||||||
| chr1:185908915
|
G | A | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.622-422G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908915 | ||||||
| chr1:185908965
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.622-372T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185908965 | ||||||
| chr1:185909102
|
G | A | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.622-235G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185909102 | ||||||
| chr1:185909169
|
A | G | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.622-168A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185909169 | ||||||
| chr1:185909210
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.622-127G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185909210 | ||||||
| chr1:185909305
|
A | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.622-32A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 4/106 | chr1 | 185909305 | ||||||
| chr1:185909535
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.793+27A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185909535 | ||||||
| chr1:185909707
|
T | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.793+199T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185909707 | ||||||
| chr1:185909718
|
C | T | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.793+210C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185909718 | ||||||
| chr1:185910007
|
T | G | 1 | a0012c0017t0001g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.793+499T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910007 | ||||||
| chr1:185910113
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.793+605G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910113 | ||||||
| chr1:185910132
|
T | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.793+624T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910132 | ||||||
| chr1:185910193
|
A | AT | 3 | a0022c0049t0001g0037a0028c0020t0002g0068a0029c0022t0001g0092 | 3 | HG02723.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.793+692dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | INFO_REALIGN_3_PRIME | chr1 | 185910193 | |||||
| chr1:185910219
|
G | C | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.793+711G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910219 | ||||||
| chr1:185910348
|
T | C | 2 | a0001c0035t0001g0020a0037c0038t0001g0038 | 2 | HG01243.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.793+840T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910348 | ||||||
| chr1:185910362
|
T | C | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.793+854T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910362 | ||||||
| chr1:185910469
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.793+961A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910469 | ||||||
| chr1:185910572
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.793+1064C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910572 | ||||||
| chr1:185910572
|
CT | C | 18 | a0001c0001t0002g0004a0001c0001t0002g0089a0004c0002t0001g0014others(15): Show | 18 | HG00323.hp1 HG01099.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.793+1080delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | INFO_REALIGN_3_PRIME | chr1 | 185910572 | |||||
| chr1:185910610
|
A | T | 1 | a0004c0002t0001g0014 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.794-1064A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910610 | ||||||
| chr1:185910698
|
G | A | 2 | a0001c0001t0001g0075a0031c0023t0001g0074 | 2 | HG00735.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.794-976G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910698 | ||||||
| chr1:185910728
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.794-946G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910728 | ||||||
| chr1:185910858
|
C | T | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.794-816C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910858 | ||||||
| chr1:185910921
|
T | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.794-753T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910921 | ||||||
| chr1:185910981
|
A | G | 14 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(11): Show | 14 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.794-693A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185910981 | ||||||
| chr1:185911228
|
C | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.794-446C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185911228 | ||||||
| chr1:185911275
|
A | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.794-399A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185911275 | ||||||
| chr1:185911289
|
C | T | 13 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(10): Show | 13 | HG01192.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.794-385C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185911289 | ||||||
| chr1:185911431
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.794-243G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185911431 | ||||||
| chr1:185911486
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.794-188G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 5/106 | chr1 | 185911486 | ||||||
| chr1:185911797
|
A | G | 15 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(12): Show | 15 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.900+17A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185911797 | ||||||
| chr1:185911924
|
T | TAGG | 28 | a0001c0001t0002g0004a0004c0002t0001g0014a0004c0002t0001g0015others(25): Show | 28 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(25): Show |
intron_variant | MODIFIER | c.900+145_900+147dup others(3): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185911924 | |||||
| chr1:185912139
|
T | C | 16 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(13): Show | 16 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.900+359T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912139 | ||||||
| chr1:185912163
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.900+383A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912163 | ||||||
| chr1:185912396
|
A | G | 27 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(24): Show | 27 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.900+616A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912396 | ||||||
| chr1:185912442
|
A | G | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.900+662A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912442 | ||||||
| chr1:185912459
|
C | T | 36 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(33): Show | 36 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(33): Show |
intron_variant | MODIFIER | c.900+679C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912459 | ||||||
| chr1:185912568
|
C | T | 27 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(24): Show | 27 | HG01099.hp2 HG01192.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.900+788C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912568 | ||||||
| chr1:185912569
|
A | G | 5 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(2): Show | 5 | HG01192.hp2 HG02258.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.900+789A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912569 | ||||||
| chr1:185912640
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.900+860A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912640 | ||||||
| chr1:185912660
|
G | A | 2 | a0001c0001t0001g0082a0016c0047t0001g0081 | 2 | HG01891.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.900+880G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912660 | ||||||
| chr1:185912694
|
T | C | 29 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(26): Show | 29 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.900+914T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912694 | ||||||
| chr1:185912945
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.900+1165T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185912945 | ||||||
| chr1:185913050
|
C | T | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.900+1270C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185913050 | ||||||
| chr1:185913223
|
C | T | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.900+1443C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185913223 | ||||||
| chr1:185913947
|
T | G | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.900+2167T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185913947 | ||||||
| chr1:185914613
|
C | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.900+2833C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185914613 | ||||||
| chr1:185914752
|
G | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.900+2972G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185914752 | ||||||
| chr1:185914796
|
C | CT | 24 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(21): Show | 24 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.900+3017dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185914796 | |||||
| chr1:185914954
|
A | G | 24 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(21): Show | 24 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.900+3174A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185914954 | ||||||
| chr1:185915012
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.900+3232C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915012 | ||||||
| chr1:185915191
|
T | C | 30 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(27): Show | 30 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.900+3411T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915191 | ||||||
| chr1:185915299
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.900+3519C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915299 | ||||||
| chr1:185915599
|
G | A | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.900+3819G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915599 | ||||||
| chr1:185915799
|
G | A | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.900+4019G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915799 | ||||||
| chr1:185915830
|
T | C | 24 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(21): Show | 24 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.900+4050T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915830 | ||||||
| chr1:185915872
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.900+4092A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915872 | ||||||
| chr1:185915963
|
G | A | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.900+4183G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185915963 | ||||||
| chr1:185916003
|
C | T | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.900+4223C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916003 | ||||||
| chr1:185916046
|
G | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.900+4266G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916046 | ||||||
| chr1:185916057
|
C | T | 24 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(21): Show | 24 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.900+4277C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916057 | ||||||
| chr1:185916068
|
A | ATG | 6 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(3): Show | 6 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.900+4306_900+4307d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185916068 | |||||
| chr1:185916068
|
A | ATGTG | 21 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(18): Show | 21 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.900+4304_900+4307d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185916068 | |||||
| chr1:185916068
|
A | ATGTGTG | 5 | a0002c0004t0002g0023a0002c0004t0002g0024a0008c0009t0002g0085others(2): Show | 5 | HG00323.hp1 HG02451.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.900+4302_900+4307d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185916068 | |||||
| chr1:185916123
|
A | T | 40 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(37): Show | 40 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.900+4343A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916123 | ||||||
| chr1:185916343
|
A | T | 26 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(23): Show | 26 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.900+4563A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916343 | ||||||
| chr1:185916409
|
G | A | 15 | a0002c0004t0002g0023a0002c0004t0002g0024a0005c0005t0003g0011others(12): Show | 15 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.900+4629G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916409 | ||||||
| chr1:185916499
|
C | T | 1 | a0012c0017t0001g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.900+4719C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916499 | ||||||
| chr1:185916605
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.900+4825T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916605 | ||||||
| chr1:185916659
|
T | A | 2 | a0008c0009t0002g0085a0015c0012t0008g0001 | 2 | HG00323.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.900+4879T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916659 | ||||||
| chr1:185916782
|
G | A | 3 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0027t0002g0088 | 3 | HG01891.hp2 HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.900+5002G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916782 | ||||||
| chr1:185916811
|
T | C | 24 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(21): Show | 24 | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.900+5031T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916811 | ||||||
| chr1:185916848
|
C | T | 4 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022others(1): Show | 4 | HG02055.hp2 HG02451.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.900+5068C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185916848 | ||||||
| chr1:185917019
|
A | G | 40 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(37): Show | 40 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.900+5239A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917019 | ||||||
| chr1:185917031
|
T | C | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.900+5251T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917031 | ||||||
| chr1:185917116
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.901-5263G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917116 | ||||||
| chr1:185917159
|
T | C | 3 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0027t0002g0088 | 3 | HG01891.hp2 HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.901-5220T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917159 | ||||||
| chr1:185917205
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.901-5174A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917205 | ||||||
| chr1:185917206
|
C | T | 18 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(15): Show | 18 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.901-5173C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917206 | ||||||
| chr1:185917918
|
C | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.901-4461C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185917918 | ||||||
| chr1:185918010
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.901-4369C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185918010 | ||||||
| chr1:185918122
|
G | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.901-4257G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185918122 | ||||||
| chr1:185918224
|
G | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.901-4155G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185918224 | ||||||
| chr1:185918596
|
C | T | 3 | a0001c0001t0001g0075a0031c0023t0001g0074a0039c0033t0001g0076 | 3 | HG00735.hp1 HG01099.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.901-3783C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185918596 | ||||||
| chr1:185918694
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.901-3685C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185918694 | ||||||
| chr1:185919071
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.901-3308G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919071 | ||||||
| chr1:185919074
|
C | CAT | 2 | a0006c0006t0005g0080a0032c0024t0001g0040 | 2 | HG01516.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.901-3289_901-3288d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185919074 | |||||
| chr1:185919074
|
C | CATATATA others(15): Show |
1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.901-3288_901-3287i others(24): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185919074 | |||||
| chr1:185919074
|
C | CATATATA others(19): Show |
1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.901-3288_901-3287i others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185919074 | |||||
| chr1:185919074
|
C | CATATATA others(33): Show |
1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.901-3288_901-3287i others(42): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185919074 | |||||
| chr1:185919074
|
CAT | C | 16 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(13): Show | 16 | HG01192.hp2 HG01891.hp2 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.901-3289_901-3288d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | INFO_REALIGN_3_PRIME | chr1 | 185919074 | |||||
| chr1:185919268
|
T | C | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.901-3111T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919268 | ||||||
| chr1:185919278
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.901-3101A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919278 | ||||||
| chr1:185919307
|
C | A | 21 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(18): Show | 21 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.901-3072C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919307 | ||||||
| chr1:185919487
|
A | G | 6 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(3): Show | 6 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.901-2892A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919487 | ||||||
| chr1:185919810
|
A | G | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.901-2569A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185919810 | ||||||
| chr1:185920289
|
G | A | 14 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(11): Show | 14 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.901-2090G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185920289 | ||||||
| chr1:185920624
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.901-1755G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185920624 | ||||||
| chr1:185920770
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.901-1609A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185920770 | ||||||
| chr1:185921220
|
A | G | 19 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(16): Show | 19 | HG01099.hp2 HG01192.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.901-1159A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185921220 | ||||||
| chr1:185921610
|
T | C | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.901-769T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185921610 | ||||||
| chr1:185921898
|
G | C | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.901-481G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185921898 | ||||||
| chr1:185921921
|
G | A | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.901-458G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185921921 | ||||||
| chr1:185922220
|
A | G | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.901-159A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185922220 | ||||||
| chr1:185922253
|
T | G | 19 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(16): Show | 19 | HG01099.hp2 HG01192.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.901-126T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185922253 | ||||||
| chr1:185922277
|
G | A | 6 | a0001c0001t0002g0004a0027c0019t0001g0008a0033c0029t0001g0009others(3): Show | 6 | HG00639.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.901-102G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 6/106 | chr1 | 185922277 | ||||||
| chr1:185923259
|
A | G | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG01099.hp2 HG01192.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1022-131A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 7/106 | chr1 | 185923259 | ||||||
| chr1:185924215
|
C | CT | 20 | a0001c0001t0001g0052a0001c0001t0001g0083a0001c0001t0001g0091others(17): Show | 20 | HG00323.hp2 HG00735.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.1285+595dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
C | CTT | 12 | a0001c0001t0002g0004a0001c0035t0001g0020a0004c0002t0001g0014others(9): Show | 12 | HG01074.hp1 HG01243.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.1285+594_1285+595d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
C | CTTT | 7 | a0004c0002t0001g0017a0004c0002t0001g0072a0020c0055t0001g0013others(4): Show | 7 | HG00639.hp2 HG00735.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.1285+593_1285+595d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
C | CTTTTTTT others(8): Show |
1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1285+581_1285+595d others(17): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
CT | C | 4 | a0011c0008t0001g0069a0014c0013t0001g0056a0018c0046t0001g0059others(1): Show | 4 | HG03041.hp2 HG03139.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.1285+595delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
CTTT | C | 7 | a0002c0004t0002g0023a0002c0004t0002g0024a0005c0005t0003g0011others(4): Show | 7 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.1285+593_1285+595d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924215
|
CTTTTTTT others(6): Show |
C | 4 | a0001c0001t0001g0078a0013c0011t0004g0057a0013c0011t0004g0058others(1): Show | 4 | HG00323.hp1 HG02258.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.1285+583_1285+595d others(15): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | INFO_REALIGN_3_PRIME | chr1 | 185924215 | |||||
| chr1:185924274
|
A | T | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1285+621A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924274 | ||||||
| chr1:185924323
|
C | T | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1285+670C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924323 | ||||||
| chr1:185924337
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1285+684T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924337 | ||||||
| chr1:185924342
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1285+689T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924342 | ||||||
| chr1:185924376
|
G | A | 21 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(18): Show | 21 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(18): Show |
intron_variant | MODIFIER | c.1286-671G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924376 | ||||||
| chr1:185924406
|
T | C | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG01099.hp2 HG01192.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1286-641T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924406 | ||||||
| chr1:185924581
|
A | G | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1286-466A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924581 | ||||||
| chr1:185924867
|
C | A | 6 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(3): Show | 6 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1286-180C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 8/106 | chr1 | 185924867 | ||||||
| chr1:185925496
|
T | C | 2 | a0001c0001t0002g0089a0001c0001t0002g0090 | 2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1430+305T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185925496 | ||||||
| chr1:185925605
|
T | A | 3 | a0001c0001t0001g0052a0028c0020t0002g0068a0029c0022t0001g0092 | 3 | HG02723.hp1 NA18960.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1430+414T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185925605 | ||||||
| chr1:185926434
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1430+1243G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185926434 | ||||||
| chr1:185926450
|
A | C | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056 | 3 | HG01069.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1430+1259A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185926450 | ||||||
| chr1:185926906
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1431-1640T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185926906 | ||||||
| chr1:185927115
|
C | G | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1431-1431C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185927115 | ||||||
| chr1:185927638
|
A | G | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1431-908A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185927638 | ||||||
| chr1:185927661
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1431-885T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185927661 | ||||||
| chr1:185927765
|
C | T | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1431-781C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185927765 | ||||||
| chr1:185927867
|
T | C | 1 | a0006c0006t0001g0049 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1431-679T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185927867 | ||||||
| chr1:185928243
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1431-303A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185928243 | ||||||
| chr1:185928463
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1431-83C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 9/106 | chr1 | 185928463 | ||||||
| chr1:185928739
|
A | T | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1552+72A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185928739 | ||||||
| chr1:185928755
|
A | T | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1552+88A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185928755 | ||||||
| chr1:185928839
|
C | T | 27 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(24): Show | 27 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.1552+172C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185928839 | ||||||
| chr1:185928898
|
G | A | 32 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(29): Show | 32 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.1552+231G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185928898 | ||||||
| chr1:185929049
|
G | GATT | 26 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(23): Show | 26 | HG01099.hp2 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.1552+384_1552+386d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185929049 | |||||
| chr1:185929100
|
T | C | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1552+433T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185929100 | ||||||
| chr1:185929170
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1552+503T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185929170 | ||||||
| chr1:185929419
|
A | T | 6 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(3): Show | 6 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1552+752A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185929419 | ||||||
| chr1:185929466
|
G | A | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1552+799G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185929466 | ||||||
| chr1:185930071
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1552+1404G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930071 | ||||||
| chr1:185930240
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1552+1573G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930240 | ||||||
| chr1:185930296
|
G | A | 1 | a0028c0020t0002g0068 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1552+1629G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930296 | ||||||
| chr1:185930322
|
A | C | 82 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0078others(79): Show | 82 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.1552+1655A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930322 | ||||||
| chr1:185930744
|
G | C | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1552+2077G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930744 | ||||||
| chr1:185930907
|
T | TAC | 13 | a0001c0001t0001g0082a0001c0001t0002g0021a0002c0004t0001g0030others(10): Show | 13 | HG01261.hp1 HG01978.hp1 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.1552+2276_1552+227 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACAC | 8 | a0001c0035t0001g0020a0002c0007t0002g0025a0009c0052t0002g0077others(5): Show | 8 | HG00323.hp1 HG01243.hp2 HG01516.hp1 others(5): Show |
intron_variant | MODIFIER | c.1552+2274_1552+227 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACACAC | 8 | a0007c0010t0001g0005a0010c0053t0001g0079a0011c0008t0001g0069others(5): Show | 8 | HG01192.hp2 HG02109.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1552+2272_1552+227 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACACACA others(1): Show |
2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1552+2270_1552+227 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACACACA others(3): Show |
2 | a0013c0011t0004g0057a0014c0013t0001g0056 | 2 | HG02258.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1552+2268_1552+227 others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACACACA others(7): Show |
1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1552+2264_1552+227 others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
T | TACACACA others(9): Show |
1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1552+2262_1552+227 others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
TAC | T | 4 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022others(1): Show | 4 | HG02055.hp2 HG02451.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1552+2276_1552+227 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930907
|
TACAC | T | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1552+2274_1552+227 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | INFO_REALIGN_3_PRIME | chr1 | 185930907 | |||||
| chr1:185930925
|
C | T | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1552+2258C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930925 | ||||||
| chr1:185930954
|
A | C | 26 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(23): Show | 26 | HG01099.hp2 HG01192.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.1552+2287A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930954 | ||||||
| chr1:185930983
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1552+2316G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185930983 | ||||||
| chr1:185931044
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1552+2377C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931044 | ||||||
| chr1:185931149
|
G | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1553-2400G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931149 | ||||||
| chr1:185931302
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1553-2247T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931302 | ||||||
| chr1:185931510
|
C | T | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1553-2039C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931510 | ||||||
| chr1:185931665
|
G | A | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1553-1884G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931665 | ||||||
| chr1:185931761
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1553-1788G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931761 | ||||||
| chr1:185931891
|
A | G | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1553-1658A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185931891 | ||||||
| chr1:185932452
|
C | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1553-1097C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185932452 | ||||||
| chr1:185932781
|
G | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1553-768G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 10/106 | chr1 | 185932781 | ||||||
| chr1:185933846
|
T | C | 12 | a0007c0010t0001g0005a0009c0052t0002g0077a0010c0053t0001g0079others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1828+22T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185933846 | ||||||
| chr1:185934318
|
T | C | 11 | a0007c0010t0001g0005a0009c0052t0002g0077a0010c0053t0001g0079others(8): Show | 11 | HG01192.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+494T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185934318 | ||||||
| chr1:185934515
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1828+691C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185934515 | ||||||
| chr1:185934601
|
A | G | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1828+777A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185934601 | ||||||
| chr1:185935219
|
C | A | 11 | a0007c0010t0001g0005a0009c0052t0002g0077a0010c0053t0001g0079others(8): Show | 11 | HG01192.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+1395C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935219 | ||||||
| chr1:185935235
|
G | C | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1828+1411G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935235 | ||||||
| chr1:185935335
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1828+1511C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935335 | ||||||
| chr1:185935497
|
C | T | 3 | a0027c0019t0001g0008a0033c0029t0001g0009a0038c0036t0005g0033 | 3 | HG00639.hp2 HG02486.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.1828+1673C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935497 | ||||||
| chr1:185935548
|
T | A | 1 | a0001c0001t0001g0075 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1828+1724T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935548 | ||||||
| chr1:185935603
|
AT | A | 7 | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0091others(4): Show | 7 | HG01891.hp2 HG02109.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1828+1780delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935603 | ||||||
| chr1:185935797
|
T | C | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1828+1973T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185935797 | ||||||
| chr1:185936532
|
A | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1828+2708A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185936532 | ||||||
| chr1:185936683
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1828+2859C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185936683 | ||||||
| chr1:185937074
|
C | T | 14 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0002g0004others(11): Show | 14 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(11): Show |
intron_variant | MODIFIER | c.1828+3250C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185937074 | ||||||
| chr1:185937075
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1828+3251G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185937075 | ||||||
| chr1:185937290
|
A | G | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1828+3466A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185937290 | ||||||
| chr1:185937489
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1828+3665C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185937489 | ||||||
| chr1:185937882
|
A | AAAT | 10 | a0001c0001t0001g0082a0002c0007t0002g0029a0002c0007t0006g0028others(7): Show | 10 | HG00323.hp1 HG00639.hp2 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.1828+4096_1828+409 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185937882 | |||||
| chr1:185937882
|
AAAT | A | 14 | a0001c0001t0001g0083a0001c0001t0002g0004a0002c0004t0001g0050others(11): Show | 14 | HG01192.hp2 HG02055.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1828+4096_1828+409 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185937882 | |||||
| chr1:185937882
|
AAATAATA others(2): Show |
A | 10 | a0002c0004t0002g0023a0005c0005t0003g0011a0005c0005t0003g0012others(7): Show | 10 | HG01069.hp1 HG01243.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.1828+4090_1828+409 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185937882 | |||||
| chr1:185938047
|
T | C | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1828+4223T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185938047 | ||||||
| chr1:185938539
|
A | G | 9 | a0007c0010t0001g0005a0009c0052t0002g0077a0010c0053t0001g0079others(6): Show | 9 | HG01192.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.1828+4715A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185938539 | ||||||
| chr1:185938684
|
G | A | 5 | a0027c0019t0001g0008a0033c0029t0001g0009a0038c0036t0005g0033others(2): Show | 5 | HG00639.hp2 HG02486.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.1828+4860G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185938684 | ||||||
| chr1:185939176
|
C | T | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1828+5352C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185939176 | ||||||
| chr1:185939544
|
G | A | 1 | a0012c0017t0001g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1828+5720G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185939544 | ||||||
| chr1:185940334
|
T | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1828+6510T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185940334 | ||||||
| chr1:185940366
|
TA | T | 7 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0002g0032others(4): Show | 7 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.1828+6551delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185940366 | |||||
| chr1:185940625
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1828+6801T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185940625 | ||||||
| chr1:185940826
|
C | T | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1828+7002C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185940826 | ||||||
| chr1:185941132
|
G | A | 11 | a0007c0010t0001g0005a0009c0052t0002g0077a0010c0053t0001g0079others(8): Show | 11 | HG01192.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+7308G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185941132 | ||||||
| chr1:185941586
|
T | C | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1828+7762T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185941586 | ||||||
| chr1:185942130
|
G | A | 11 | a0001c0001t0001g0078a0005c0005t0003g0011a0005c0005t0003g0012others(8): Show | 11 | HG01069.hp1 HG01243.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+8306G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942130 | ||||||
| chr1:185942147
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1828+8323C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942147 | ||||||
| chr1:185942190
|
C | CA | 5 | a0022c0049t0001g0037a0026c0040t0003g0086a0029c0022t0001g0092others(2): Show | 5 | HG02055.hp2 HG02723.hp1 HG03942.hp2 others(2): Show |
intron_variant | MODIFIER | c.1828+8384dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185942190 | |||||
| chr1:185942238
|
T | A | 4 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022others(1): Show | 4 | HG02055.hp2 HG02451.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1828+8414T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942238 | ||||||
| chr1:185942250
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1828+8426T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942250 | ||||||
| chr1:185942274
|
A | T | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1828+8450A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942274 | ||||||
| chr1:185942428
|
C | T | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1828+8604C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942428 | ||||||
| chr1:185942565
|
A | T | 64 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0078others(61): Show | 64 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(61): Show |
intron_variant | MODIFIER | c.1828+8741A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942565 | ||||||
| chr1:185942587
|
C | T | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1828+8763C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185942587 | ||||||
| chr1:185943137
|
G | A | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1828+9313G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185943137 | ||||||
| chr1:185944162
|
G | GA | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG01192.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+10348dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185944162 | |||||
| chr1:185944772
|
A | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1828+10948A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185944772 | ||||||
| chr1:185944907
|
C | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1828+11083C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185944907 | ||||||
| chr1:185945123
|
G | T | 1 | a0031c0023t0001g0074 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1828+11299G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185945123 | ||||||
| chr1:185945400
|
T | A | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1828+11576T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185945400 | ||||||
| chr1:185945406
|
T | C | 1 | a0031c0023t0001g0074 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1828+11582T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185945406 | ||||||
| chr1:185946041
|
G | T | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1828+12217G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946041 | ||||||
| chr1:185946200
|
G | A | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1828+12376G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946200 | ||||||
| chr1:185946244
|
T | C | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1828+12420T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946244 | ||||||
| chr1:185946259
|
G | A | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG02109.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.1828+12435G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946259 | ||||||
| chr1:185946297
|
G | T | 32 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(29): Show | 32 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.1828+12473G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946297 | ||||||
| chr1:185946306
|
C | T | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1828+12482C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946306 | ||||||
| chr1:185946379
|
T | TC | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056 | 3 | HG01069.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1828+12556dupC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185946379 | |||||
| chr1:185946520
|
T | C | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056 | 3 | HG01069.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1828+12696T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946520 | ||||||
| chr1:185946938
|
T | A | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1828+13114T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185946938 | ||||||
| chr1:185947115
|
G | A | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1828+13291G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947115 | ||||||
| chr1:185947117
|
A | C | 1 | a0002c0004t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1828+13293A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947117 | ||||||
| chr1:185947133
|
G | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1828+13309G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947133 | ||||||
| chr1:185947287
|
C | T | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1828+13463C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947287 | ||||||
| chr1:185947721
|
G | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1828+13897G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947721 | ||||||
| chr1:185947904
|
C | T | 1 | a0029c0022t0001g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1828+14080C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185947904 | ||||||
| chr1:185948223
|
A | G | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-14295A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948223 | ||||||
| chr1:185948269
|
A | G | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-14249A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948269 | ||||||
| chr1:185948275
|
C | T | 4 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022others(1): Show | 4 | HG02055.hp2 HG02451.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1829-14243C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948275 | ||||||
| chr1:185948298
|
CAGACCAC others(5478): Show |
C | 2 | a0009c0052t0002g0077a0010c0053t0001g0079 | 2 | HG02622.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1829-13846_1829-83 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185948298 | |||||
| chr1:185948565
|
A | C | 9 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(6): Show | 9 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1829-13953A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948565 | ||||||
| chr1:185948818
|
A | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1829-13700A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948818 | ||||||
| chr1:185948868
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-13650C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948868 | ||||||
| chr1:185948881
|
A | G | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056 | 3 | HG01069.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1829-13637A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948881 | ||||||
| chr1:185948890
|
G | C | 3 | a0004c0002t0001g0015a0004c0002t0001g0016a0004c0002t0001g0036 | 3 | HG01099.hp2 HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1829-13628G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948890 | ||||||
| chr1:185948911
|
T | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1829-13607T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948911 | ||||||
| chr1:185948914
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-13604G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185948914 | ||||||
| chr1:185949182
|
A | T | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1829-13336A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949182 | ||||||
| chr1:185949199
|
A | G | 2 | a0007c0010t0001g0005a0034c0031t0001g0006 | 2 | HG02109.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1829-13319A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949199 | ||||||
| chr1:185949256
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-13262C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949256 | ||||||
| chr1:185949259
|
T | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-13259T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949259 | ||||||
| chr1:185949265
|
T | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-13253T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949265 | ||||||
| chr1:185949293
|
G | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1829-13225G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949293 | ||||||
| chr1:185949497
|
T | C | 9 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(6): Show | 9 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1829-13021T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949497 | ||||||
| chr1:185949540
|
A | G | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1829-12978A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949540 | ||||||
| chr1:185949542
|
G | A | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1829-12976G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949542 | ||||||
| chr1:185949861
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1829-12657G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949861 | ||||||
| chr1:185949920
|
T | C | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1829-12598T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185949920 | ||||||
| chr1:185950014
|
T | C | 1 | a0002c0004t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1829-12504T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950014 | ||||||
| chr1:185950036
|
T | C | 12 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1829-12482T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950036 | ||||||
| chr1:185950107
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-12411G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950107 | ||||||
| chr1:185950154
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-12364G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950154 | ||||||
| chr1:185950193
|
G | A | 12 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1829-12325G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950193 | ||||||
| chr1:185950199
|
G | A | 12 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1829-12319G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950199 | ||||||
| chr1:185950232
|
C | T | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(8): Show | 11 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-12286C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950232 | ||||||
| chr1:185950246
|
G | T | 8 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(5): Show | 8 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.1829-12272G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950246 | ||||||
| chr1:185950248
|
GA | G | 2 | a0015c0012t0008g0001a0034c0031t0001g0006 | 2 | HG00323.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1829-12268delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185950248 | |||||
| chr1:185950249
|
A | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-12269A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950249 | ||||||
| chr1:185950252
|
C | T | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1829-12266C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950252 | ||||||
| chr1:185950265
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-12253C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950265 | ||||||
| chr1:185950266
|
G | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1829-12252G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950266 | ||||||
| chr1:185950377
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-12141G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950377 | ||||||
| chr1:185950446
|
A | T | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0015c0012t0008g0001 | 3 | HG00323.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-12072A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950446 | ||||||
| chr1:185950478
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-12040C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950478 | ||||||
| chr1:185950648
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-11870G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950648 | ||||||
| chr1:185950667
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-11851A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950667 | ||||||
| chr1:185950684
|
A | C | 12 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1829-11834A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950684 | ||||||
| chr1:185950695
|
C | A | 12 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(9): Show | 12 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1829-11823C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950695 | ||||||
| chr1:185950729
|
G | A | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-11789G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950729 | ||||||
| chr1:185950729
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11789G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950729 | ||||||
| chr1:185950745
|
T | G | 9 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(6): Show | 9 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1829-11773T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950745 | ||||||
| chr1:185950747
|
A | C | 9 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(6): Show | 9 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.1829-11771A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950747 | ||||||
| chr1:185950774
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-11744A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950774 | ||||||
| chr1:185950786
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11732C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950786 | ||||||
| chr1:185950852
|
G | C | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1829-11666G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950852 | ||||||
| chr1:185950886
|
T | C | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1829-11632T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950886 | ||||||
| chr1:185950915
|
G | C | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1829-11603G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950915 | ||||||
| chr1:185950989
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11529G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950989 | ||||||
| chr1:185950992
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11526G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185950992 | ||||||
| chr1:185951006
|
T | G | 4 | a0001c0001t0001g0010a0001c0001t0002g0032a0037c0038t0001g0038others(1): Show | 4 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(1): Show |
intron_variant | MODIFIER | c.1829-11512T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951006 | ||||||
| chr1:185951030
|
G | A | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-11488G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951030 | ||||||
| chr1:185951048
|
C | T | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0047c0014t0001g0055 | 3 | HG02055.hp2 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11470C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951048 | ||||||
| chr1:185951147
|
T | TA | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-11371_1829-11 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951147 | ||||||
| chr1:185951168
|
C | T | 1 | a0039c0033t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1829-11350C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951168 | ||||||
| chr1:185951211
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-11307A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951211 | ||||||
| chr1:185951212
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-11306T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951212 | ||||||
| chr1:185951257
|
G | A | 4 | a0001c0001t0001g0087a0013c0011t0004g0057a0013c0011t0004g0058others(1): Show | 4 | HG00323.hp1 HG02258.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1829-11261G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951257 | ||||||
| chr1:185951306
|
G | C | 7 | a0007c0010t0002g0003a0011c0008t0001g0069a0011c0008t0001g0070others(4): Show | 7 | HG01192.hp2 HG01891.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.1829-11212G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951306 | ||||||
| chr1:185951341
|
C | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-11177C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951341 | ||||||
| chr1:185951344
|
C | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-11174C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951344 | ||||||
| chr1:185951376
|
C | T | 8 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(5): Show | 8 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.1829-11142C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951376 | ||||||
| chr1:185951413
|
G | A | 4 | a0004c0002t0001g0015a0004c0002t0001g0016a0004c0002t0001g0036others(1): Show | 4 | HG01099.hp2 HG02280.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1829-11105G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951413 | ||||||
| chr1:185951429
|
G | T | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11089G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951429 | ||||||
| chr1:185951441
|
C | T | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11077C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951441 | ||||||
| chr1:185951452
|
T | C | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11066T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951452 | ||||||
| chr1:185951453
|
G | A | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11065G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951453 | ||||||
| chr1:185951472
|
T | C | 5 | a0001c0015t0001g0045a0007c0010t0001g0005a0010c0051t0001g0047others(2): Show | 5 | HG01192.hp1 HG02109.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1829-11046T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951472 | ||||||
| chr1:185951480
|
A | C | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0010c0051t0001g0047others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-11038A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951480 | ||||||
| chr1:185951487
|
C | T | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11031C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951487 | ||||||
| chr1:185951501
|
C | T | 2 | a0010c0051t0001g0047a0015c0012t0008g0001 | 2 | HG00323.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1829-11017C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951501 | ||||||
| chr1:185951509
|
A | G | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11009A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951509 | ||||||
| chr1:185951511
|
T | C | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11007T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951511 | ||||||
| chr1:185951512
|
G | A | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11006G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951512 | ||||||
| chr1:185951516
|
A | G | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1829-11002A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951516 | ||||||
| chr1:185951552
|
T | C | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1829-10966T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951552 | ||||||
| chr1:185951553
|
G | A | 3 | a0007c0010t0002g0003a0010c0051t0001g0047a0015c0012t0008g0001 | 3 | HG00323.hp1 HG02615.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1829-10965G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951553 | ||||||
| chr1:185951566
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1829-10952C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951566 | ||||||
| chr1:185951576
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1829-10942A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951576 | ||||||
| chr1:185951605
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-10913G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951605 | ||||||
| chr1:185951695
|
T | C | 32 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(29): Show | 32 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(29): Show |
intron_variant | MODIFIER | c.1829-10823T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951695 | ||||||
| chr1:185951696
|
G | A | 30 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(27): Show | 30 | HG01069.hp1 HG01099.hp2 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.1829-10822G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951696 | ||||||
| chr1:185951698
|
C | T | 30 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(27): Show | 30 | HG01069.hp1 HG01099.hp2 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.1829-10820C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951698 | ||||||
| chr1:185951713
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1829-10805G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951713 | ||||||
| chr1:185951719
|
A | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1829-10799A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951719 | ||||||
| chr1:185951727
|
T | C | 10 | a0001c0001t0001g0078a0005c0005t0003g0012a0008c0009t0001g0084others(7): Show | 10 | HG01069.hp1 HG01243.hp1 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-10791T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951727 | ||||||
| chr1:185951755
|
C | T | 13 | a0005c0005t0003g0011a0005c0005t0003g0061a0007c0010t0001g0005others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-10763C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951755 | ||||||
| chr1:185951772
|
G | T | 1 | a0005c0005t0003g0012 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1829-10746G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951772 | ||||||
| chr1:185951781
|
G | C | 2 | a0005c0005t0003g0012a0016c0047t0001g0081 | 2 | HG01243.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.1829-10737G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951781 | ||||||
| chr1:185951785
|
T | A | 5 | a0005c0005t0003g0012a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG00323.hp1 HG01243.hp1 HG01891.hp1 others(2): Show |
intron_variant | MODIFIER | c.1829-10733T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951785 | ||||||
| chr1:185951793
|
C | G | 2 | a0001c0001t0001g0082a0017c0054t0003g0027 | 2 | HG03041.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1829-10725C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951793 | ||||||
| chr1:185951793
|
C | T | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0021c0057t0001g0019 | 3 | HG02258.hp1 HG03486.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1829-10725C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951793 | ||||||
| chr1:185951801
|
T | C | 3 | a0007c0010t0001g0005a0007c0010t0002g0003a0016c0047t0001g0081 | 3 | HG01891.hp1 HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1829-10717T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951801 | ||||||
| chr1:185951806
|
C | T | 2 | a0001c0035t0001g0020a0032c0024t0001g0040 | 2 | HG01243.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.1829-10712C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951806 | ||||||
| chr1:185951816
|
A | G | 15 | a0005c0005t0003g0012a0007c0010t0001g0005a0007c0010t0002g0003others(12): Show | 15 | HG00323.hp1 HG01069.hp1 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.1829-10702A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951816 | ||||||
| chr1:185951900
|
T | C | 6 | a0004c0002t0001g0014a0005c0005t0003g0011a0005c0005t0003g0012others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1829-10618T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951900 | ||||||
| chr1:185951926
|
A | G | 2 | a0003c0043t0001g0066a0030c0021t0001g0067 | 2 | HG02040.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1829-10592A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951926 | ||||||
| chr1:185951950
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1829-10568G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185951950 | ||||||
| chr1:185952080
|
G | A | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-10438G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952080 | ||||||
| chr1:185952123
|
C | T | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1829-10395C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952123 | ||||||
| chr1:185952129
|
C | T | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1829-10389C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952129 | ||||||
| chr1:185952167
|
C | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-10351C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952167 | ||||||
| chr1:185952283
|
T | C | 11 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(8): Show | 11 | HG00323.hp1 HG01099.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1829-10235T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952283 | ||||||
| chr1:185952415
|
C | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1829-10103C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952415 | ||||||
| chr1:185952419
|
G | A | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1829-10099G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952419 | ||||||
| chr1:185952713
|
A | G | 31 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(28): Show | 31 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(28): Show |
intron_variant | MODIFIER | c.1829-9805A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952713 | ||||||
| chr1:185952725
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-9793C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952725 | ||||||
| chr1:185952799
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-9719A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185952799 | ||||||
| chr1:185952886
|
AATTGGGG others(35): Show |
A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1829-9577_1829-953 others(46): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185952886 | |||||
| chr1:185953015
|
T | TG | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-9497dupG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185953015 | |||||
| chr1:185953024
|
T | C | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-9494T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953024 | ||||||
| chr1:185953035
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-9483G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953035 | ||||||
| chr1:185953106
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1829-9412G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953106 | ||||||
| chr1:185953144
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1829-9374G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953144 | ||||||
| chr1:185953428
|
A | G | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0011c0008t0001g0069others(8): Show | 11 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-9090A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953428 | ||||||
| chr1:185953451
|
T | A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1829-9067T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953451 | ||||||
| chr1:185953455
|
C | T | 2 | a0033c0029t0001g0009a0038c0036t0005g0033 | 2 | HG00639.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1829-9063C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953455 | ||||||
| chr1:185953464
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-9054C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953464 | ||||||
| chr1:185953567
|
G | A | 5 | a0001c0001t0001g0078a0008c0009t0001g0084a0008c0009t0002g0085others(2): Show | 5 | HG01069.hp1 HG02280.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-8951G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953567 | ||||||
| chr1:185953613
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-8905T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953613 | ||||||
| chr1:185953671
|
A | G | 1 | a0002c0007t0002g0029 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1829-8847A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953671 | ||||||
| chr1:185953891
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1829-8627G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185953891 | ||||||
| chr1:185954050
|
A | C | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-8468A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954050 | ||||||
| chr1:185954443
|
G | A | 23 | a0001c0001t0001g0078a0005c0005t0003g0011a0005c0005t0003g0012others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.1829-8075G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954443 | ||||||
| chr1:185954582
|
C | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-7936C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954582 | ||||||
| chr1:185954623
|
G | C | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1829-7895G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954623 | ||||||
| chr1:185954641
|
A | T | 11 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(8): Show | 11 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1829-7877A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954641 | ||||||
| chr1:185954657
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1829-7861G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954657 | ||||||
| chr1:185954782
|
C | T | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-7736C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954782 | ||||||
| chr1:185954933
|
A | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1829-7585A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185954933 | ||||||
| chr1:185955096
|
A | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-7422A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185955096 | ||||||
| chr1:185955827
|
C | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-6691C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185955827 | ||||||
| chr1:185956652
|
G | T | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1829-5866G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185956652 | ||||||
| chr1:185956670
|
T | A | 13 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(10): Show | 13 | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-5848T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185956670 | ||||||
| chr1:185956743
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1829-5775G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185956743 | ||||||
| chr1:185957031
|
T | C | 2 | a0001c0001t0001g0078a0018c0046t0001g0059 | 2 | HG02280.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1829-5487T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185957031 | ||||||
| chr1:185957087
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1829-5431A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185957087 | ||||||
| chr1:185957447
|
A | G | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-5071A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185957447 | ||||||
| chr1:185957898
|
T | TATG | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-4618_1829-461 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185957898 | |||||
| chr1:185958081
|
G | A | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1829-4437G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185958081 | ||||||
| chr1:185958355
|
G | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-4163G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185958355 | ||||||
| chr1:185958433
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1829-4085T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185958433 | ||||||
| chr1:185958445
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1829-4073C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185958445 | ||||||
| chr1:185959201
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-3317G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185959201 | ||||||
| chr1:185959261
|
C | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1829-3257C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185959261 | ||||||
| chr1:185959741
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-2777T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185959741 | ||||||
| chr1:185960124
|
CT | C | 27 | a0001c0001t0001g0078a0001c0001t0001g0087a0002c0004t0001g0030others(24): Show | 27 | HG00323.hp2 HG01069.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.1829-2373delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | INFO_REALIGN_3_PRIME | chr1 | 185960124 | |||||
| chr1:185960309
|
G | A | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-2209G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185960309 | ||||||
| chr1:185960938
|
A | G | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1829-1580A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185960938 | ||||||
| chr1:185960995
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-1523T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185960995 | ||||||
| chr1:185961002
|
A | G | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1829-1516A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185961002 | ||||||
| chr1:185961031
|
T | C | 1 | a0039c0033t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1829-1487T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185961031 | ||||||
| chr1:185961213
|
A | G | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1829-1305A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185961213 | ||||||
| chr1:185961642
|
A | G | 33 | a0001c0001t0001g0078a0004c0002t0001g0014a0004c0002t0001g0015others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.1829-876A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185961642 | ||||||
| chr1:185962074
|
T | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1829-444T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185962074 | ||||||
| chr1:185962252
|
G | A | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1829-266G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 11/106 | chr1 | 185962252 | ||||||
| chr1:185962848
|
A | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.1970+189A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185962848 | ||||||
| chr1:185963178
|
A | G | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1970+519A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963178 | ||||||
| chr1:185963264
|
G | A | 13 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(10): Show | 13 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1971-504G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963264 | ||||||
| chr1:185963301
|
G | A | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1971-467G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963301 | ||||||
| chr1:185963301
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1971-467G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963301 | ||||||
| chr1:185963354
|
G | A | 5 | a0004c0002t0001g0014a0004c0002t0001g0017a0004c0002t0001g0072others(2): Show | 5 | HG02451.hp2 HG02886.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1971-414G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963354 | ||||||
| chr1:185963513
|
G | GTT | 6 | a0002c0007t0006g0028a0005c0005t0003g0011a0005c0005t0003g0012others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.1971-255_1971-254i others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963513 | ||||||
| chr1:185963559
|
G | A | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1971-209G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 12/106 | chr1 | 185963559 | ||||||
| chr1:185964396
|
T | C | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2098+501T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964396 | ||||||
| chr1:185964436
|
A | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2098+541A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964436 | ||||||
| chr1:185964768
|
T | C | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2098+873T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964768 | ||||||
| chr1:185964884
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2099-918A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964884 | ||||||
| chr1:185964970
|
T | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2099-832T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964970 | ||||||
| chr1:185964984
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2099-818A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185964984 | ||||||
| chr1:185965063
|
T | TA | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2099-737dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | INFO_REALIGN_3_PRIME | chr1 | 185965063 | |||||
| chr1:185965391
|
G | T | 3 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056 | 3 | HG01069.hp1 HG03225.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2099-411G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185965391 | ||||||
| chr1:185965474
|
T | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2099-328T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185965474 | ||||||
| chr1:185965531
|
C | T | 1 | a0005c0005t0003g0012 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2099-271C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 13/106 | chr1 | 185965531 | ||||||
| chr1:185965969
|
A | T | 33 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.2212+54A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185965969 | ||||||
| chr1:185966136
|
C | T | 1 | a0002c0004t0002g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2212+221C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185966136 | ||||||
| chr1:185966502
|
T | A | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2212+587T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185966502 | ||||||
| chr1:185966918
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2212+1003C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185966918 | ||||||
| chr1:185966919
|
C | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2212+1004C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185966919 | ||||||
| chr1:185967740
|
G | A | 6 | a0001c0001t0002g0004a0001c0001t0002g0021a0033c0029t0001g0009others(3): Show | 6 | HG00639.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2212+1825G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185967740 | ||||||
| chr1:185967787
|
G | A | 3 | a0002c0004t0002g0023a0002c0004t0002g0024a0045c0026t0001g0022 | 3 | HG02451.hp1 HG03540.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2212+1872G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185967787 | ||||||
| chr1:185968033
|
T | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2212+2118T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968033 | ||||||
| chr1:185968070
|
T | A | 1 | a0003c0003t0001g0054 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2212+2155T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968070 | ||||||
| chr1:185968244
|
G | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2213-2091G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968244 | ||||||
| chr1:185968349
|
C | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2213-1986C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968349 | ||||||
| chr1:185968480
|
T | TGATA | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2213-1855_2213-185 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968480 | ||||||
| chr1:185968480
|
T | TGATATA | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2213-1855_2213-185 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968480 | ||||||
| chr1:185968480
|
T | TTA | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2213-1840_2213-183 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | INFO_REALIGN_3_PRIME | chr1 | 185968480 | |||||
| chr1:185968480
|
T | TTATATAT others(5): Show |
1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2213-1850_2213-183 others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | INFO_REALIGN_3_PRIME | chr1 | 185968480 | |||||
| chr1:185968921
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2213-1414A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185968921 | ||||||
| chr1:185969226
|
C | T | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2213-1109C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185969226 | ||||||
| chr1:185969341
|
C | CAGTT | 16 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(13): Show | 16 | HG00323.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.2213-994_2213-993i others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185969341 | ||||||
| chr1:185970095
|
T | G | 22 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01192.hp2 others(19): Show |
intron_variant | MODIFIER | c.2213-240T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185970095 | ||||||
| chr1:185970179
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2213-156A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 14/106 | chr1 | 185970179 | ||||||
| chr1:185970664
|
C | CT | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2371+183dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | INFO_REALIGN_3_PRIME | chr1 | 185970664 | |||||
| chr1:185970701
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2371+208C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185970701 | ||||||
| chr1:185971134
|
G | A | 33 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.2371+641G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185971134 | ||||||
| chr1:185971223
|
T | C | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2371+730T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185971223 | ||||||
| chr1:185971465
|
C | A | 1 | a0031c0023t0001g0074 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2371+972C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185971465 | ||||||
| chr1:185971796
|
T | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2371+1303T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185971796 | ||||||
| chr1:185971820
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2371+1327G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185971820 | ||||||
| chr1:185972008
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2371+1515C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972008 | ||||||
| chr1:185972176
|
G | A | 39 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(36): Show | 39 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.2371+1683G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972176 | ||||||
| chr1:185972491
|
A | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2371+1998A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972491 | ||||||
| chr1:185972603
|
G | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2371+2110G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972603 | ||||||
| chr1:185972643
|
G | A | 79 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(76): Show | 79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2371+2150G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972643 | ||||||
| chr1:185972688
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2371+2195C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972688 | ||||||
| chr1:185972695
|
C | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2371+2202C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972695 | ||||||
| chr1:185972919
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2371+2426C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185972919 | ||||||
| chr1:185973025
|
C | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2371+2532C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185973025 | ||||||
| chr1:185973253
|
T | A | 3 | a0004c0002t0001g0015a0004c0002t0001g0016a0004c0002t0001g0036 | 3 | HG01099.hp2 HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.2371+2760T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185973253 | ||||||
| chr1:185973961
|
A | T | 2 | a0001c0001t0002g0089a0001c0001t0002g0090 | 2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2371+3468A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185973961 | ||||||
| chr1:185974172
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2372-3615A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185974172 | ||||||
| chr1:185974327
|
T | A | 33 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.2372-3460T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185974327 | ||||||
| chr1:185974353
|
A | C | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2372-3434A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185974353 | ||||||
| chr1:185974548
|
G | C | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2372-3239G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185974548 | ||||||
| chr1:185974787
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2372-3000T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185974787 | ||||||
| chr1:185975182
|
G | A | 22 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01192.hp2 others(19): Show |
intron_variant | MODIFIER | c.2372-2605G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975182 | ||||||
| chr1:185975360
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2372-2427T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975360 | ||||||
| chr1:185975395
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2372-2392A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975395 | ||||||
| chr1:185975596
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2372-2191A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975596 | ||||||
| chr1:185975650
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2372-2137T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975650 | ||||||
| chr1:185975803
|
CAATA | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2372-1974_2372-197 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | INFO_REALIGN_3_PRIME | chr1 | 185975803 | |||||
| chr1:185975887
|
G | GAC | 5 | a0009c0050t0002g0048a0010c0051t0001g0047a0013c0011t0004g0057others(2): Show | 5 | HG02258.hp1 HG02622.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.2372-1881_2372-188 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | INFO_REALIGN_3_PRIME | chr1 | 185975887 | |||||
| chr1:185975955
|
A | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2372-1832A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185975955 | ||||||
| chr1:185976144
|
G | C | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2372-1643G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185976144 | ||||||
| chr1:185976277
|
G | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2372-1510G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185976277 | ||||||
| chr1:185976865
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2372-922A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185976865 | ||||||
| chr1:185977066
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2372-721C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977066 | ||||||
| chr1:185977277
|
A | C | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2372-510A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977277 | ||||||
| chr1:185977368
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2372-419T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977368 | ||||||
| chr1:185977574
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2372-213T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977574 | ||||||
| chr1:185977720
|
T | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2372-67T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977720 | ||||||
| chr1:185977729
|
G | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2372-58G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977729 | ||||||
| chr1:185977784
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | splice_region_variant&intron_variant | LOW | c.2372-3C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 15/106 | chr1 | 185977784 | ||||||
| chr1:185978025
|
G | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2566+44G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185978025 | ||||||
| chr1:185978268
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2566+287T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185978268 | ||||||
| chr1:185978771
|
C | T | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2566+790C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185978771 | ||||||
| chr1:185978960
|
C | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2566+979C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185978960 | ||||||
| chr1:185979122
|
A | G | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2566+1141A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979122 | ||||||
| chr1:185979138
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2566+1157A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979138 | ||||||
| chr1:185979463
|
A | G | 8 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0002g0032others(5): Show | 8 | HG00639.hp1 HG01069.hp2 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.2566+1482A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979463 | ||||||
| chr1:185979497
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-1481C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979497 | ||||||
| chr1:185979818
|
G | A | 3 | a0001c0001t0001g0010a0001c0001t0002g0032a0037c0038t0001g0038 | 3 | HG00639.hp1 HG01069.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.2567-1160G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979818 | ||||||
| chr1:185979901
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-1077C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185979901 | ||||||
| chr1:185980054
|
T | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2567-924T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980054 | ||||||
| chr1:185980128
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-850G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980128 | ||||||
| chr1:185980414
|
C | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-564C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980414 | ||||||
| chr1:185980494
|
G | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-484G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980494 | ||||||
| chr1:185980581
|
ACTTCTAA others(4): Show |
A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2567-396_2567-386d others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980581 | ||||||
| chr1:185980691
|
A | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-287A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980691 | ||||||
| chr1:185980702
|
C | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2567-276C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980702 | ||||||
| chr1:185980778
|
T | C | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2567-200T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 16/106 | chr1 | 185980778 | ||||||
| chr1:185981094
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2662+21A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981094 | ||||||
| chr1:185981157
|
TA | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2662+93delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | INFO_REALIGN_3_PRIME | chr1 | 185981157 | |||||
| chr1:185981193
|
C | G | 10 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(7): Show | 10 | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2662+120C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981193 | ||||||
| chr1:185981251
|
C | T | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2662+178C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981251 | ||||||
| chr1:185981297
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2662+224A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981297 | ||||||
| chr1:185981326
|
GCACA | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2662+272_2662+275d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | INFO_REALIGN_3_PRIME | chr1 | 185981326 | |||||
| chr1:185981331
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2662+258C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981331 | ||||||
| chr1:185981440
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2662+367A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981440 | ||||||
| chr1:185981685
|
T | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2663-577T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981685 | ||||||
| chr1:185981756
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2663-506T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981756 | ||||||
| chr1:185981831
|
A | C | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.2663-431A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981831 | ||||||
| chr1:185981911
|
T | C | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2663-351T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 17/106 | chr1 | 185981911 | ||||||
| chr1:185982472
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2790+83A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185982472 | ||||||
| chr1:185982580
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2790+191C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185982580 | ||||||
| chr1:185982668
|
T | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2790+279T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185982668 | ||||||
| chr1:185982984
|
A | C | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2790+595A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185982984 | ||||||
| chr1:185982991
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2790+602G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185982991 | ||||||
| chr1:185983129
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2790+740T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983129 | ||||||
| chr1:185983166
|
G | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2790+777G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983166 | ||||||
| chr1:185983184
|
T | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2790+795T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983184 | ||||||
| chr1:185983382
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2791-787T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983382 | ||||||
| chr1:185983420
|
C | T | 11 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(8): Show | 11 | HG01099.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.2791-749C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983420 | ||||||
| chr1:185983685
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2791-484A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983685 | ||||||
| chr1:185983736
|
T | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.2791-433T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983736 | ||||||
| chr1:185983826
|
C | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2791-343C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185983826 | ||||||
| chr1:185984049
|
G | C | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2791-120G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 18/106 | chr1 | 185984049 | ||||||
| chr1:185984577
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2935+264T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185984577 | ||||||
| chr1:185984802
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2935+489G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185984802 | ||||||
| chr1:185985188
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2935+875G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185985188 | ||||||
| chr1:185985188
|
G | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2935+875G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185985188 | ||||||
| chr1:185985528
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2935+1215G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185985528 | ||||||
| chr1:185985613
|
A | G | 6 | a0011c0008t0001g0069a0011c0008t0001g0070a0016c0047t0001g0081others(3): Show | 6 | HG01192.hp2 HG01891.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.2935+1300A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185985613 | ||||||
| chr1:185986160
|
G | T | 5 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(2): Show | 5 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2936-1272G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986160 | ||||||
| chr1:185986164
|
G | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2936-1268G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986164 | ||||||
| chr1:185986253
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2936-1179G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986253 | ||||||
| chr1:185986285
|
A | G | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2936-1147A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986285 | ||||||
| chr1:185986801
|
T | C | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.2936-631T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986801 | ||||||
| chr1:185986826
|
C | CA | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.2936-588dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | INFO_REALIGN_3_PRIME | chr1 | 185986826 | |||||
| chr1:185986826
|
CA | C | 10 | a0001c0001t0001g0052a0009c0050t0002g0048a0010c0051t0001g0047others(7): Show | 10 | HG00323.hp1 HG02258.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.2936-588delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | INFO_REALIGN_3_PRIME | chr1 | 185986826 | |||||
| chr1:185986862
|
T | TAAATA | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.2936-566_2936-565i others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | INFO_REALIGN_3_PRIME | chr1 | 185986862 | |||||
| chr1:185986867
|
T | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.2936-565T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986867 | ||||||
| chr1:185986931
|
A | T | 11 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(8): Show | 11 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.2936-501A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986931 | ||||||
| chr1:185986958
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2936-474C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185986958 | ||||||
| chr1:185987192
|
A | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2936-240A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185987192 | ||||||
| chr1:185987328
|
A | G | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2936-104A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 19/106 | chr1 | 185987328 | ||||||
| chr1:185987858
|
C | CAAA | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3048+325_3048+327d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | INFO_REALIGN_3_PRIME | chr1 | 185987858 | |||||
| chr1:185987918
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3048+374A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185987918 | ||||||
| chr1:185988056
|
T | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3048+512T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185988056 | ||||||
| chr1:185988166
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3048+622G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185988166 | ||||||
| chr1:185988966
|
A | G | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3049-522A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185988966 | ||||||
| chr1:185988979
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3049-509G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185988979 | ||||||
| chr1:185989005
|
C | CT | 39 | a0001c0001t0001g0052a0001c0001t0001g0078a0001c0001t0001g0083others(36): Show | 39 | HG01069.hp1 HG01069.hp2 HG01192.hp2 others(36): Show |
intron_variant | MODIFIER | c.3049-463dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | INFO_REALIGN_3_PRIME | chr1 | 185989005 | |||||
| chr1:185989100
|
C | T | 2 | a0021c0057t0001g0019a0045c0026t0001g0022 | 2 | HG02451.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3049-388C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989100 | ||||||
| chr1:185989132
|
C | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3049-356C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989132 | ||||||
| chr1:185989163
|
T | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3049-325T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989163 | ||||||
| chr1:185989208
|
C | CCCGTTAG others(5): Show |
2 | a0001c0001t0001g0052a0040c0034t0001g0031 | 2 | NA18960.hp1 NA18960.hp2 |
intron_variant | MODIFIER | c.3049-280_3049-279i others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989208 | ||||||
| chr1:185989209
|
G | A | 2 | a0001c0001t0001g0052a0040c0034t0001g0031 | 2 | NA18960.hp1 NA18960.hp2 |
intron_variant | MODIFIER | c.3049-279G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989209 | ||||||
| chr1:185989258
|
G | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3049-230G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989258 | ||||||
| chr1:185989392
|
T | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3049-96T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | chr1 | 185989392 | ||||||
| chr1:185989454
|
CAAAA | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3049-31_3049-28del others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 20/106 | INFO_REALIGN_3_PRIME | chr1 | 185989454 | |||||
| chr1:185989765
|
G | A | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3208+118G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | chr1 | 185989765 | ||||||
| chr1:185989772
|
AT | A | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG01099.hp2 HG01192.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.3208+146delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | INFO_REALIGN_3_PRIME | chr1 | 185989772 | |||||
| chr1:185989772
|
ATTT | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3208+144_3208+146d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | INFO_REALIGN_3_PRIME | chr1 | 185989772 | |||||
| chr1:185989820
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3208+173C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | chr1 | 185989820 | ||||||
| chr1:185989866
|
T | G | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3208+219T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | chr1 | 185989866 | ||||||
| chr1:185990061
|
T | C | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3209-214T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 21/106 | chr1 | 185990061 | ||||||
| chr1:185990642
|
C | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3377+199C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185990642 | ||||||
| chr1:185990768
|
G | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3377+325G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185990768 | ||||||
| chr1:185991216
|
T | C | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.3377+773T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991216 | ||||||
| chr1:185991406
|
A | C | 1 | a0024c0044t0003g0071 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.3377+963A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991406 | ||||||
| chr1:185991712
|
T | A | 5 | a0001c0001t0001g0078a0001c0001t0001g0087a0008c0009t0001g0084others(2): Show | 5 | HG01069.hp1 HG02280.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.3377+1269T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991712 | ||||||
| chr1:185991712
|
TA | T | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.3377+1280delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | INFO_REALIGN_3_PRIME | chr1 | 185991712 | |||||
| chr1:185991713
|
A | T | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.3377+1270A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991713 | ||||||
| chr1:185991714
|
A | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3377+1271A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991714 | ||||||
| chr1:185991851
|
T | C | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3378-1331T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185991851 | ||||||
| chr1:185992497
|
A | G | 2 | a0009c0050t0002g0048a0010c0051t0001g0047 | 2 | HG02622.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.3378-685A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185992497 | ||||||
| chr1:185992670
|
G | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3378-512G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185992670 | ||||||
| chr1:185993128
|
G | A | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3378-54G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 22/106 | chr1 | 185993128 | ||||||
| chr1:185993512
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3505+203C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185993512 | ||||||
| chr1:185993559
|
T | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3505+250T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185993559 | ||||||
| chr1:185993621
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3505+312G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185993621 | ||||||
| chr1:185994316
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3506-499G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185994316 | ||||||
| chr1:185994502
|
G | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3506-313G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185994502 | ||||||
| chr1:185994591
|
T | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3506-224T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185994591 | ||||||
| chr1:185994721
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3506-94C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 23/106 | chr1 | 185994721 | ||||||
| chr1:185995555
|
C | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3778+468C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185995555 | ||||||
| chr1:185995556
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3778+469A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185995556 | ||||||
| chr1:185995921
|
G | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3778+834G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185995921 | ||||||
| chr1:185996033
|
A | G | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3778+946A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996033 | ||||||
| chr1:185996072
|
T | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3778+985T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996072 | ||||||
| chr1:185996120
|
C | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3778+1033C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996120 | ||||||
| chr1:185996322
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3779-1107G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996322 | ||||||
| chr1:185996538
|
G | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3779-891G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996538 | ||||||
| chr1:185996741
|
G | A | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3779-688G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185996741 | ||||||
| chr1:185997310
|
T | C | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3779-119T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185997310 | ||||||
| chr1:185997337
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3779-92G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 24/106 | chr1 | 185997337 | ||||||
| chr1:185997732
|
A | G | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3874+208A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185997732 | ||||||
| chr1:185997735
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.3874+211C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185997735 | ||||||
| chr1:185997810
|
C | CT | 15 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0004t0002g0023others(12): Show | 15 | HG00323.hp1 HG02451.hp2 HG02809.hp2 others(12): Show |
intron_variant | MODIFIER | c.3874+299dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | 185997810 | |||||
| chr1:185997810
|
CTTT | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874+297_3874+299d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | 185997810 | |||||
| chr1:185997810
|
CTTTT | C | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3874+296_3874+299d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | 185997810 | |||||
| chr1:185997857
|
G | A | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3874+333G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185997857 | ||||||
| chr1:185997891
|
G | A | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3874+367G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185997891 | ||||||
| chr1:185998042
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3874+518G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998042 | ||||||
| chr1:185998148
|
T | G | 1 | a0029c0022t0001g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3874+624T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998148 | ||||||
| chr1:185998212
|
T | C | 1 | a0013c0011t0004g0057 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3874+688T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998212 | ||||||
| chr1:185998565
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874+1041C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998565 | ||||||
| chr1:185998648
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3874+1124C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998648 | ||||||
| chr1:185998775
|
G | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3874+1251G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998775 | ||||||
| chr1:185998797
|
T | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-1248T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998797 | ||||||
| chr1:185998801
|
G | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3875-1244G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185998801 | ||||||
| chr1:185999038
|
A | G | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3875-1007A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999038 | ||||||
| chr1:185999128
|
TTA | T | 18 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(15): Show | 18 | HG00323.hp1 HG01069.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.3875-905_3875-904d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | 185999128 | |||||
| chr1:185999181
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3875-864T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999181 | ||||||
| chr1:185999252
|
G | A | 11 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(8): Show | 11 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-793G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999252 | ||||||
| chr1:185999310
|
T | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.3875-735T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999310 | ||||||
| chr1:185999456
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3875-589A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999456 | ||||||
| chr1:185999462
|
A | ATTTGTCT others(6): Show |
9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.3875-580_3875-579i others(15): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | INFO_REALIGN_3_PRIME | chr1 | 185999462 | |||||
| chr1:185999584
|
G | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.3875-461G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999584 | ||||||
| chr1:185999744
|
T | C | 11 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(8): Show | 11 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.3875-301T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999744 | ||||||
| chr1:185999956
|
C | T | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.3875-89C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 25/106 | chr1 | 185999956 | ||||||
| chr1:186000318
|
A | G | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4069+79A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000318 | ||||||
| chr1:186000522
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4069+283G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000522 | ||||||
| chr1:186000559
|
A | ATG | 18 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(15): Show | 18 | HG00323.hp2 HG00735.hp1 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.4069+352_4069+353d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
A | ATGTG | 28 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0078others(25): Show | 28 | HG00639.hp1 HG00639.hp2 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.4069+350_4069+353d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
A | ATGTGTG | 2 | a0040c0034t0001g0031a0047c0014t0001g0055 | 2 | HG02055.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.4069+348_4069+353d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
A | ATGTGTGT others(1): Show |
9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.4069+346_4069+353d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
A | ATGTGTGT others(3): Show |
1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4069+344_4069+353d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
A | ATGTGTGT others(5): Show |
1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4069+342_4069+353d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
ATGTGTGT others(3): Show |
A | 4 | a0008c0009t0001g0084a0008c0009t0002g0085a0013c0011t0004g0057others(1): Show | 4 | HG01069.hp1 HG02258.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4069+344_4069+353d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000559
|
ATGTGTGT others(5): Show |
A | 7 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(4): Show | 7 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.4069+342_4069+353d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | INFO_REALIGN_3_PRIME | chr1 | 186000559 | |||||
| chr1:186000561
|
G | A | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4069+322G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000561 | ||||||
| chr1:186000601
|
G | A | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.4069+362G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000601 | ||||||
| chr1:186000608
|
C | T | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.4069+369C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000608 | ||||||
| chr1:186000790
|
C | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4070-508C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000790 | ||||||
| chr1:186000896
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4070-402A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186000896 | ||||||
| chr1:186001053
|
T | C | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4070-245T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186001053 | ||||||
| chr1:186001094
|
A | C | 1 | a0009c0050t0002g0048 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4070-204A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 26/106 | chr1 | 186001094 | ||||||
| chr1:186001818
|
G | C | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4348+77G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186001818 | ||||||
| chr1:186001906
|
A | G | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4348+165A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186001906 | ||||||
| chr1:186002071
|
T | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4348+330T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002071 | ||||||
| chr1:186002112
|
G | T | 1 | a0002c0007t0002g0029 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4348+371G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002112 | ||||||
| chr1:186002331
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4348+590C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002331 | ||||||
| chr1:186002463
|
A | G | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4348+722A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002463 | ||||||
| chr1:186002562
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4348+821C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002562 | ||||||
| chr1:186002578
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4348+837A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002578 | ||||||
| chr1:186002596
|
A | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4348+855A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002596 | ||||||
| chr1:186002600
|
C | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.4348+859C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002600 | ||||||
| chr1:186002721
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4348+980G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002721 | ||||||
| chr1:186002794
|
C | A | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.4349-924C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002794 | ||||||
| chr1:186002838
|
G | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4349-880G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186002838 | ||||||
| chr1:186003244
|
A | C | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4349-474A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186003244 | ||||||
| chr1:186003474
|
C | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4349-244C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186003474 | ||||||
| chr1:186003695
|
A | C | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4349-23A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 28/106 | chr1 | 186003695 | ||||||
| chr1:186003853
|
C | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4475+9C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186003853 | ||||||
| chr1:186003976
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4475+132A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186003976 | ||||||
| chr1:186004290
|
G | A | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4475+446G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186004290 | ||||||
| chr1:186004447
|
A | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4475+603A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186004447 | ||||||
| chr1:186004828
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4475+984G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186004828 | ||||||
| chr1:186004894
|
A | G | 1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4475+1050A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186004894 | ||||||
| chr1:186004900
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4475+1056A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186004900 | ||||||
| chr1:186005018
|
T | TA | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4475+1175dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005018 | |||||
| chr1:186005102
|
A | AAATTGTT others(25): Show |
11 | a0001c0035t0001g0020a0003c0003t0001g0051a0006c0006t0005g0080others(8): Show | 11 | HG00639.hp2 HG00735.hp1 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.4475+1368_4475+139 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005102 | |||||
| chr1:186005102
|
A | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4475+1258A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005102 | ||||||
| chr1:186005102
|
AAATTGTT others(226): Show |
A | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.4475+1317_4475+154 others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005102 | |||||
| chr1:186005116
|
T | C | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4475+1272T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005116 | ||||||
| chr1:186005134
|
T | TAATTGTT others(2): Show |
2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4475+1291_4475+129 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005134 | |||||
| chr1:186005134
|
TAATTGTT others(162): Show |
T | 3 | a0001c0001t0001g0052a0001c0001t0002g0004a0043c0025t0001g0007 | 3 | HG02615.hp2 HG03017.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.4475+1381_4475+154 others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005134 | |||||
| chr1:186005151
|
T | C | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.4475+1307T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005151 | ||||||
| chr1:186005180
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4475+1336T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005180 | ||||||
| chr1:186005193
|
T | A | 2 | a0014c0013t0001g0056a0015c0012t0008g0001 | 2 | HG00323.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4475+1349T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005193 | ||||||
| chr1:186005212
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4475+1368T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005212 | ||||||
| chr1:186005212
|
TGTTTATA others(25): Show |
T | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4475+1381_4475+141 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005212 | |||||
| chr1:186005225
|
T | A | 3 | a0001c0001t0002g0032a0014c0013t0001g0056a0015c0012t0008g0001 | 3 | HG00323.hp1 HG01069.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.4475+1381T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005225 | ||||||
| chr1:186005225
|
TTTTTTAA others(25): Show |
T | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.4475+1400_4475+143 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005225 | |||||
| chr1:186005244
|
C | T | 82 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(79): Show | 82 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.4475+1400C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005244 | ||||||
| chr1:186005257
|
A | T | 19 | a0001c0001t0001g0087a0005c0005t0003g0011a0005c0005t0003g0012others(16): Show | 19 | HG01069.hp1 HG01074.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.4475+1413A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005257 | ||||||
| chr1:186005276
|
T | C | 1 | a0013c0011t0004g0057 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4475+1432T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005276 | ||||||
| chr1:186005287
|
A | AATTTTTT others(88): Show |
1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4475+1444_4475+144 others(99): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005287 | |||||
| chr1:186005287
|
A | AATTTTTT others(120): Show |
1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4475+1444_4475+144 others(131): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005287 | |||||
| chr1:186005287
|
A | AATTTTTT others(152): Show |
1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4475+1444_4475+144 others(163): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005287 | |||||
| chr1:186005287
|
A | AATTTTTT others(184): Show |
1 | a0010c0053t0001g0079 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4475+1444_4475+144 others(195): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005287 | |||||
| chr1:186005289
|
A | T | 8 | a0001c0001t0002g0032a0005c0005t0003g0011a0005c0005t0003g0012others(5): Show | 8 | HG01069.hp2 HG01243.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.4475+1445A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005289 | ||||||
| chr1:186005294
|
TAATTGTT others(2): Show |
T | 9 | a0001c0001t0002g0032a0005c0005t0003g0011a0005c0005t0003g0012others(6): Show | 9 | HG01069.hp2 HG01074.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.4475+1460_4475+146 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005294 | |||||
| chr1:186005303
|
A | AAATTGTT others(25): Show |
2 | a0003c0018t0002g0046a0009c0050t0002g0048 | 2 | HG02622.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.4475+1518_4475+154 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005303 | |||||
| chr1:186005303
|
A | ATAAACGT others(208): Show |
1 | a0013c0011t0004g0057 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4475+1459_4475+146 others(219): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005303 | ||||||
| chr1:186005303
|
A | ATAAATGT others(16): Show |
1 | a0012c0016t0001g0044 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4475+1459_4475+146 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005303 | ||||||
| chr1:186005303
|
A | ATAAATGT others(16): Show |
1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4475+1459_4475+146 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005303 | ||||||
| chr1:186005303
|
A | ATAAATGT others(208): Show |
1 | a0013c0011t0004g0058 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.4475+1459_4475+146 others(219): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005303 | ||||||
| chr1:186005326
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4475+1482A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005326 | ||||||
| chr1:186005330
|
T | A | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4475+1486T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005330 | ||||||
| chr1:186005335
|
T | TAATTGTT others(2): Show |
2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4475+1492_4475+150 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005335 | |||||
| chr1:186005362
|
T | G | 5 | a0001c0001t0002g0032a0014c0013t0001g0056a0016c0047t0001g0081others(2): Show | 5 | HG01069.hp2 HG01891.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.4475+1518T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005362 | ||||||
| chr1:186005362
|
T | TTTTTTAA others(25): Show |
1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4475+1565_4475+159 others(36): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005362 | |||||
| chr1:186005362
|
T | TTTTTTAA others(57): Show |
1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4475+1549_4475+155 others(68): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005362 | |||||
| chr1:186005394
|
G | T | 10 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(7): Show | 10 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.4475+1550G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005394 | ||||||
| chr1:186005399
|
TAATTGTT others(34): Show |
T | 2 | a0015c0012t0008g0001a0018c0046t0001g0059 | 2 | HG00323.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.4476-1620_4476-158 others(45): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005399 | |||||
| chr1:186005426
|
G | T | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4475+1582G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005426 | ||||||
| chr1:186005431
|
TAATTGTT others(2): Show |
T | 3 | a0001c0001t0002g0042a0014c0013t0001g0056a0034c0031t0001g0006 | 3 | HG01074.hp2 HG02258.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.4475+1597_4475+160 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186005431 | |||||
| chr1:186005440
|
A | ATAAATGT others(57): Show |
3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4475+1596_4475+159 others(68): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005440 | ||||||
| chr1:186005440
|
A | ATAAATGT others(89): Show |
2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4475+1596_4475+159 others(100): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005440 | ||||||
| chr1:186005467
|
G | T | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4475+1623G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005467 | ||||||
| chr1:186005515
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4476-1613A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005515 | ||||||
| chr1:186005549
|
T | G | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4476-1579T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005549 | ||||||
| chr1:186005698
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4476-1430A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005698 | ||||||
| chr1:186005795
|
C | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4476-1333C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005795 | ||||||
| chr1:186005865
|
G | A | 4 | a0001c0015t0001g0045a0003c0003t0001g0054a0003c0003t0001g0063others(1): Show | 4 | HG00735.hp2 HG01192.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.4476-1263G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005865 | ||||||
| chr1:186005910
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4476-1218C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186005910 | ||||||
| chr1:186006051
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4476-1077G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186006051 | ||||||
| chr1:186006136
|
C | CA | 6 | a0001c0001t0001g0091a0003c0003t0001g0063a0005c0005t0003g0012others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.4476-975dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | INFO_REALIGN_3_PRIME | chr1 | 186006136 | |||||
| chr1:186006626
|
G | A | 9 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(6): Show | 9 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.4476-502G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186006626 | ||||||
| chr1:186006721
|
G | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4476-407G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186006721 | ||||||
| chr1:186007090
|
G | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4476-38G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186007090 | ||||||
| chr1:186007112
|
G | A | 29 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(26): Show | 29 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.4476-16G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | 186007112 | ||||||
| chr1:186007290
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | splice_region_variant&intron_variant | LOW | c.4630+8C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186007290 | ||||||
| chr1:186007790
|
G | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4630+508G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186007790 | ||||||
| chr1:186007817
|
C | T | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4630+535C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186007817 | ||||||
| chr1:186007865
|
G | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4630+583G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186007865 | ||||||
| chr1:186007923
|
A | G | 15 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(12): Show | 15 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.4630+641A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186007923 | ||||||
| chr1:186008034
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4630+752A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008034 | ||||||
| chr1:186008036
|
A | G | 3 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0027t0002g0088 | 3 | HG01891.hp2 HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.4630+754A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008036 | ||||||
| chr1:186008167
|
T | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4630+885T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008167 | ||||||
| chr1:186008522
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4630+1240C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008522 | ||||||
| chr1:186008552
|
A | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.4630+1270A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008552 | ||||||
| chr1:186008567
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4630+1285G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008567 | ||||||
| chr1:186008643
|
C | T | 6 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0050t0002g0048others(3): Show | 6 | HG02109.hp1 HG02615.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.4630+1361C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008643 | ||||||
| chr1:186008738
|
G | C | 10 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(7): Show | 10 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.4630+1456G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186008738 | ||||||
| chr1:186009376
|
T | C | 5 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0002g0029others(2): Show | 5 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.4630+2094T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186009376 | ||||||
| chr1:186009377
|
G | A | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4630+2095G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186009377 | ||||||
| chr1:186010059
|
C | T | 15 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(12): Show | 15 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.4630+2777C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186010059 | ||||||
| chr1:186010166
|
G | C | 21 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(18): Show | 21 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.4630+2884G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186010166 | ||||||
| chr1:186010218
|
T | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4630+2936T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186010218 | ||||||
| chr1:186010395
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4630+3113T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186010395 | ||||||
| chr1:186010782
|
T | A | 4 | a0007c0010t0001g0005a0007c0010t0002g0003a0009c0052t0002g0077others(1): Show | 4 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.4630+3500T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186010782 | ||||||
| chr1:186011034
|
G | GT | 85 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(82): Show | 85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.4630+3760dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | INFO_REALIGN_3_PRIME | chr1 | 186011034 | |||||
| chr1:186011037
|
T | TG | 4 | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0027t0002g0088others(1): Show | 4 | HG01891.hp2 HG02055.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.4630+3755_4630+375 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186011037 | ||||||
| chr1:186011101
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.4630+3819A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186011101 | ||||||
| chr1:186011512
|
T | G | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4631-3647T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186011512 | ||||||
| chr1:186011543
|
G | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4631-3616G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186011543 | ||||||
| chr1:186011989
|
G | A | 4 | a0002c0004t0001g0030a0002c0007t0002g0025a0002c0007t0006g0028others(1): Show | 4 | HG02809.hp2 HG02922.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.4631-3170G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186011989 | ||||||
| chr1:186012089
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.4631-3070A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012089 | ||||||
| chr1:186012125
|
G | GA | 22 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(19): Show | 22 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.4631-3033dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | INFO_REALIGN_3_PRIME | chr1 | 186012125 | |||||
| chr1:186012214
|
A | T | 9 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0002g0042others(6): Show | 9 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.4631-2945A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012214 | ||||||
| chr1:186012218
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4631-2941G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012218 | ||||||
| chr1:186012226
|
C | CT | 4 | a0001c0001t0002g0042a0007c0010t0001g0005a0007c0010t0002g0003others(1): Show | 4 | HG01074.hp2 HG02109.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.4631-2922dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | INFO_REALIGN_3_PRIME | chr1 | 186012226 | |||||
| chr1:186012348
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.4631-2811G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012348 | ||||||
| chr1:186012390
|
T | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4631-2769T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012390 | ||||||
| chr1:186012421
|
T | C | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.4631-2738T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012421 | ||||||
| chr1:186012921
|
T | A | 17 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(14): Show | 17 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.4631-2238T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186012921 | ||||||
| chr1:186013081
|
CA | C | 20 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(17): Show | 20 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4631-2074delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | INFO_REALIGN_3_PRIME | chr1 | 186013081 | |||||
| chr1:186013250
|
A | G | 20 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(17): Show | 20 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4631-1909A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186013250 | ||||||
| chr1:186013393
|
T | G | 20 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(17): Show | 20 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.4631-1766T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186013393 | ||||||
| chr1:186013793
|
A | T | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.4631-1366A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186013793 | ||||||
| chr1:186013884
|
C | A | 21 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(18): Show | 21 | HG00323.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.4631-1275C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186013884 | ||||||
| chr1:186013979
|
G | C | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4631-1180G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186013979 | ||||||
| chr1:186014067
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4631-1092G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186014067 | ||||||
| chr1:186014665
|
C | T | 1 | a0002c0004t0002g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4631-494C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186014665 | ||||||
| chr1:186014668
|
C | G | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4631-491C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186014668 | ||||||
| chr1:186014800
|
T | A | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4631-359T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186014800 | ||||||
| chr1:186014887
|
T | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.4631-272T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 30/106 | chr1 | 186014887 | ||||||
| chr1:186015744
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4910-214C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 31/106 | chr1 | 186015744 | ||||||
| chr1:186015884
|
CT | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4910-72delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 31/106 | INFO_REALIGN_3_PRIME | chr1 | 186015884 | |||||
| chr1:186016394
|
G | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.5191+155G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 32/106 | chr1 | 186016394 | ||||||
| chr1:186016620
|
T | C | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.5192-343T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 32/106 | chr1 | 186016620 | ||||||
| chr1:186016799
|
C | G | 21 | a0001c0015t0001g0045a0003c0003t0001g0039a0003c0003t0001g0051others(18): Show | 21 | HG00323.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.5192-164C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 32/106 | chr1 | 186016799 | ||||||
| chr1:186017107
|
C | T | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5300+36C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017107 | ||||||
| chr1:186017176
|
T | C | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5300+105T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017176 | ||||||
| chr1:186017484
|
AT | A | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(1): Show | 4 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.5300+421delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | INFO_REALIGN_3_PRIME | chr1 | 186017484 | |||||
| chr1:186017689
|
T | C | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.5301-494T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017689 | ||||||
| chr1:186017780
|
A | G | 6 | a0001c0035t0001g0020a0006c0006t0005g0080a0033c0029t0001g0009others(3): Show | 6 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.5301-403A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017780 | ||||||
| chr1:186017789
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5301-394T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017789 | ||||||
| chr1:186017854
|
A | T | 2 | a0028c0020t0002g0068a0029c0022t0001g0092 | 2 | HG02723.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.5301-329A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186017854 | ||||||
| chr1:186018020
|
G | A | 10 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(7): Show | 10 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.5301-163G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 33/106 | chr1 | 186018020 | ||||||
| chr1:186018680
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5470+328A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | chr1 | 186018680 | ||||||
| chr1:186018704
|
A | C | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.5470+352A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | chr1 | 186018704 | ||||||
| chr1:186018724
|
G | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5470+372G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | chr1 | 186018724 | ||||||
| chr1:186019211
|
A | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.5471-330A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | chr1 | 186019211 | ||||||
| chr1:186019435
|
CT | C | 56 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(53): Show | 56 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.5471-95delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | INFO_REALIGN_3_PRIME | chr1 | 186019435 | |||||
| chr1:186019491
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5471-50C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 34/106 | chr1 | 186019491 | ||||||
| chr1:186020168
|
G | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5625+473G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020168 | ||||||
| chr1:186020237
|
T | TCATAGAT others(9): Show |
1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5625+542_5625+543i others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020237 | ||||||
| chr1:186020237
|
T | TGATA | 5 | a0001c0001t0001g0052a0002c0004t0001g0050a0005c0005t0003g0061others(2): Show | 5 | HG01069.hp1 HG02055.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.5625+570_5625+573d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186020237 | |||||
| chr1:186020237
|
T | TGATAGAT others(1): Show |
36 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0078others(33): Show | 36 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.5625+566_5625+573d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186020237 | |||||
| chr1:186020237
|
T | TGATAGAT others(5): Show |
22 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0002g0089others(19): Show | 22 | HG00323.hp1 HG00639.hp2 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.5625+562_5625+573d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186020237 | |||||
| chr1:186020237
|
T | TGATAGAT others(9): Show |
5 | a0001c0001t0002g0090a0002c0007t0002g0029a0009c0052t0002g0077others(2): Show | 5 | HG01891.hp2 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.5625+558_5625+573d others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186020237 | |||||
| chr1:186020237
|
T | TGATAGAT others(13): Show |
1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5625+554_5625+573d others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186020237 | |||||
| chr1:186020273
|
G | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5625+578G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020273 | ||||||
| chr1:186020588
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5625+893T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020588 | ||||||
| chr1:186020596
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5625+901C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020596 | ||||||
| chr1:186020621
|
C | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.5625+926C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020621 | ||||||
| chr1:186020789
|
AG | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5625+1095delG | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186020789 | ||||||
| chr1:186021097
|
A | G | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.5625+1402A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021097 | ||||||
| chr1:186021179
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5625+1484G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021179 | ||||||
| chr1:186021355
|
G | A | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5625+1660G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021355 | ||||||
| chr1:186021480
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5626-1550G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021480 | ||||||
| chr1:186021512
|
T | C | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.5626-1518T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021512 | ||||||
| chr1:186021535
|
TAGTTCGA others(18): Show |
T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5626-1494_5626-147 others(29): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021535 | ||||||
| chr1:186021696
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5626-1334G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021696 | ||||||
| chr1:186021750
|
A | G | 75 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(72): Show | 75 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.5626-1280A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021750 | ||||||
| chr1:186021757
|
G | A | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5626-1273G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186021757 | ||||||
| chr1:186022305
|
TCTC | T | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5626-722_5626-720d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | INFO_REALIGN_3_PRIME | chr1 | 186022305 | |||||
| chr1:186022401
|
A | G | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5626-629A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186022401 | ||||||
| chr1:186022733
|
T | G | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.5626-297T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186022733 | ||||||
| chr1:186022791
|
C | T | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5626-239C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 35/106 | chr1 | 186022791 | ||||||
| chr1:186023288
|
G | GT | 7 | a0005c0005t0003g0061a0007c0010t0001g0005a0007c0010t0002g0003others(4): Show | 7 | HG00323.hp1 HG02055.hp1 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.5749+151dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186023288 | |||||
| chr1:186023288
|
GT | G | 4 | a0002c0004t0001g0030a0002c0004t0002g0024a0002c0007t0006g0028others(1): Show | 4 | HG01516.hp2 HG02809.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.5749+151delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186023288 | |||||
| chr1:186023526
|
A | C | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.5749+373A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186023526 | ||||||
| chr1:186023605
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+452A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186023605 | ||||||
| chr1:186023938
|
G | C | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.5749+785G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186023938 | ||||||
| chr1:186024196
|
C | T | 68 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(65): Show | 68 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(65): Show |
intron_variant | MODIFIER | c.5749+1043C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024196 | ||||||
| chr1:186024297
|
G | A | 2 | a0028c0020t0002g0068a0029c0022t0001g0092 | 2 | HG02723.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.5749+1144G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024297 | ||||||
| chr1:186024348
|
G | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.5749+1195G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024348 | ||||||
| chr1:186024431
|
G | A | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.5749+1278G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024431 | ||||||
| chr1:186024652
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+1499C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024652 | ||||||
| chr1:186024800
|
T | C | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5749+1647T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186024800 | ||||||
| chr1:186025068
|
C | T | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.5749+1915C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186025068 | ||||||
| chr1:186025268
|
A | C | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.5749+2115A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186025268 | ||||||
| chr1:186025829
|
CTCAA | C | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5749+2680_5749+268 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186025829 | |||||
| chr1:186025891
|
A | G | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.5749+2738A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186025891 | ||||||
| chr1:186026011
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+2858G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186026011 | ||||||
| chr1:186026484
|
C | T | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.5749+3331C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186026484 | ||||||
| chr1:186027091
|
C | T | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5749+3938C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027091 | ||||||
| chr1:186027130
|
G | A | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(68): Show |
intron_variant | MODIFIER | c.5749+3977G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027130 | ||||||
| chr1:186027156
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+4003C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027156 | ||||||
| chr1:186027181
|
A | G | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.5749+4028A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027181 | ||||||
| chr1:186027764
|
T | C | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5749+4611T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027764 | ||||||
| chr1:186027954
|
G | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5749+4801G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027954 | ||||||
| chr1:186027980
|
T | A | 2 | a0030c0021t0001g0067a0046c0042t0001g0043 | 2 | HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.5749+4827T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186027980 | ||||||
| chr1:186028044
|
A | C | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.5749+4891A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028044 | ||||||
| chr1:186028051
|
C | G | 57 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(54): Show | 57 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(54): Show |
intron_variant | MODIFIER | c.5749+4898C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028051 | ||||||
| chr1:186028078
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+4925A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028078 | ||||||
| chr1:186028087
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+4934A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028087 | ||||||
| chr1:186028124
|
A | C | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5749+4971A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028124 | ||||||
| chr1:186028184
|
G | A | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5749+5031G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028184 | ||||||
| chr1:186028185
|
C | A | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5749+5032C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028185 | ||||||
| chr1:186028195
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+5042G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028195 | ||||||
| chr1:186028479
|
C | T | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.5749+5326C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028479 | ||||||
| chr1:186028627
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.5749+5474A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028627 | ||||||
| chr1:186028645
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5749+5492A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028645 | ||||||
| chr1:186028664
|
C | A | 2 | a0005c0005t0003g0011a0005c0005t0003g0012 | 2 | HG01243.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5749+5511C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028664 | ||||||
| chr1:186028725
|
A | AT | 56 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0075others(53): Show | 56 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.5749+5589dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186028725 | |||||
| chr1:186028725
|
A | ATT | 10 | a0001c0001t0001g0035a0001c0001t0001g0082a0002c0007t0002g0025others(7): Show | 10 | HG02040.hp2 HG02622.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.5749+5588_5749+558 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186028725 | |||||
| chr1:186028725
|
ATT | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.5749+5588_5749+558 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186028725 | |||||
| chr1:186028747
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5749+5594C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028747 | ||||||
| chr1:186028795
|
G | C | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(1): Show | 4 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.5749+5642G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028795 | ||||||
| chr1:186028967
|
C | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.5749+5814C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186028967 | ||||||
| chr1:186029177
|
T | A | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.5749+6024T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186029177 | ||||||
| chr1:186029201
|
A | T | 2 | a0016c0047t0001g0081a0022c0049t0001g0037 | 2 | HG01891.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.5749+6048A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186029201 | ||||||
| chr1:186029235
|
C | CTA | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5749+6085_5749+608 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186029235 | |||||
| chr1:186029439
|
C | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5749+6286C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186029439 | ||||||
| chr1:186029539
|
G | GT | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5749+6398dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186029539 | |||||
| chr1:186029875
|
G | A | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.5749+6722G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186029875 | ||||||
| chr1:186029915
|
T | C | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5749+6762T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186029915 | ||||||
| chr1:186030202
|
G | T | 5 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(2): Show | 5 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.5749+7049G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030202 | ||||||
| chr1:186030310
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.5749+7157T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030310 | ||||||
| chr1:186030352
|
G | A | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.5749+7199G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030352 | ||||||
| chr1:186030380
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5749+7227C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030380 | ||||||
| chr1:186030428
|
T | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5749+7275T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030428 | ||||||
| chr1:186030445
|
T | G | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.5749+7292T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030445 | ||||||
| chr1:186030451
|
C | G | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5749+7298C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030451 | ||||||
| chr1:186030745
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.5750-7189C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030745 | ||||||
| chr1:186030842
|
G | A | 57 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(54): Show | 57 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(54): Show |
intron_variant | MODIFIER | c.5750-7092G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030842 | ||||||
| chr1:186030937
|
T | C | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-6997T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030937 | ||||||
| chr1:186030989
|
C | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5750-6945C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186030989 | ||||||
| chr1:186031444
|
C | T | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.5750-6490C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186031444 | ||||||
| chr1:186031641
|
T | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5750-6293T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186031641 | ||||||
| chr1:186031968
|
A | G | 1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.5750-5966A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186031968 | ||||||
| chr1:186032063
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5750-5871T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032063 | ||||||
| chr1:186032093
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5750-5841T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032093 | ||||||
| chr1:186032332
|
G | A | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.5750-5602G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032332 | ||||||
| chr1:186032420
|
C | T | 1 | a0002c0004t0002g0023 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5750-5514C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032420 | ||||||
| chr1:186032610
|
T | A | 2 | a0028c0020t0002g0068a0029c0022t0001g0092 | 2 | HG02723.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.5750-5324T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032610 | ||||||
| chr1:186032740
|
TAAAAAGA others(5): Show |
T | 56 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(53): Show | 56 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.5750-5178_5750-516 others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186032740 | |||||
| chr1:186032747
|
AAAAAAAA others(4): Show |
A | 1 | a0006c0006t0005g0080 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.5750-5177_5750-516 others(15): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186032747 | |||||
| chr1:186032828
|
G | C | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.5750-5106G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032828 | ||||||
| chr1:186032898
|
G | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.5750-5036G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032898 | ||||||
| chr1:186032978
|
G | A | 1 | a0003c0003t0001g0054 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5750-4956G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186032978 | ||||||
| chr1:186033063
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5750-4871C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033063 | ||||||
| chr1:186033064
|
G | GCA | 10 | a0003c0003t0001g0039a0003c0003t0001g0051a0011c0008t0001g0069others(7): Show | 10 | HG01192.hp2 HG01261.hp1 HG03017.hp2 others(7): Show |
intron_variant | MODIFIER | c.5750-4840_5750-483 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186033064 | |||||
| chr1:186033064
|
G | GCACA | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5750-4842_5750-483 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186033064 | |||||
| chr1:186033064
|
G | GCACACA | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.5750-4844_5750-483 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186033064 | |||||
| chr1:186033064
|
GCA | G | 22 | a0001c0015t0001g0045a0002c0004t0001g0030a0002c0004t0001g0050others(19): Show | 22 | HG01069.hp1 HG01192.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.5750-4840_5750-483 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186033064 | |||||
| chr1:186033066
|
A | G | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5750-4868A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033066 | ||||||
| chr1:186033397
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5750-4537T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033397 | ||||||
| chr1:186033532
|
T | C | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5750-4402T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033532 | ||||||
| chr1:186033607
|
T | TA | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5750-4319dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186033607 | |||||
| chr1:186033691
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.5750-4243G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033691 | ||||||
| chr1:186033958
|
A | T | 17 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0082others(14): Show | 17 | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.5750-3976A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186033958 | ||||||
| chr1:186034452
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5750-3482C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034452 | ||||||
| chr1:186034744
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5750-3190G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034744 | ||||||
| chr1:186034818
|
T | G | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5750-3116T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034818 | ||||||
| chr1:186034842
|
T | G | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5750-3092T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034842 | ||||||
| chr1:186034959
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.5750-2975T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034959 | ||||||
| chr1:186034963
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-2971A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186034963 | ||||||
| chr1:186035081
|
T | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.5750-2853T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035081 | ||||||
| chr1:186035336
|
C | A | 10 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(7): Show | 10 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.5750-2598C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035336 | ||||||
| chr1:186035475
|
G | A | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.5750-2459G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035475 | ||||||
| chr1:186035570
|
T | C | 1 | a0024c0044t0003g0071 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.5750-2364T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035570 | ||||||
| chr1:186035612
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-2322A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035612 | ||||||
| chr1:186035704
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5750-2230A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035704 | ||||||
| chr1:186035771
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5750-2163G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035771 | ||||||
| chr1:186035970
|
A | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-1964A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186035970 | ||||||
| chr1:186036141
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.5750-1793A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036141 | ||||||
| chr1:186036489
|
G | A | 58 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(55): Show | 58 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.5750-1445G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036489 | ||||||
| chr1:186036812
|
A | G | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.5750-1122A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036812 | ||||||
| chr1:186036868
|
G | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-1066G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036868 | ||||||
| chr1:186036887
|
G | A | 4 | a0011c0008t0001g0069a0011c0008t0001g0070a0024c0044t0003g0071others(1): Show | 4 | HG01192.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5750-1047G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036887 | ||||||
| chr1:186036900
|
G | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5750-1034G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186036900 | ||||||
| chr1:186037018
|
A | AT | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(1): Show | 4 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.5750-910dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | INFO_REALIGN_3_PRIME | chr1 | 186037018 | |||||
| chr1:186037153
|
T | A | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5750-781T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186037153 | ||||||
| chr1:186037263
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5750-671C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 36/106 | chr1 | 186037263 | ||||||
| chr1:186038085
|
A | G | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.5851+50A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 37/106 | chr1 | 186038085 | ||||||
| chr1:186038152
|
C | A | 6 | a0001c0001t0001g0083a0001c0001t0001g0087a0001c0001t0001g0091others(3): Show | 6 | HG01891.hp2 HG02109.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.5851+117C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 37/106 | chr1 | 186038152 | ||||||
| chr1:186038380
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.5851+345G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 37/106 | chr1 | 186038380 | ||||||
| chr1:186038477
|
G | T | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.5852-352G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 37/106 | chr1 | 186038477 | ||||||
| chr1:186039348
|
C | T | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(1): Show | 4 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.6028+343C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 38/106 | chr1 | 186039348 | ||||||
| chr1:186039410
|
G | GCA | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG00323.hp1 HG01243.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.6029-296_6029-295d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 38/106 | INFO_REALIGN_3_PRIME | chr1 | 186039410 | |||||
| chr1:186039717
|
G | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6029-11G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 38/106 | chr1 | 186039717 | ||||||
| chr1:186039724
|
T | C | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
splice_region_variant&intron_variant | LOW | c.6029-4T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 38/106 | chr1 | 186039724 | ||||||
| chr1:186040075
|
T | C | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6180+196T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | chr1 | 186040075 | ||||||
| chr1:186040168
|
G | A | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.6180+289G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | chr1 | 186040168 | ||||||
| chr1:186040371
|
T | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.6180+492T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | chr1 | 186040371 | ||||||
| chr1:186040557
|
T | C | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6181-456T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | chr1 | 186040557 | ||||||
| chr1:186040607
|
A | G | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.6181-406A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | chr1 | 186040607 | ||||||
| chr1:186040831
|
TC | T | 8 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0004t0002g0023others(5): Show | 8 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.6181-180delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 39/106 | INFO_REALIGN_3_PRIME | chr1 | 186040831 | |||||
| chr1:186041432
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6304+296T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186041432 | ||||||
| chr1:186041598
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6304+462G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186041598 | ||||||
| chr1:186041609
|
C | T | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.6304+473C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186041609 | ||||||
| chr1:186041660
|
C | T | 1 | a0001c0001t0002g0090 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.6304+524C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186041660 | ||||||
| chr1:186041822
|
T | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.6304+686T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186041822 | ||||||
| chr1:186042081
|
A | G | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.6304+945A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186042081 | ||||||
| chr1:186042103
|
A | C | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.6304+967A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186042103 | ||||||
| chr1:186042823
|
G | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.6304+1687G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186042823 | ||||||
| chr1:186043058
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.6304+1922G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186043058 | ||||||
| chr1:186043204
|
A | G | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.6304+2068A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186043204 | ||||||
| chr1:186043697
|
G | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.6305-1991G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186043697 | ||||||
| chr1:186043717
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6305-1971A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186043717 | ||||||
| chr1:186044173
|
T | C | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.6305-1515T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186044173 | ||||||
| chr1:186044444
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6305-1244C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186044444 | ||||||
| chr1:186044482
|
G | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.6305-1206G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186044482 | ||||||
| chr1:186044579
|
A | G | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6305-1109A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186044579 | ||||||
| chr1:186044996
|
G | T | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.6305-692G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186044996 | ||||||
| chr1:186045244
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6305-444A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186045244 | ||||||
| chr1:186045455
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.6305-233G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186045455 | ||||||
| chr1:186045642
|
T | C | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.6305-46T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 40/106 | chr1 | 186045642 | ||||||
| chr1:186046223
|
T | C | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.6480+360T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046223 | ||||||
| chr1:186046233
|
C | T | 3 | a0007c0010t0001g0005a0007c0010t0002g0003a0047c0014t0001g0055 | 3 | HG02055.hp2 HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6480+370C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046233 | ||||||
| chr1:186046244
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.6480+381G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046244 | ||||||
| chr1:186046285
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6480+422A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046285 | ||||||
| chr1:186046329
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.6480+466C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046329 | ||||||
| chr1:186046353
|
C | T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.6480+490C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046353 | ||||||
| chr1:186046473
|
CA | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.6480+621delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | INFO_REALIGN_3_PRIME | chr1 | 186046473 | |||||
| chr1:186046488
|
A | C | 1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.6480+625A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046488 | ||||||
| chr1:186046692
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6480+829C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186046692 | ||||||
| chr1:186047093
|
A | G | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6480+1230A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047093 | ||||||
| chr1:186047410
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.6481-1333G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047410 | ||||||
| chr1:186047419
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6481-1324G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047419 | ||||||
| chr1:186047669
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.6481-1074A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047669 | ||||||
| chr1:186047709
|
T | C | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.6481-1034T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047709 | ||||||
| chr1:186047753
|
T | C | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.6481-990T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047753 | ||||||
| chr1:186047939
|
T | G | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.6481-804T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047939 | ||||||
| chr1:186047973
|
T | C | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.6481-770T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186047973 | ||||||
| chr1:186048025
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6481-718G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186048025 | ||||||
| chr1:186048185
|
G | A | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6481-558G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186048185 | ||||||
| chr1:186048239
|
T | C | 4 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(1): Show | 4 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.6481-504T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186048239 | ||||||
| chr1:186048593
|
G | T | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.6481-150G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186048593 | ||||||
| chr1:186048688
|
A | T | 4 | a0008c0009t0001g0084a0008c0009t0002g0085a0013c0011t0004g0057others(1): Show | 4 | HG01069.hp1 HG02258.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.6481-55A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 41/106 | chr1 | 186048688 | ||||||
| chr1:186049072
|
A | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.6577+233A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049072 | ||||||
| chr1:186049536
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6577+697T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049536 | ||||||
| chr1:186049545
|
C | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.6577+706C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049545 | ||||||
| chr1:186049773
|
A | G | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.6577+934A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049773 | ||||||
| chr1:186049934
|
A | G | 5 | a0001c0001t0001g0052a0001c0001t0001g0078a0001c0001t0002g0004others(2): Show | 5 | HG02280.hp1 HG02615.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.6577+1095A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049934 | ||||||
| chr1:186049965
|
A | G | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.6577+1126A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186049965 | ||||||
| chr1:186050341
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6577+1502G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050341 | ||||||
| chr1:186050388
|
A | G | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.6577+1549A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050388 | ||||||
| chr1:186050405
|
C | T | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6577+1566C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050405 | ||||||
| chr1:186050451
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.6577+1612G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050451 | ||||||
| chr1:186050691
|
A | C | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6577+1852A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050691 | ||||||
| chr1:186050857
|
C | T | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.6577+2018C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186050857 | ||||||
| chr1:186051357
|
A | G | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.6578-1595A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186051357 | ||||||
| chr1:186051533
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.6578-1419G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186051533 | ||||||
| chr1:186051666
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6578-1286A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186051666 | ||||||
| chr1:186052006
|
A | T | 1 | a0012c0016t0001g0044 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.6578-946A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052006 | ||||||
| chr1:186052199
|
G | A | 1 | a0006c0006t0001g0049 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.6578-753G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052199 | ||||||
| chr1:186052245
|
G | A | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.6578-707G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052245 | ||||||
| chr1:186052298
|
G | A | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.6578-654G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052298 | ||||||
| chr1:186052371
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6578-581C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052371 | ||||||
| chr1:186052453
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6578-499T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052453 | ||||||
| chr1:186052488
|
A | G | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.6578-464A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052488 | ||||||
| chr1:186052504
|
C | T | 5 | a0001c0035t0001g0020a0006c0006t0005g0080a0033c0029t0001g0009others(2): Show | 5 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.6578-448C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052504 | ||||||
| chr1:186052696
|
G | A | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.6578-256G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052696 | ||||||
| chr1:186052900
|
T | G | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(75): Show | 78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.6578-52T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 42/106 | chr1 | 186052900 | ||||||
| chr1:186053142
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.6700+68A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 43/106 | chr1 | 186053142 | ||||||
| chr1:186053207
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.6700+133C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 43/106 | chr1 | 186053207 | ||||||
| chr1:186053363
|
A | C | 2 | a0030c0021t0001g0067a0046c0042t0001g0043 | 2 | HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.6700+289A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 43/106 | chr1 | 186053363 | ||||||
| chr1:186053716
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6701-109C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 43/106 | chr1 | 186053716 | ||||||
| chr1:186053807
|
A | G | 2 | a0007c0010t0001g0005a0007c0010t0002g0003 | 2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.6701-18A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 43/106 | chr1 | 186053807 | ||||||
| chr1:186054239
|
T | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.6862+253T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 44/106 | chr1 | 186054239 | ||||||
| chr1:186054888
|
C | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6863-505C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 44/106 | chr1 | 186054888 | ||||||
| chr1:186055059
|
A | G | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.6863-334A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 44/106 | chr1 | 186055059 | ||||||
| chr1:186055246
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6863-147A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 44/106 | chr1 | 186055246 | ||||||
| chr1:186055369
|
T | C | 1 | a0002c0007t0002g0025 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6863-24T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 44/106 | chr1 | 186055369 | ||||||
| chr1:186055744
|
A | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7144+70A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186055744 | ||||||
| chr1:186055873
|
G | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.7144+199G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186055873 | ||||||
| chr1:186055889
|
T | A | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0046c0042t0001g0043 | 3 | HG03516.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.7144+215T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186055889 | ||||||
| chr1:186056259
|
G | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7144+585G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056259 | ||||||
| chr1:186056330
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.7144+656G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056330 | ||||||
| chr1:186056339
|
T | C | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.7144+665T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056339 | ||||||
| chr1:186056498
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.7145-736G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056498 | ||||||
| chr1:186056697
|
G | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7145-537G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056697 | ||||||
| chr1:186056910
|
G | A | 8 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0004t0002g0023others(5): Show | 8 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.7145-324G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186056910 | ||||||
| chr1:186057006
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7145-228A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186057006 | ||||||
| chr1:186057031
|
T | TCACA | 4 | a0014c0013t0001g0056a0016c0047t0001g0081a0030c0021t0001g0067others(1): Show | 4 | HG01891.hp1 HG03516.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.7145-170_7145-167d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
T | TCTCA | 8 | a0008c0009t0001g0084a0008c0009t0002g0085a0010c0051t0001g0047others(5): Show | 8 | HG01069.hp1 HG02258.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.7145-202_7145-201i others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
T | TCTCACAC others(1): Show |
9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.7145-202_7145-201i others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
T | TCTCACAC others(3): Show |
1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.7145-202_7145-201i others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
TCA | T | 33 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(30): Show | 33 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.7145-168_7145-167d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
TCACA | T | 7 | a0001c0035t0001g0020a0006c0006t0005g0080a0007c0010t0001g0005others(4): Show | 7 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(4): Show |
intron_variant | MODIFIER | c.7145-170_7145-167d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057031
|
TCACACAC others(1): Show |
T | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.7145-174_7145-167d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | INFO_REALIGN_3_PRIME | chr1 | 186057031 | |||||
| chr1:186057033
|
A | T | 10 | a0001c0001t0002g0021a0002c0004t0001g0030a0002c0004t0001g0050others(7): Show | 10 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.7145-201A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186057033 | ||||||
| chr1:186057035
|
A | T | 33 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(30): Show | 33 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.7145-199A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186057035 | ||||||
| chr1:186057041
|
A | T | 2 | a0009c0050t0002g0048a0009c0052t0002g0077 | 2 | HG02622.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.7145-193A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186057041 | ||||||
| chr1:186057059
|
A | G | 8 | a0002c0004t0001g0030a0002c0004t0001g0050a0002c0004t0002g0023others(5): Show | 8 | HG02809.hp2 HG02886.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.7145-175A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 45/106 | chr1 | 186057059 | ||||||
| chr1:186057941
|
T | C | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.7312+540T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186057941 | ||||||
| chr1:186058295
|
T | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.7312+894T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186058295 | ||||||
| chr1:186058389
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.7312+988G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186058389 | ||||||
| chr1:186058938
|
C | T | 1 | a0005c0005t0003g0012 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.7312+1537C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186058938 | ||||||
| chr1:186059194
|
C | T | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.7312+1793C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186059194 | ||||||
| chr1:186059476
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.7312+2075C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186059476 | ||||||
| chr1:186059954
|
C | A | 11 | a0001c0027t0002g0088a0002c0004t0001g0030a0002c0004t0001g0050others(8): Show | 11 | HG02109.hp1 HG02615.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.7313-1897C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186059954 | ||||||
| chr1:186060014
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7313-1837C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060014 | ||||||
| chr1:186060024
|
T | C | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.7313-1827T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060024 | ||||||
| chr1:186060083
|
A | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7313-1768A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060083 | ||||||
| chr1:186060568
|
G | A | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7313-1283G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060568 | ||||||
| chr1:186060645
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7313-1206G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060645 | ||||||
| chr1:186060682
|
A | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7313-1169A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060682 | ||||||
| chr1:186060886
|
ATCTGATC others(11): Show |
A | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.7313-961_7313-944d others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | INFO_REALIGN_3_PRIME | chr1 | 186060886 | |||||
| chr1:186060891
|
A | C | 2 | a0030c0021t0001g0067a0046c0042t0001g0043 | 2 | HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.7313-960A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060891 | ||||||
| chr1:186060960
|
G | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7313-891G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186060960 | ||||||
| chr1:186061400
|
C | A | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.7313-451C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186061400 | ||||||
| chr1:186061505
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.7313-346G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186061505 | ||||||
| chr1:186061542
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.7313-309C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186061542 | ||||||
| chr1:186061770
|
G | T | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.7313-81G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 46/106 | chr1 | 186061770 | ||||||
| chr1:186062231
|
T | C | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.7426+267T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 47/106 | chr1 | 186062231 | ||||||
| chr1:186062381
|
G | A | 2 | a0002c0007t0002g0029a0002c0007t0006g0028 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.7427-133G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 47/106 | chr1 | 186062381 | ||||||
| chr1:186062645
|
G | T | 4 | a0009c0050t0002g0048a0009c0052t0002g0077a0010c0051t0001g0047others(1): Show | 4 | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.7513+45G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186062645 | ||||||
| chr1:186062868
|
T | G | 1 | a0001c0001t0001g0075 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.7513+268T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186062868 | ||||||
| chr1:186063034
|
A | ATG | 6 | a0004c0002t0001g0036a0005c0005t0003g0011a0005c0005t0003g0012others(3): Show | 6 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.7513+465_7513+466d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063034 | |||||
| chr1:186063054
|
G | GCATATAT others(3): Show |
1 | a0013c0011t0004g0058 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.7513+454_7513+455i others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063054 | ||||||
| chr1:186063056
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7513+456G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063056 | ||||||
| chr1:186063058
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7513+458G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063058 | ||||||
| chr1:186063060
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7513+460G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063060 | ||||||
| chr1:186063060
|
G | GCATATAT others(19): Show |
1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7513+460_7513+461i others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063060 | ||||||
| chr1:186063062
|
G | A | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0016c0047t0001g0081 | 3 | HG01891.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7513+462G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063062 | ||||||
| chr1:186063064
|
G | A | 3 | a0013c0011t0004g0057a0013c0011t0004g0058a0016c0047t0001g0081 | 3 | HG01891.hp1 HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7513+464G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063064 | ||||||
| chr1:186063064
|
G | GCATATAT others(3): Show |
1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7513+464_7513+465i others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063064 | ||||||
| chr1:186063064
|
G | GCATATAT others(5): Show |
2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7513+464_7513+465i others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063064 | ||||||
| chr1:186063064
|
G | GCATATAT others(9): Show |
3 | a0001c0001t0002g0004a0010c0053t0001g0079a0043c0025t0001g0007 | 3 | HG02615.hp2 HG02622.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.7513+464_7513+465i others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063064 | ||||||
| chr1:186063064
|
G | GCATATAT others(11): Show |
1 | a0009c0050t0002g0048 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.7513+464_7513+465i others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063064 | ||||||
| chr1:186063064
|
GTGCATAT others(7): Show |
G | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.7513+466_7513+479d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063064 | |||||
| chr1:186063066
|
G | A | 12 | a0001c0001t0001g0052a0001c0001t0002g0004a0008c0009t0001g0084others(9): Show | 12 | HG01069.hp1 HG01891.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.7513+466G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063066 | ||||||
| chr1:186063066
|
G | GTATATAT others(1): Show |
2 | a0002c0004t0001g0030a0037c0038t0001g0038 | 2 | HG01978.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.7513+466_7513+467i others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063066 | ||||||
| chr1:186063066
|
G | GTGCATAT others(7): Show |
1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.7513+466_7513+467i others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063066 | ||||||
| chr1:186063066
|
G | GTGTGTGT others(25): Show |
1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7513+466_7513+467i others(34): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063066 | ||||||
| chr1:186063067
|
C | CAT | 4 | a0003c0003t0001g0051a0003c0018t0002g0046a0012c0017t0001g0062others(1): Show | 4 | HG01074.hp1 HG01261.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.7513+502_7513+503d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATAT | 6 | a0001c0001t0001g0082a0007c0010t0001g0005a0023c0048t0002g0026others(3): Show | 6 | HG02109.hp1 HG02723.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.7513+498_7513+503d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(1): Show |
14 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0087others(11): Show | 14 | HG00639.hp1 HG01074.hp2 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.7513+496_7513+503d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(3): Show |
6 | a0001c0001t0002g0032a0006c0006t0005g0080a0011c0008t0001g0070others(3): Show | 6 | HG00639.hp2 HG01069.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.7513+494_7513+503d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(5): Show |
2 | a0002c0004t0001g0050a0011c0008t0001g0069 | 2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.7513+492_7513+503d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(7): Show |
1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.7513+490_7513+503d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(9): Show |
1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.7513+488_7513+503d others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(11): Show |
5 | a0001c0001t0001g0078a0001c0001t0001g0091a0002c0004t0002g0024others(2): Show | 5 | HG02280.hp1 HG03017.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.7513+486_7513+503d others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CATATATA others(19): Show |
1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.7513+478_7513+503d others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
C | CGTATATA others(7): Show |
1 | a0002c0007t0002g0029 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.7513+467_7513+468i others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063067 | ||||||
| chr1:186063067
|
C | CGTATATA others(13): Show |
1 | a0002c0007t0006g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.7513+467_7513+468i others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063067 | ||||||
| chr1:186063067
|
C | T | 17 | a0001c0001t0001g0052a0001c0001t0002g0004a0002c0004t0001g0030others(14): Show | 17 | HG01069.hp1 HG01891.hp1 HG01978.hp1 others(14): Show |
intron_variant | MODIFIER | c.7513+467C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063067 | ||||||
| chr1:186063067
|
CATATATA others(3): Show |
C | 3 | a0001c0001t0001g0075a0006c0006t0001g0049a0039c0033t0001g0076 | 3 | HG01099.hp1 HG01261.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.7513+494_7513+503d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
CATATATA others(5): Show |
C | 2 | a0003c0003t0001g0054a0027c0019t0001g0008 | 2 | HG00735.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.7513+492_7513+503d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063067
|
CATATATA others(7): Show |
C | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.7513+490_7513+503d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063067 | |||||
| chr1:186063075
|
T | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.7513+475T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063075 | ||||||
| chr1:186063079
|
T | C | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.7513+479T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063079 | ||||||
| chr1:186063088
|
A | ATATGTAT others(5): Show |
2 | a0005c0005t0003g0011a0005c0005t0003g0012 | 2 | HG01243.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.7513+491_7513+492i others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063088 | |||||
| chr1:186063088
|
A | ATGTATAT others(3): Show |
1 | a0024c0044t0003g0071 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.7513+489_7513+490i others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063088 | |||||
| chr1:186063088
|
A | G | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.7513+488A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063088 | ||||||
| chr1:186063096
|
A | ATATATAT others(29): Show |
1 | a0004c0002t0001g0016 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.7513+503_7513+504i others(38): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(25): Show |
1 | a0004c0002t0001g0015 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.7513+503_7513+504i others(34): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(19): Show |
1 | a0004c0002t0001g0036 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.7513+503_7513+504i others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(13): Show |
1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.7513+503_7513+504i others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(11): Show |
2 | a0004c0002t0001g0014a0020c0055t0001g0013 | 2 | HG02451.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.7513+503_7513+504i others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(9): Show |
3 | a0004c0002t0001g0072a0017c0054t0003g0027a0019c0056t0001g0018 | 3 | HG02572.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.7513+503_7513+504i others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(21): Show |
1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.7513+503_7513+504i others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(7): Show |
1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7513+503_7513+504i others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | ATATATAT others(15): Show |
1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.7513+503_7513+504i others(24): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063096 | |||||
| chr1:186063096
|
A | G | 16 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(13): Show | 16 | HG01069.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.7513+496A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063096 | ||||||
| chr1:186063191
|
T | C | 8 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(5): Show | 8 | HG01069.hp1 HG01192.hp2 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.7513+591T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063191 | ||||||
| chr1:186063447
|
A | G | 6 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(3): Show | 6 | HG00323.hp1 HG01069.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.7513+847A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063447 | ||||||
| chr1:186063449
|
AGAAG | A | 8 | a0001c0001t0001g0010a0003c0018t0002g0046a0003c0043t0001g0066others(5): Show | 8 | HG00639.hp1 HG01516.hp1 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.7513+911_7513+914d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(1): Show |
A | 14 | a0001c0001t0001g0035a0001c0001t0001g0083a0001c0001t0001g0091others(11): Show | 14 | HG00735.hp2 HG01069.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.7513+907_7513+914d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(5): Show |
A | 20 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(17): Show | 20 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(17): Show |
intron_variant | MODIFIER | c.7513+903_7513+914d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(9): Show |
A | 25 | a0001c0001t0001g0087a0001c0027t0002g0088a0001c0035t0001g0020others(22): Show | 25 | HG00639.hp2 HG01099.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.7513+899_7513+914d others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(13): Show |
A | 6 | a0004c0002t0001g0017a0011c0008t0001g0069a0011c0008t0001g0070others(3): Show | 6 | HG01074.hp1 HG03041.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.7513+895_7513+914d others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(17): Show |
A | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.7513+891_7513+914d others(26): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(21): Show |
A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0021c0057t0001g0019 | 3 | HG01243.hp1 HG02486.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.7513+887_7513+914d others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063449
|
AGAAGGAA others(25): Show |
A | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.7513+883_7513+914d others(34): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063449 | |||||
| chr1:186063451
|
AAG | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7513+852_7513+853d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063451 | ||||||
| chr1:186063451
|
AAGGAAG | A | 2 | a0014c0013t0001g0056a0047c0014t0001g0055 | 2 | HG02055.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.7513+852_7513+857d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063451 | ||||||
| chr1:186063451
|
AAGGAAGG others(3): Show |
A | 2 | a0017c0054t0003g0027a0046c0042t0001g0043 | 2 | HG03041.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.7513+852_7513+861d others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063451 | ||||||
| chr1:186063451
|
AAGGAAGG others(7): Show |
A | 2 | a0015c0012t0008g0001a0024c0044t0003g0071 | 2 | HG00323.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.7513+852_7513+865d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063451 | ||||||
| chr1:186063500
|
AGGAAGGA others(7): Show |
A | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.7513+902_7513+915d others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186063500 | |||||
| chr1:186063501
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.7513+901G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063501 | ||||||
| chr1:186063655
|
T | C | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7513+1055T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063655 | ||||||
| chr1:186063872
|
C | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7513+1272C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063872 | ||||||
| chr1:186063997
|
C | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7514-1241C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186063997 | ||||||
| chr1:186064158
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7514-1080A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186064158 | ||||||
| chr1:186064435
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.7514-803C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186064435 | ||||||
| chr1:186064514
|
A | C | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.7514-724A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186064514 | ||||||
| chr1:186064548
|
G | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.7514-690G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186064548 | ||||||
| chr1:186064589
|
C | A | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.7514-649C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186064589 | ||||||
| chr1:186064809
|
C | CA | 67 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(64): Show | 67 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.7514-410dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186064809 | |||||
| chr1:186064809
|
C | CAA | 5 | a0001c0001t0002g0021a0009c0050t0002g0048a0009c0052t0002g0077others(2): Show | 5 | HG01891.hp1 HG02622.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.7514-411_7514-410d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | INFO_REALIGN_3_PRIME | chr1 | 186064809 | |||||
| chr1:186065025
|
A | G | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.7514-213A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186065025 | ||||||
| chr1:186065124
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7514-114G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 48/106 | chr1 | 186065124 | ||||||
| chr1:186065519
|
G | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.7705+90G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186065519 | ||||||
| chr1:186065791
|
T | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7705+362T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186065791 | ||||||
| chr1:186065832
|
C | A | 75 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(72): Show | 75 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.7705+403C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186065832 | ||||||
| chr1:186066070
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7705+641T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186066070 | ||||||
| chr1:186066234
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7705+805G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186066234 | ||||||
| chr1:186066267
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.7705+838T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186066267 | ||||||
| chr1:186066279
|
G | GTTCA | 4 | a0010c0051t0001g0047a0010c0053t0001g0079a0013c0011t0004g0057others(1): Show | 4 | HG02258.hp1 HG02622.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.7705+881_7705+884d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | INFO_REALIGN_3_PRIME | chr1 | 186066279 | |||||
| chr1:186066498
|
G | T | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.7705+1069G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186066498 | ||||||
| chr1:186067258
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7706-576T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186067258 | ||||||
| chr1:186067266
|
T | C | 48 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(45): Show | 48 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.7706-568T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186067266 | ||||||
| chr1:186067330
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7706-504C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186067330 | ||||||
| chr1:186067395
|
G | A | 6 | a0001c0035t0001g0020a0002c0004t0001g0050a0002c0004t0002g0023others(3): Show | 6 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.7706-439G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186067395 | ||||||
| chr1:186067798
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7706-36A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 49/106 | chr1 | 186067798 | ||||||
| chr1:186068218
|
A | T | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7879+211A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068218 | ||||||
| chr1:186068317
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7879+310G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068317 | ||||||
| chr1:186068408
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.7879+401T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068408 | ||||||
| chr1:186068559
|
A | T | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.7879+552A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068559 | ||||||
| chr1:186068622
|
C | A | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7879+615C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068622 | ||||||
| chr1:186068637
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.7879+630G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068637 | ||||||
| chr1:186068761
|
C | T | 1 | a0001c0001t0001g0078 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.7879+754C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068761 | ||||||
| chr1:186068817
|
C | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.7879+810C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186068817 | ||||||
| chr1:186068868
|
CA | C | 68 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(65): Show | 68 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.7880-772delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | INFO_REALIGN_3_PRIME | chr1 | 186068868 | |||||
| chr1:186069181
|
G | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7880-482G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186069181 | ||||||
| chr1:186069335
|
C | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.7880-328C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186069335 | ||||||
| chr1:186069545
|
A | G | 1 | a0006c0006t0005g0080 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.7880-118A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 50/106 | chr1 | 186069545 | ||||||
| chr1:186069874
|
C | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.7993+98C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186069874 | ||||||
| chr1:186070044
|
C | T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.7993+268C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070044 | ||||||
| chr1:186070123
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.7993+347C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070123 | ||||||
| chr1:186070193
|
C | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7993+417C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070193 | ||||||
| chr1:186070208
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.7994-404G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070208 | ||||||
| chr1:186070296
|
G | A | 48 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(45): Show | 48 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.7994-316G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070296 | ||||||
| chr1:186070366
|
G | A | 1 | a0018c0046t0001g0059 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.7994-246G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070366 | ||||||
| chr1:186070468
|
A | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.7994-144A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 51/106 | chr1 | 186070468 | ||||||
| chr1:186070930
|
G | C | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8139+173G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186070930 | ||||||
| chr1:186071184
|
G | T | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.8139+427G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186071184 | ||||||
| chr1:186071194
|
A | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8139+437A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186071194 | ||||||
| chr1:186071512
|
G | A | 9 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(6): Show | 9 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.8139+755G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186071512 | ||||||
| chr1:186071763
|
C | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.8139+1006C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186071763 | ||||||
| chr1:186072499
|
T | A | 3 | a0001c0001t0001g0052a0001c0001t0002g0021a0043c0025t0001g0007 | 3 | HG03017.hp1 NA18960.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.8139+1742T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186072499 | ||||||
| chr1:186072636
|
T | A | 1 | a0004c0002t0001g0036 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.8139+1879T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186072636 | ||||||
| chr1:186072863
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.8140-1878G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186072863 | ||||||
| chr1:186073055
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8140-1686G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186073055 | ||||||
| chr1:186073171
|
G | A | 18 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0002g0042others(15): Show | 18 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(15): Show |
intron_variant | MODIFIER | c.8140-1570G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186073171 | ||||||
| chr1:186073467
|
G | GGTTTTT | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8140-1261_8140-125 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | INFO_REALIGN_3_PRIME | chr1 | 186073467 | |||||
| chr1:186073491
|
C | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8140-1250C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186073491 | ||||||
| chr1:186073874
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8140-867A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186073874 | ||||||
| chr1:186074100
|
G | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8140-641G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186074100 | ||||||
| chr1:186074234
|
A | ACAT | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8140-506_8140-504d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | INFO_REALIGN_3_PRIME | chr1 | 186074234 | |||||
| chr1:186074386
|
C | CA | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.8140-355_8140-354i others(3): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186074386 | ||||||
| chr1:186074527
|
ACAG | A | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8140-208_8140-206d others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | INFO_REALIGN_3_PRIME | chr1 | 186074527 | |||||
| chr1:186074587
|
T | G | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.8140-154T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 52/106 | chr1 | 186074587 | ||||||
| chr1:186074973
|
C | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8290+82C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186074973 | ||||||
| chr1:186075105
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8290+214G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075105 | ||||||
| chr1:186075193
|
A | G | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.8290+302A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075193 | ||||||
| chr1:186075530
|
T | G | 2 | a0030c0021t0001g0067a0046c0042t0001g0043 | 2 | HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.8290+639T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075530 | ||||||
| chr1:186075681
|
G | A | 6 | a0001c0035t0001g0020a0002c0004t0001g0050a0002c0004t0002g0023others(3): Show | 6 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.8291-747G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075681 | ||||||
| chr1:186075710
|
T | A | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.8291-718T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075710 | ||||||
| chr1:186075715
|
T | C | 48 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(45): Show | 48 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.8291-713T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075715 | ||||||
| chr1:186075905
|
T | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8291-523T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186075905 | ||||||
| chr1:186076148
|
C | G | 66 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(63): Show | 66 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(63): Show |
intron_variant | MODIFIER | c.8291-280C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186076148 | ||||||
| chr1:186076189
|
C | T | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.8291-239C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186076189 | ||||||
| chr1:186076294
|
G | T | 1 | a0002c0004t0001g0050 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8291-134G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186076294 | ||||||
| chr1:186076298
|
GC | G | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.8291-129delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 53/106 | chr1 | 186076298 | ||||||
| chr1:186076785
|
T | G | 1 | a0013c0011t0004g0058 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.8485+163T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186076785 | ||||||
| chr1:186076890
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8485+268A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186076890 | ||||||
| chr1:186077319
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8485+697A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186077319 | ||||||
| chr1:186077616
|
G | A | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.8486-491G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186077616 | ||||||
| chr1:186077698
|
G | C | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.8486-409G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186077698 | ||||||
| chr1:186077772
|
A | G | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0016c0047t0001g0081 | 3 | HG01891.hp1 HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.8486-335A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186077772 | ||||||
| chr1:186077906
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8486-201C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186077906 | ||||||
| chr1:186078018
|
C | T | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.8486-89C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 54/106 | chr1 | 186078018 | ||||||
| chr1:186078305
|
G | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.8599+85G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186078305 | ||||||
| chr1:186078709
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8599+489G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186078709 | ||||||
| chr1:186078806
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8599+586G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186078806 | ||||||
| chr1:186079046
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.8599+826G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079046 | ||||||
| chr1:186079076
|
T | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.8599+856T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079076 | ||||||
| chr1:186079096
|
TAGCAGCT others(8): Show |
T | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.8599+920_8599+934d others(17): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | INFO_REALIGN_3_PRIME | chr1 | 186079096 | |||||
| chr1:186079146
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.8599+926G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079146 | ||||||
| chr1:186079158
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8599+938T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079158 | ||||||
| chr1:186079448
|
G | A | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.8599+1228G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079448 | ||||||
| chr1:186079542
|
C | T | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.8599+1322C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079542 | ||||||
| chr1:186079709
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.8599+1489A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079709 | ||||||
| chr1:186079811
|
G | A | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.8600-1396G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079811 | ||||||
| chr1:186079867
|
A | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8600-1340A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079867 | ||||||
| chr1:186079922
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8600-1285G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186079922 | ||||||
| chr1:186080237
|
T | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8600-970T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186080237 | ||||||
| chr1:186080242
|
A | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8600-965A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186080242 | ||||||
| chr1:186080259
|
G | A | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.8600-948G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186080259 | ||||||
| chr1:186080324
|
A | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8600-883A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186080324 | ||||||
| chr1:186080704
|
A | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.8600-503A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | chr1 | 186080704 | ||||||
| chr1:186081079
|
CAT | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8600-124_8600-123d others(4): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 55/106 | INFO_REALIGN_3_PRIME | chr1 | 186081079 | |||||
| chr1:186081627
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.8787+233C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186081627 | ||||||
| chr1:186082036
|
A | T | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.8787+642A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186082036 | ||||||
| chr1:186082079
|
T | C | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.8787+685T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186082079 | ||||||
| chr1:186082102
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8787+708A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186082102 | ||||||
| chr1:186082464
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8788-401C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186082464 | ||||||
| chr1:186082668
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8788-197C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 56/106 | chr1 | 186082668 | ||||||
| chr1:186083113
|
G | A | 1 | a0017c0054t0003g0027 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.8884+152G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083113 | ||||||
| chr1:186083165
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8884+204A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083165 | ||||||
| chr1:186083500
|
T | TAAAA | 10 | a0001c0001t0001g0075a0004c0002t0001g0014a0004c0002t0001g0015others(7): Show | 10 | HG00323.hp1 HG01099.hp1 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.8884+554_8884+557d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | INFO_REALIGN_3_PRIME | chr1 | 186083500 | |||||
| chr1:186083500
|
T | TAAAAA | 40 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(37): Show | 40 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(37): Show |
intron_variant | MODIFIER | c.8884+553_8884+557d others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | INFO_REALIGN_3_PRIME | chr1 | 186083500 | |||||
| chr1:186083500
|
T | TAAAAAA | 17 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0015t0001g0045others(14): Show | 17 | HG01192.hp1 HG01243.hp1 HG01978.hp1 others(14): Show |
intron_variant | MODIFIER | c.8884+552_8884+557d others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | INFO_REALIGN_3_PRIME | chr1 | 186083500 | |||||
| chr1:186083609
|
A | G | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.8884+648A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083609 | ||||||
| chr1:186083625
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.8884+664A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083625 | ||||||
| chr1:186083830
|
C | G | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.8884+869C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083830 | ||||||
| chr1:186083845
|
G | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8884+884G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186083845 | ||||||
| chr1:186084039
|
C | T | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.8884+1078C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084039 | ||||||
| chr1:186084103
|
C | T | 13 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0001t0001g0078others(10): Show | 13 | HG00323.hp2 HG01074.hp2 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.8884+1142C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084103 | ||||||
| chr1:186084308
|
A | G | 73 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(70): Show | 73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.8884+1347A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084308 | ||||||
| chr1:186084388
|
A | G | 1 | a0002c0007t0006g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.8884+1427A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084388 | ||||||
| chr1:186084437
|
G | A | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.8884+1476G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084437 | ||||||
| chr1:186084554
|
C | G | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.8884+1593C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084554 | ||||||
| chr1:186084559
|
C | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8884+1598C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084559 | ||||||
| chr1:186084923
|
A | G | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.8885-1323A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186084923 | ||||||
| chr1:186085030
|
C | T | 2 | a0009c0050t0002g0048a0009c0052t0002g0077 | 2 | HG02622.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.8885-1216C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085030 | ||||||
| chr1:186085046
|
G | T | 2 | a0002c0007t0002g0025a0023c0048t0002g0026 | 2 | HG03195.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.8885-1200G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085046 | ||||||
| chr1:186085278
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8885-968G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085278 | ||||||
| chr1:186085316
|
C | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.8885-930C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085316 | ||||||
| chr1:186085439
|
G | A | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.8885-807G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085439 | ||||||
| chr1:186085568
|
G | A | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.8885-678G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085568 | ||||||
| chr1:186085664
|
A | G | 68 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(65): Show | 68 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(65): Show |
intron_variant | MODIFIER | c.8885-582A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085664 | ||||||
| chr1:186085724
|
TC | T | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.8885-520delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | INFO_REALIGN_3_PRIME | chr1 | 186085724 | |||||
| chr1:186085978
|
C | A | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.8885-268C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085978 | ||||||
| chr1:186085978
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.8885-268C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085978 | ||||||
| chr1:186085979
|
G | A | 1 | a0001c0001t0002g0090 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.8885-267G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186085979 | ||||||
| chr1:186086045
|
A | G | 73 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(70): Show | 73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.8885-201A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186086045 | ||||||
| chr1:186086239
|
A | G | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
splice_region_variant&intron_variant | LOW | c.8885-7A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 57/106 | chr1 | 186086239 | ||||||
| chr1:186086438
|
A | G | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.9046+31A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086438 | ||||||
| chr1:186086611
|
G | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9046+204G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086611 | ||||||
| chr1:186086774
|
GTAGATAG others(16): Show |
G | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.9046+385_9047-403d others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086774 | |||||
| chr1:186086791
|
TAGATGAT others(20): Show |
T | 14 | a0001c0001t0001g0010a0001c0001t0002g0089a0004c0002t0001g0015others(11): Show | 14 | HG00639.hp1 HG01243.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.9046+385_9047-399d others(29): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086791
|
TAGATGAT others(24): Show |
T | 28 | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0001g0087others(25): Show | 28 | HG01069.hp2 HG01099.hp2 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.9046+385_9047-395d others(33): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086791
|
TAGATGAT others(28): Show |
T | 4 | a0018c0046t0001g0059a0023c0048t0002g0026a0026c0040t0003g0086others(1): Show | 4 | HG02451.hp1 HG03139.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.9046+385_9047-391d others(37): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086791
|
TAGATGAT others(32): Show |
T | 8 | a0001c0001t0001g0075a0001c0001t0001g0091a0001c0001t0002g0042others(5): Show | 8 | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.9046+385_9047-387d others(41): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086791
|
TAGATGAT others(36): Show |
T | 14 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0083others(11): Show | 14 | HG00323.hp1 HG01261.hp2 HG01978.hp2 others(11): Show |
intron_variant | MODIFIER | c.9046+385_9047-383d others(45): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086791
|
TAGATGAT others(40): Show |
T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.9046+385_9047-379d others(49): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086791 | ||||||
| chr1:186086795
|
TGATAGAT others(16): Show |
T | 2 | a0008c0009t0001g0084a0047c0014t0001g0055 | 2 | HG01069.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.9047-402_9047-380d others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086795 | |||||
| chr1:186086795
|
TGATAGAT others(24): Show |
T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.9047-402_9047-372d others(33): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086795 | |||||
| chr1:186086814
|
TGATA | T | 5 | a0003c0003t0001g0039a0003c0003t0001g0051a0003c0003t0001g0054others(2): Show | 5 | HG00735.hp2 HG01261.hp1 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.9047-351_9047-348d others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086814 | |||||
| chr1:186086814
|
TGATAGAT others(1): Show |
T | 4 | a0003c0018t0002g0046a0012c0016t0001g0044a0014c0013t0001g0056others(1): Show | 4 | HG02698.hp1 HG02723.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.9047-355_9047-348d others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086814 | |||||
| chr1:186086814
|
TGATAGAT others(5): Show |
T | 2 | a0003c0043t0001g0066a0046c0042t0001g0043 | 2 | HG02040.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.9047-359_9047-348d others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | 186086814 | |||||
| chr1:186086867
|
G | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.9047-350G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186086867 | ||||||
| chr1:186087124
|
G | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9047-93G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | 186087124 | ||||||
| chr1:186087358
|
C | A | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.9160+28C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 59/106 | chr1 | 186087358 | ||||||
| chr1:186088049
|
T | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.9445+36T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 61/106 | chr1 | 186088049 | ||||||
| chr1:186088535
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.9578-71A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 62/106 | chr1 | 186088535 | ||||||
| chr1:186088542
|
A | C | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.9578-64A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 62/106 | chr1 | 186088542 | ||||||
| chr1:186088574
|
T | A | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.9578-32T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 62/106 | chr1 | 186088574 | ||||||
| chr1:186089084
|
T | C | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.9727+329T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186089084 | ||||||
| chr1:186089137
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9727+382A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186089137 | ||||||
| chr1:186089796
|
A | AT | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.9728-960dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | INFO_REALIGN_3_PRIME | chr1 | 186089796 | |||||
| chr1:186089996
|
A | G | 1 | a0001c0001t0001g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.9728-762A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186089996 | ||||||
| chr1:186090032
|
A | G | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.9728-726A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090032 | ||||||
| chr1:186090068
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.9728-690G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090068 | ||||||
| chr1:186090184
|
C | CA | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.9728-573dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | INFO_REALIGN_3_PRIME | chr1 | 186090184 | |||||
| chr1:186090252
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9728-506T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090252 | ||||||
| chr1:186090293
|
A | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9728-465A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090293 | ||||||
| chr1:186090419
|
A | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.9728-339A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090419 | ||||||
| chr1:186090435
|
G | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.9728-323G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090435 | ||||||
| chr1:186090635
|
T | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9728-123T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090635 | ||||||
| chr1:186090678
|
T | A | 1 | a0024c0044t0003g0071 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.9728-80T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | chr1 | 186090678 | ||||||
| chr1:186090724
|
CTTG | C | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.9728-31_9728-29del others(3): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 63/106 | INFO_REALIGN_3_PRIME | chr1 | 186090724 | |||||
| chr1:186091364
|
A | ATAC | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9887+449_9887+450i others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | INFO_REALIGN_3_PRIME | chr1 | 186091364 | |||||
| chr1:186091420
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.9887+503G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186091420 | ||||||
| chr1:186091636
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.9887+719T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186091636 | ||||||
| chr1:186091715
|
A | T | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9887+798A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186091715 | ||||||
| chr1:186091967
|
G | A | 73 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(70): Show | 73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.9887+1050G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186091967 | ||||||
| chr1:186092547
|
C | G | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9888-587C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186092547 | ||||||
| chr1:186092662
|
A | AT | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.9888-472_9888-471i others(3): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186092662 | ||||||
| chr1:186092818
|
G | A | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.9888-316G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186092818 | ||||||
| chr1:186093074
|
T | C | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0046c0042t0001g0043 | 3 | HG03516.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.9888-60T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 64/106 | chr1 | 186093074 | ||||||
| chr1:186093277
|
C | T | 4 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(1): Show | 4 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.10012+19C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 65/106 | chr1 | 186093277 | ||||||
| chr1:186093374
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.10013-112A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 65/106 | chr1 | 186093374 | ||||||
| chr1:186093725
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.10196+56C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 66/106 | chr1 | 186093725 | ||||||
| chr1:186093736
|
T | C | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.10196+67T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 66/106 | chr1 | 186093736 | ||||||
| chr1:186093792
|
A | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10196+123A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 66/106 | chr1 | 186093792 | ||||||
| chr1:186093983
|
A | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10197-293A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 66/106 | chr1 | 186093983 | ||||||
| chr1:186094011
|
A | T | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.10197-265A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 66/106 | chr1 | 186094011 | ||||||
| chr1:186094473
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.10294+100C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186094473 | ||||||
| chr1:186094510
|
A | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10294+137A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186094510 | ||||||
| chr1:186094642
|
A | G | 1 | a0036c0032t0001g0064 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.10294+269A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186094642 | ||||||
| chr1:186094731
|
T | C | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.10294+358T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186094731 | ||||||
| chr1:186095147
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.10295-96C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186095147 | ||||||
| chr1:186095170
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10295-73C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 67/106 | chr1 | 186095170 | ||||||
| chr1:186095627
|
T | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10573+106T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095627 | ||||||
| chr1:186095628
|
A | T | 71 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(68): Show | 71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.10573+107A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095628 | ||||||
| chr1:186095649
|
A | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.10573+128A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095649 | ||||||
| chr1:186095650
|
A | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10573+129A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095650 | ||||||
| chr1:186095726
|
A | C | 13 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0002g0004others(10): Show | 13 | HG00639.hp1 HG01069.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.10573+205A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095726 | ||||||
| chr1:186095736
|
A | G | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.10573+215A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095736 | ||||||
| chr1:186095792
|
G | A | 2 | a0002c0007t0002g0029a0002c0007t0006g0028 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.10573+271G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095792 | ||||||
| chr1:186095960
|
G | T | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.10573+439G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186095960 | ||||||
| chr1:186096037
|
T | G | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10573+516T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096037 | ||||||
| chr1:186096084
|
C | T | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.10573+563C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096084 | ||||||
| chr1:186096125
|
T | G | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.10573+604T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096125 | ||||||
| chr1:186096250
|
C | T | 65 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(62): Show | 65 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.10573+729C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096250 | ||||||
| chr1:186096265
|
T | G | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.10573+744T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096265 | ||||||
| chr1:186096407
|
T | G | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.10573+886T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096407 | ||||||
| chr1:186096521
|
T | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.10573+1000T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096521 | ||||||
| chr1:186096557
|
C | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10573+1036C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096557 | ||||||
| chr1:186096561
|
A | G | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0046c0042t0001g0043 | 3 | HG03516.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.10573+1040A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186096561 | ||||||
| chr1:186097125
|
T | C | 3 | a0007c0010t0002g0003a0009c0050t0002g0048a0009c0052t0002g0077 | 3 | HG02615.hp1 HG02622.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.10573+1604T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186097125 | ||||||
| chr1:186097389
|
G | C | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.10573+1868G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186097389 | ||||||
| chr1:186097501
|
CA | C | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.10573+1992delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | INFO_REALIGN_3_PRIME | chr1 | 186097501 | |||||
| chr1:186097813
|
G | T | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.10573+2292G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186097813 | ||||||
| chr1:186098164
|
A | C | 73 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(70): Show | 73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.10573+2643A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186098164 | ||||||
| chr1:186098292
|
A | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.10573+2771A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186098292 | ||||||
| chr1:186098393
|
T | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10573+2872T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186098393 | ||||||
| chr1:186098763
|
A | G | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.10573+3242A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186098763 | ||||||
| chr1:186098808
|
T | G | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.10573+3287T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186098808 | ||||||
| chr1:186099116
|
A | G | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.10573+3595A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186099116 | ||||||
| chr1:186099443
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.10573+3922T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186099443 | ||||||
| chr1:186099459
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10573+3938C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186099459 | ||||||
| chr1:186099465
|
A | G | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.10573+3944A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186099465 | ||||||
| chr1:186099953
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.10574-3519C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186099953 | ||||||
| chr1:186100008
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.10574-3464C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100008 | ||||||
| chr1:186100047
|
C | G | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.10574-3425C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100047 | ||||||
| chr1:186100113
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10574-3359G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100113 | ||||||
| chr1:186100506
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.10574-2966G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100506 | ||||||
| chr1:186100608
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.10574-2864A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100608 | ||||||
| chr1:186100668
|
A | G | 8 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(5): Show | 8 | HG01069.hp1 HG01192.hp2 HG01243.hp1 others(5): Show |
intron_variant | MODIFIER | c.10574-2804A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186100668 | ||||||
| chr1:186101035
|
A | G | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10574-2437A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186101035 | ||||||
| chr1:186101646
|
A | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(71): Show |
intron_variant | MODIFIER | c.10574-1826A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186101646 | ||||||
| chr1:186101770
|
A | G | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.10574-1702A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186101770 | ||||||
| chr1:186101921
|
T | G | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.10574-1551T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186101921 | ||||||
| chr1:186102078
|
T | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.10574-1394T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186102078 | ||||||
| chr1:186102099
|
A | G | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.10574-1373A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186102099 | ||||||
| chr1:186102599
|
T | C | 1 | a0003c0003t0001g0054 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.10574-873T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186102599 | ||||||
| chr1:186102734
|
A | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.10574-738A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186102734 | ||||||
| chr1:186102831
|
G | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.10574-641G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186102831 | ||||||
| chr1:186103106
|
C | G | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.10574-366C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103106 | ||||||
| chr1:186103159
|
C | A | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.10574-313C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103159 | ||||||
| chr1:186103160
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10574-312G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103160 | ||||||
| chr1:186103175
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10574-297T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103175 | ||||||
| chr1:186103419
|
C | G | 1 | a0009c0052t0002g0077 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.10574-53C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103419 | ||||||
| chr1:186103454
|
T | C | 1 | a0002c0004t0002g0023 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.10574-18T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 68/106 | chr1 | 186103454 | ||||||
| chr1:186103883
|
C | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10770+215C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186103883 | ||||||
| chr1:186104025
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.10770+357T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104025 | ||||||
| chr1:186104049
|
C | A | 69 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(66): Show | 69 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.10770+381C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104049 | ||||||
| chr1:186104155
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.10770+487T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104155 | ||||||
| chr1:186104362
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.10770+694C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104362 | ||||||
| chr1:186104399
|
T | C | 1 | a0003c0003t0001g0063 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.10770+731T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104399 | ||||||
| chr1:186104419
|
A | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10770+751A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104419 | ||||||
| chr1:186104545
|
T | C | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.10770+877T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104545 | ||||||
| chr1:186104560
|
A | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.10770+892A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104560 | ||||||
| chr1:186104683
|
G | A | 1 | a0045c0026t0001g0022 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.10770+1015G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104683 | ||||||
| chr1:186104791
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10770+1123C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104791 | ||||||
| chr1:186104893
|
A | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10770+1225A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186104893 | ||||||
| chr1:186105292
|
C | CTGAT | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10771-1590_10771-1 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | INFO_REALIGN_3_PRIME | chr1 | 186105292 | |||||
| chr1:186105307
|
C | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10771-1577C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186105307 | ||||||
| chr1:186105786
|
A | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.10771-1098A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186105786 | ||||||
| chr1:186106251
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.10771-633C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186106251 | ||||||
| chr1:186106388
|
C | T | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.10771-496C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186106388 | ||||||
| chr1:186106561
|
G | T | 1 | a0001c0001t0001g0083 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.10771-323G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186106561 | ||||||
| chr1:186106590
|
C | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10771-294C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 69/106 | chr1 | 186106590 | ||||||
| chr1:186107090
|
A | T | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10852+125A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107090 | ||||||
| chr1:186107151
|
T | G | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10852+186T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107151 | ||||||
| chr1:186107159
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.10852+194C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107159 | ||||||
| chr1:186107221
|
G | A | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10852+256G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107221 | ||||||
| chr1:186107243
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.10852+278G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107243 | ||||||
| chr1:186107313
|
C | T | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10852+348C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107313 | ||||||
| chr1:186107560
|
T | C | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10852+595T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107560 | ||||||
| chr1:186107676
|
A | ACAGC | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.10852+713_10852+71 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | INFO_REALIGN_3_PRIME | chr1 | 186107676 | |||||
| chr1:186107721
|
C | T | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.10853-740C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107721 | ||||||
| chr1:186107729
|
T | C | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10853-732T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107729 | ||||||
| chr1:186107989
|
G | A | 3 | a0002c0004t0001g0050a0002c0004t0002g0023a0002c0004t0002g0024 | 3 | HG03540.hp2 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.10853-472G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186107989 | ||||||
| chr1:186108035
|
T | TA | 4 | a0004c0002t0001g0017a0028c0020t0002g0068a0029c0022t0001g0092others(1): Show | 4 | HG02055.hp2 HG02723.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.10853-402dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | INFO_REALIGN_3_PRIME | chr1 | 186108035 | |||||
| chr1:186108035
|
TA | T | 9 | a0003c0003t0001g0051a0008c0009t0001g0084a0013c0011t0004g0057others(6): Show | 9 | HG01069.hp1 HG01261.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.10853-402delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | INFO_REALIGN_3_PRIME | chr1 | 186108035 | |||||
| chr1:186108035
|
TAA | T | 48 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(45): Show | 48 | HG00639.hp1 HG00639.hp2 HG01069.hp2 others(45): Show |
intron_variant | MODIFIER | c.10853-403_10853-40 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | INFO_REALIGN_3_PRIME | chr1 | 186108035 | |||||
| chr1:186108077
|
G | T | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.10853-384G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108077 | ||||||
| chr1:186108168
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10853-293G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108168 | ||||||
| chr1:186108170
|
C | A | 75 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(72): Show | 75 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.10853-291C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108170 | ||||||
| chr1:186108294
|
A | G | 3 | a0003c0003t0001g0039a0012c0016t0001g0044a0012c0017t0001g0062 | 3 | HG01074.hp1 HG03017.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.10853-167A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108294 | ||||||
| chr1:186108331
|
A | G | 68 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(65): Show | 68 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(65): Show |
intron_variant | MODIFIER | c.10853-130A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108331 | ||||||
| chr1:186108364
|
A | G | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10853-97A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 70/106 | chr1 | 186108364 | ||||||
| chr1:186108951
|
C | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.10989+354C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186108951 | ||||||
| chr1:186109327
|
C | T | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10989+730C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186109327 | ||||||
| chr1:186109546
|
G | A | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10989+949G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186109546 | ||||||
| chr1:186109878
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0002g0089a0001c0001t0002g0090 | 3 | HG01891.hp2 HG02976.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.10989+1281C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186109878 | ||||||
| chr1:186110112
|
G | T | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.10989+1515G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110112 | ||||||
| chr1:186110182
|
T | G | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.10989+1585T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110182 | ||||||
| chr1:186110243
|
T | C | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.10989+1646T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110243 | ||||||
| chr1:186110278
|
A | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.10989+1681A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110278 | ||||||
| chr1:186110723
|
A | G | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10990-2089A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110723 | ||||||
| chr1:186110810
|
C | T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.10990-2002C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186110810 | ||||||
| chr1:186110977
|
C | CT | 5 | a0003c0018t0002g0046a0018c0046t0001g0059a0034c0031t0001g0006others(2): Show | 5 | HG02258.hp2 HG02698.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.10990-1814dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(4): Show |
2 | a0014c0013t0001g0056a0021c0057t0001g0019 | 2 | HG03516.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.10990-1824_10990-1 others(17): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(5): Show |
7 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(4): Show | 7 | HG01099.hp2 HG02055.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.10990-1825_10990-1 others(18): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(6): Show |
5 | a0004c0002t0001g0017a0005c0005t0003g0011a0005c0005t0003g0012others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.10990-1826_10990-1 others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(8): Show |
2 | a0004c0002t0001g0072a0041c0028t0006g0002 | 2 | HG02886.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.10990-1828_10990-1 others(21): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(9): Show |
1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.10990-1829_10990-1 others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(10): Show |
1 | a0001c0001t0002g0032 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.10990-1830_10990-1 others(23): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(11): Show |
2 | a0001c0001t0001g0083a0026c0040t0003g0086 | 2 | HG02109.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.10990-1831_10990-1 others(24): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(12): Show |
15 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0087others(12): Show | 15 | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.10990-1832_10990-1 others(25): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(13): Show |
8 | a0001c0001t0002g0090a0001c0035t0001g0020a0002c0004t0001g0050others(5): Show | 8 | HG01243.hp2 HG01261.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.10990-1833_10990-1 others(26): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(14): Show |
10 | a0001c0001t0001g0035a0001c0001t0001g0078a0002c0004t0001g0030others(7): Show | 10 | HG00323.hp2 HG01978.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.10990-1834_10990-1 others(27): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(15): Show |
2 | a0001c0001t0001g0082a0001c0001t0001g0091 | 2 | HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.10990-1814_10990-1 others(28): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(17): Show |
1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10990-1814_10990-1 others(30): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186110977
|
C | CTTTTTTT others(19): Show |
3 | a0001c0001t0001g0075a0001c0027t0002g0088a0039c0033t0001g0076 | 3 | HG01099.hp1 HG02572.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.10990-1814_10990-1 others(32): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | INFO_REALIGN_3_PRIME | chr1 | 186110977 | |||||
| chr1:186111137
|
G | C | 75 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(72): Show | 75 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(72): Show |
intron_variant | MODIFIER | c.10990-1675G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111137 | ||||||
| chr1:186111138
|
G | A | 11 | a0001c0027t0002g0088a0002c0007t0002g0025a0002c0007t0002g0029others(8): Show | 11 | HG02615.hp1 HG02622.hp1 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.10990-1674G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111138 | ||||||
| chr1:186111286
|
C | T | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.10990-1526C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111286 | ||||||
| chr1:186111443
|
G | T | 1 | a0001c0001t0001g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.10990-1369G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111443 | ||||||
| chr1:186111475
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10990-1337C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111475 | ||||||
| chr1:186111607
|
C | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.10990-1205C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111607 | ||||||
| chr1:186111614
|
G | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10990-1198G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111614 | ||||||
| chr1:186111800
|
A | G | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0046c0042t0001g0043 | 3 | HG03516.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.10990-1012A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186111800 | ||||||
| chr1:186112088
|
T | C | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.10990-724T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186112088 | ||||||
| chr1:186112189
|
A | T | 3 | a0002c0004t0001g0050a0002c0004t0002g0023a0002c0004t0002g0024 | 3 | HG03540.hp2 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.10990-623A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186112189 | ||||||
| chr1:186112661
|
T | C | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.10990-151T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186112661 | ||||||
| chr1:186112784
|
G | A | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.10990-28G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186112784 | ||||||
| chr1:186112786
|
C | T | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.10990-26C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 71/106 | chr1 | 186112786 | ||||||
| chr1:186113173
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.11131+220G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113173 | ||||||
| chr1:186113184
|
C | G | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11131+231C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113184 | ||||||
| chr1:186113295
|
G | A | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.11131+342G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113295 | ||||||
| chr1:186113377
|
C | T | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11131+424C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113377 | ||||||
| chr1:186113500
|
G | A | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.11132-479G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113500 | ||||||
| chr1:186113632
|
G | A | 2 | a0014c0013t0001g0056a0046c0042t0001g0043 | 2 | HG03516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.11132-347G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113632 | ||||||
| chr1:186113937
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.11132-42A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 72/106 | chr1 | 186113937 | ||||||
| chr1:186114290
|
TC | T | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.11276+168delC | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114290 | ||||||
| chr1:186114357
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.11276+234A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114357 | ||||||
| chr1:186114401
|
A | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG01069.hp1 HG03225.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.11276+278A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114401 | ||||||
| chr1:186114402
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.11276+279C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114402 | ||||||
| chr1:186114404
|
C | A | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.11276+281C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114404 | ||||||
| chr1:186114478
|
C | T | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.11277-341C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114478 | ||||||
| chr1:186114597
|
T | G | 4 | a0001c0001t0001g0052a0001c0001t0002g0004a0001c0001t0002g0021others(1): Show | 4 | HG02615.hp2 HG03017.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.11277-222T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 73/106 | chr1 | 186114597 | ||||||
| chr1:186115502
|
A | G | 5 | a0008c0009t0001g0084a0008c0009t0002g0085a0014c0013t0001g0056others(2): Show | 5 | HG00323.hp1 HG01069.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.11561+88A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186115502 | ||||||
| chr1:186115616
|
C | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.11561+202C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186115616 | ||||||
| chr1:186115653
|
G | T | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.11561+239G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186115653 | ||||||
| chr1:186115855
|
A | AT | 66 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(63): Show | 66 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(63): Show |
intron_variant | MODIFIER | c.11561+453dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | INFO_REALIGN_3_PRIME | chr1 | 186115855 | |||||
| chr1:186115855
|
A | ATT | 4 | a0002c0004t0001g0050a0007c0010t0002g0003a0009c0050t0002g0048others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.11561+452_11561+45 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | INFO_REALIGN_3_PRIME | chr1 | 186115855 | |||||
| chr1:186115975
|
T | G | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.11561+561T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186115975 | ||||||
| chr1:186116078
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.11561+664C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116078 | ||||||
| chr1:186116421
|
A | AATAT | 34 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(31): Show | 34 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.11562-561_11562-55 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | INFO_REALIGN_3_PRIME | chr1 | 186116421 | |||||
| chr1:186116421
|
A | AATATAT | 9 | a0001c0027t0002g0088a0002c0007t0002g0025a0002c0007t0002g0029others(6): Show | 9 | HG01978.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.11562-563_11562-55 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | INFO_REALIGN_3_PRIME | chr1 | 186116421 | |||||
| chr1:186116423
|
T | TATAC | 3 | a0002c0004t0001g0050a0002c0004t0002g0023a0002c0004t0002g0024 | 3 | HG03540.hp2 NA19030.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.11562-568_11562-56 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | INFO_REALIGN_3_PRIME | chr1 | 186116423 | |||||
| chr1:186116512
|
G | A | 1 | a0006c0006t0005g0080 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.11562-482G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116512 | ||||||
| chr1:186116626
|
G | A | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.11562-368G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116626 | ||||||
| chr1:186116636
|
T | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11562-358T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116636 | ||||||
| chr1:186116765
|
C | A | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11562-229C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116765 | ||||||
| chr1:186116934
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.11562-60G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 75/106 | chr1 | 186116934 | ||||||
| chr1:186117292
|
T | G | 3 | a0001c0001t0001g0078a0002c0004t0001g0030a0007c0010t0001g0005 | 3 | HG02109.hp1 HG02280.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.11684-167T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 76/106 | chr1 | 186117292 | ||||||
| chr1:186117446
|
G | A | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11684-13G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 76/106 | chr1 | 186117446 | ||||||
| chr1:186117696
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.11848+73G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186117696 | ||||||
| chr1:186117938
|
T | A | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0046c0042t0001g0043 | 3 | HG03516.hp2 HG03942.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.11848+315T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186117938 | ||||||
| chr1:186118013
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.11848+390A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118013 | ||||||
| chr1:186118209
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.11848+586G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118209 | ||||||
| chr1:186118368
|
T | C | 2 | a0009c0050t0002g0048a0009c0052t0002g0077 | 2 | HG02622.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.11848+745T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118368 | ||||||
| chr1:186118412
|
G | C | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.11849-779G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118412 | ||||||
| chr1:186118870
|
T | C | 6 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056others(3): Show | 6 | HG00323.hp1 HG02622.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.11849-321T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118870 | ||||||
| chr1:186118931
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.11849-260T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118931 | ||||||
| chr1:186118971
|
C | T | 3 | a0018c0046t0001g0059a0034c0031t0001g0006a0035c0030t0001g0065 | 3 | HG02258.hp2 HG02809.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.11849-220C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186118971 | ||||||
| chr1:186119183
|
A | C | 9 | a0008c0009t0001g0084a0008c0009t0002g0085a0010c0051t0001g0047others(6): Show | 9 | HG00323.hp1 HG01069.hp1 HG02055.hp2 others(6): Show |
splice_region_variant&intron_variant | LOW | c.11849-8A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 77/106 | chr1 | 186119183 | ||||||
| chr1:186119524
|
G | A | 2 | a0034c0031t0001g0006a0035c0030t0001g0065 | 2 | HG02258.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.11957-221G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 78/106 | chr1 | 186119524 | ||||||
| chr1:186119637
|
C | T | 1 | a0002c0004t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.11957-108C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 78/106 | chr1 | 186119637 | ||||||
| chr1:186119940
|
G | A | 29 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(26): Show | 29 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(26): Show |
intron_variant | MODIFIER | c.12094+58G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 79/106 | chr1 | 186119940 | ||||||
| chr1:186119952
|
T | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.12095-59T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 79/106 | chr1 | 186119952 | ||||||
| chr1:186119980
|
T | C | 45 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(42): Show | 45 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.12095-31T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 79/106 | chr1 | 186119980 | ||||||
| chr1:186120225
|
A | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.12229+80A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186120225 | ||||||
| chr1:186120231
|
C | A | 46 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(43): Show | 46 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.12229+86C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186120231 | ||||||
| chr1:186120368
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.12229+223A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186120368 | ||||||
| chr1:186120515
|
C | T | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.12229+370C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186120515 | ||||||
| chr1:186121133
|
G | A | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.12229+988G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121133 | ||||||
| chr1:186121238
|
A | G | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12229+1093A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121238 | ||||||
| chr1:186121372
|
A | G | 1 | a0010c0053t0001g0079 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.12229+1227A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121372 | ||||||
| chr1:186121399
|
A | G | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.12229+1254A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121399 | ||||||
| chr1:186121614
|
A | G | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12230-1337A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121614 | ||||||
| chr1:186121681
|
G | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12230-1270G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121681 | ||||||
| chr1:186121890
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.12230-1061A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121890 | ||||||
| chr1:186121965
|
T | A | 2 | a0030c0021t0001g0067a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12230-986T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121965 | ||||||
| chr1:186121999
|
A | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.12230-952A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186121999 | ||||||
| chr1:186122422
|
A | G | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12230-529A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186122422 | ||||||
| chr1:186122424
|
A | G | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12230-527A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186122424 | ||||||
| chr1:186122617
|
G | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.12230-334G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186122617 | ||||||
| chr1:186122944
|
A | C | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
splice_region_variant&intron_variant | LOW | c.12230-7A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 80/106 | chr1 | 186122944 | ||||||
| chr1:186123346
|
G | T | 2 | a0030c0021t0001g0067a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12499+126G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186123346 | ||||||
| chr1:186123408
|
A | G | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12499+188A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186123408 | ||||||
| chr1:186123594
|
T | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.12499+374T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186123594 | ||||||
| chr1:186124426
|
T | G | 74 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(71): Show | 74 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.12500-1178T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124426 | ||||||
| chr1:186124458
|
G | C | 63 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(60): Show | 63 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.12500-1146G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124458 | ||||||
| chr1:186124553
|
C | G | 1 | a0002c0004t0002g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.12500-1051C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124553 | ||||||
| chr1:186124674
|
C | T | 3 | a0014c0013t0001g0056a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03516.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.12500-930C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124674 | ||||||
| chr1:186124723
|
A | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.12500-881A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124723 | ||||||
| chr1:186124841
|
T | C | 3 | a0001c0001t0001g0078a0002c0004t0001g0030a0007c0010t0001g0005 | 3 | HG02109.hp1 HG02280.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.12500-763T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124841 | ||||||
| chr1:186124898
|
T | C | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.12500-706T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186124898 | ||||||
| chr1:186125124
|
A | T | 10 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(7): Show | 10 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(7): Show |
intron_variant | MODIFIER | c.12500-480A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186125124 | ||||||
| chr1:186125128
|
A | G | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12500-476A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186125128 | ||||||
| chr1:186125289
|
A | C | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.12500-315A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 81/106 | chr1 | 186125289 | ||||||
| chr1:186125891
|
T | TA | 58 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(55): Show | 58 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.12690+105dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | INFO_REALIGN_3_PRIME | chr1 | 186125891 | |||||
| chr1:186125938
|
G | A | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12690+144G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186125938 | ||||||
| chr1:186126228
|
A | G | 1 | a0003c0003t0001g0051 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.12690+434A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186126228 | ||||||
| chr1:186126254
|
C | CAT | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12690+467_12690+46 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | INFO_REALIGN_3_PRIME | chr1 | 186126254 | |||||
| chr1:186126268
|
T | C | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12690+474T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186126268 | ||||||
| chr1:186126369
|
A | T | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12690+575A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186126369 | ||||||
| chr1:186126654
|
A | G | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.12690+860A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186126654 | ||||||
| chr1:186126790
|
A | G | 1 | a0005c0005t0003g0012 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.12690+996A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186126790 | ||||||
| chr1:186127014
|
ACT | A | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.12691-1061_12691-1 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | INFO_REALIGN_3_PRIME | chr1 | 186127014 | |||||
| chr1:186127082
|
G | C | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.12691-996G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127082 | ||||||
| chr1:186127144
|
C | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12691-934C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127144 | ||||||
| chr1:186127149
|
C | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.12691-929C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127149 | ||||||
| chr1:186127150
|
G | A | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.12691-928G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127150 | ||||||
| chr1:186127159
|
T | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12691-919T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127159 | ||||||
| chr1:186127208
|
T | C | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.12691-870T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127208 | ||||||
| chr1:186127218
|
A | C | 3 | a0015c0012t0008g0001a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG00323.hp1 HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.12691-860A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127218 | ||||||
| chr1:186127316
|
C | CTGA | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12691-760_12691-75 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | INFO_REALIGN_3_PRIME | chr1 | 186127316 | |||||
| chr1:186127827
|
A | T | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12691-251A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 82/106 | chr1 | 186127827 | ||||||
| chr1:186128407
|
G | T | 6 | a0014c0013t0001g0056a0015c0012t0008g0001a0017c0054t0003g0027others(3): Show | 6 | HG00323.hp1 HG01192.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.12904+116G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128407 | ||||||
| chr1:186128497
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.12904+206G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128497 | ||||||
| chr1:186128534
|
A | G | 60 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(57): Show | 60 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.12904+243A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128534 | ||||||
| chr1:186128679
|
G | A | 1 | a0027c0019t0001g0008 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.12904+388G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128679 | ||||||
| chr1:186128776
|
G | A | 50 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(47): Show | 50 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.12904+485G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128776 | ||||||
| chr1:186128786
|
C | T | 1 | a0037c0038t0001g0038 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.12904+495C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128786 | ||||||
| chr1:186128854
|
A | T | 2 | a0030c0021t0001g0067a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.12904+563A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186128854 | ||||||
| chr1:186128855
|
CTGTCAAT others(9): Show |
C | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.12904+566_12904+58 others(20): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186128855 | |||||
| chr1:186128959
|
G | GT | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12904+675dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186128959 | |||||
| chr1:186128981
|
TATGTTAA others(12): Show |
T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.12904+699_12904+71 others(23): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186128981 | |||||
| chr1:186129199
|
T | C | 2 | a0010c0051t0001g0047a0010c0053t0001g0079 | 2 | HG02622.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.12905-767T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186129199 | ||||||
| chr1:186129201
|
TA | T | 72 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(69): Show | 72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.12905-753delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186129201 | |||||
| chr1:186129294
|
T | A | 56 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(53): Show | 56 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.12905-672T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186129294 | ||||||
| chr1:186129363
|
TATAA | T | 2 | a0008c0009t0001g0084a0008c0009t0002g0085 | 2 | HG01069.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.12905-599_12905-59 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186129363 | |||||
| chr1:186129472
|
ATGT | A | 2 | a0003c0003t0001g0054a0033c0029t0001g0009 | 2 | HG00735.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.12905-486_12905-48 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186129472 | |||||
| chr1:186129656
|
C | CAGAG | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.12905-307_12905-30 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | INFO_REALIGN_3_PRIME | chr1 | 186129656 | |||||
| chr1:186129741
|
A | G | 1 | a0031c0023t0001g0074 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.12905-225A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 83/106 | chr1 | 186129741 | ||||||
| chr1:186130504
|
C | T | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | splice_region_variant&intron_variant | LOW | c.13040-3C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 84/106 | chr1 | 186130504 | ||||||
| chr1:186130748
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.13230+51C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | 186130748 | ||||||
| chr1:186131115
|
A | G | 58 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(55): Show | 58 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.13230+418A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | 186131115 | ||||||
| chr1:186131290
|
CATTGATT others(24): Show |
C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13230+594_13230+62 others(35): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | 186131290 | ||||||
| chr1:186131329
|
G | T | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13230+632G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | 186131329 | ||||||
| chr1:186132185
|
G | A | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.13231-143G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | 186132185 | ||||||
| chr1:186132437
|
C | T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.13312+28C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132437 | ||||||
| chr1:186132490
|
A | ATAGCAAG others(12): Show |
2 | a0016c0047t0001g0081a0026c0040t0003g0086 | 2 | HG01891.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.13312+82_13312+100 others(22): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186132490 | |||||
| chr1:186132606
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13312+197A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132606 | ||||||
| chr1:186132612
|
C | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(51): Show | 54 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.13312+203C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132612 | ||||||
| chr1:186132636
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.13312+227G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132636 | ||||||
| chr1:186132650
|
C | CT | 44 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(41): Show | 44 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.13312+251dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186132650 | |||||
| chr1:186132650
|
CT | C | 5 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(2): Show | 5 | HG01243.hp1 HG02055.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.13312+251delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186132650 | |||||
| chr1:186132721
|
A | T | 4 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(1): Show | 4 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.13312+312A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132721 | ||||||
| chr1:186132814
|
C | A | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.13312+405C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132814 | ||||||
| chr1:186132832
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(44): Show |
intron_variant | MODIFIER | c.13312+423C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132832 | ||||||
| chr1:186132833
|
C | A | 43 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(40): Show | 43 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.13312+424C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132833 | ||||||
| chr1:186132902
|
C | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(51): Show | 54 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.13312+493C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132902 | ||||||
| chr1:186132956
|
A | G | 54 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(51): Show | 54 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.13312+547A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186132956 | ||||||
| chr1:186133320
|
A | C | 1 | a0001c0001t0002g0021 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.13312+911A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133320 | ||||||
| chr1:186133414
|
T | G | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.13312+1005T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133414 | ||||||
| chr1:186133488
|
C | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13312+1079C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133488 | ||||||
| chr1:186133686
|
A | G | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13312+1277A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133686 | ||||||
| chr1:186133776
|
A | G | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.13312+1367A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133776 | ||||||
| chr1:186133812
|
G | GA | 55 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(52): Show | 55 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.13312+1409dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186133812 | |||||
| chr1:186133869
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13312+1460A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186133869 | ||||||
| chr1:186133898
|
A | ATTTC | 39 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(36): Show | 39 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.13312+1493_13312+1 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186133898 | |||||
| chr1:186134044
|
A | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13312+1635A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134044 | ||||||
| chr1:186134058
|
G | C | 1 | a0039c0033t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.13312+1649G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134058 | ||||||
| chr1:186134230
|
T | C | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.13312+1821T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134230 | ||||||
| chr1:186134268
|
A | G | 55 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(52): Show | 55 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.13312+1859A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134268 | ||||||
| chr1:186134289
|
G | T | 54 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(51): Show | 54 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.13312+1880G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134289 | ||||||
| chr1:186134636
|
C | A | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.13313-2032C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134636 | ||||||
| chr1:186134755
|
A | C | 59 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(56): Show | 59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.13313-1913A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134755 | ||||||
| chr1:186134773
|
A | G | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.13313-1895A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134773 | ||||||
| chr1:186134885
|
T | A | 1 | a0001c0001t0001g0035 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.13313-1783T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134885 | ||||||
| chr1:186134901
|
T | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.13313-1767T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134901 | ||||||
| chr1:186134906
|
T | C | 4 | a0014c0013t0001g0056a0023c0048t0002g0026a0030c0021t0001g0067others(1): Show | 4 | HG02809.hp1 HG03195.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.13313-1762T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134906 | ||||||
| chr1:186134942
|
C | T | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.13313-1726C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186134942 | ||||||
| chr1:186135356
|
C | T | 43 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(40): Show | 43 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.13313-1312C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135356 | ||||||
| chr1:186135422
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.13313-1246A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135422 | ||||||
| chr1:186135427
|
C | A | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.13313-1241C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135427 | ||||||
| chr1:186135438
|
A | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.13313-1230A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135438 | ||||||
| chr1:186135504
|
A | G | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13313-1164A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135504 | ||||||
| chr1:186135530
|
G | A | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.13313-1138G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135530 | ||||||
| chr1:186135679
|
C | T | 51 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(48): Show | 51 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.13313-989C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135679 | ||||||
| chr1:186135940
|
A | G | 4 | a0006c0006t0002g0053a0006c0006t0005g0080a0038c0036t0005g0033others(1): Show | 4 | HG00639.hp2 HG01516.hp2 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.13313-728A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135940 | ||||||
| chr1:186135943
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.13313-725A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186135943 | ||||||
| chr1:186136044
|
C | T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.13313-624C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186136044 | ||||||
| chr1:186136091
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.13313-577G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186136091 | ||||||
| chr1:186136175
|
C | CA | 58 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(55): Show | 58 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.13313-484dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | INFO_REALIGN_3_PRIME | chr1 | 186136175 | |||||
| chr1:186136264
|
T | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.13313-404T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186136264 | ||||||
| chr1:186136289
|
C | T | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.13313-379C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 86/106 | chr1 | 186136289 | ||||||
| chr1:186137048
|
G | A | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.13582+111G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 87/106 | chr1 | 186137048 | ||||||
| chr1:186137420
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.13583-78G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 87/106 | chr1 | 186137420 | ||||||
| chr1:186138023
|
C | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+51C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138023 | ||||||
| chr1:186138059
|
T | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+87T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138059 | ||||||
| chr1:186138223
|
T | C | 4 | a0001c0027t0002g0088a0002c0007t0002g0025a0002c0007t0002g0029others(1): Show | 4 | HG02809.hp2 HG02886.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.13924+251T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138223 | ||||||
| chr1:186138224
|
C | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+252C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138224 | ||||||
| chr1:186138406
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.13924+434C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138406 | ||||||
| chr1:186138443
|
T | C | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.13924+471T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138443 | ||||||
| chr1:186138501
|
A | G | 7 | a0015c0012t0008g0001a0016c0047t0001g0081a0017c0054t0003g0027others(4): Show | 7 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.13924+529A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138501 | ||||||
| chr1:186138706
|
T | C | 8 | a0002c0007t0006g0028a0015c0012t0008g0001a0016c0047t0001g0081others(5): Show | 8 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.13924+734T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138706 | ||||||
| chr1:186138757
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13924+785G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138757 | ||||||
| chr1:186138849
|
G | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.13924+877G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138849 | ||||||
| chr1:186138877
|
G | A | 11 | a0002c0007t0006g0028a0015c0012t0008g0001a0016c0047t0001g0081others(8): Show | 11 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.13924+905G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138877 | ||||||
| chr1:186138995
|
A | T | 70 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(67): Show | 70 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.13924+1023A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186138995 | ||||||
| chr1:186139009
|
C | T | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.13924+1037C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139009 | ||||||
| chr1:186139112
|
A | G | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+1140A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139112 | ||||||
| chr1:186139137
|
T | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+1165T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139137 | ||||||
| chr1:186139316
|
T | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+1344T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139316 | ||||||
| chr1:186139455
|
A | G | 50 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(47): Show | 50 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.13924+1483A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139455 | ||||||
| chr1:186139540
|
G | A | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.13924+1568G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139540 | ||||||
| chr1:186139612
|
A | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+1640A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139612 | ||||||
| chr1:186139738
|
G | A | 2 | a0016c0047t0001g0081a0026c0040t0003g0086 | 2 | HG01891.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.13924+1766G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186139738 | ||||||
| chr1:186140164
|
G | T | 61 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(58): Show | 61 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(58): Show |
intron_variant | MODIFIER | c.13924+2192G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140164 | ||||||
| chr1:186140290
|
G | A | 5 | a0013c0011t0004g0057a0013c0011t0004g0058a0023c0048t0002g0026others(2): Show | 5 | HG02258.hp1 HG02809.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.13924+2318G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140290 | ||||||
| chr1:186140296
|
T | C | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.13924+2324T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140296 | ||||||
| chr1:186140389
|
T | C | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13924+2417T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140389 | ||||||
| chr1:186140667
|
C | G | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.13924+2695C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140667 | ||||||
| chr1:186140693
|
T | A | 46 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(43): Show | 46 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.13924+2721T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140693 | ||||||
| chr1:186140977
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.13924+3005A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186140977 | ||||||
| chr1:186141156
|
A | G | 1 | a0005c0005t0003g0061 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.13925-3017A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141156 | ||||||
| chr1:186141185
|
C | T | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.13925-2988C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141185 | ||||||
| chr1:186141192
|
C | T | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.13925-2981C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141192 | ||||||
| chr1:186141211
|
A | C | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13925-2962A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141211 | ||||||
| chr1:186141233
|
T | TACAGATG others(43): Show |
1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13925-2923_13925-2 others(56): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | INFO_REALIGN_3_PRIME | chr1 | 186141233 | |||||
| chr1:186141425
|
C | T | 43 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(40): Show | 43 | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.13925-2748C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141425 | ||||||
| chr1:186141451
|
T | C | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.13925-2722T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141451 | ||||||
| chr1:186141555
|
C | A | 2 | a0016c0047t0001g0081a0026c0040t0003g0086 | 2 | HG01891.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.13925-2618C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141555 | ||||||
| chr1:186141556
|
A | G | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(19): Show |
intron_variant | MODIFIER | c.13925-2617A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141556 | ||||||
| chr1:186141649
|
A | G | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.13925-2524A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141649 | ||||||
| chr1:186141945
|
G | C | 66 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(63): Show | 66 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(63): Show |
intron_variant | MODIFIER | c.13925-2228G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141945 | ||||||
| chr1:186141977
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.13925-2196T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186141977 | ||||||
| chr1:186142049
|
G | T | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.13925-2124G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142049 | ||||||
| chr1:186142248
|
A | G | 60 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(57): Show | 60 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(57): Show |
intron_variant | MODIFIER | c.13925-1925A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142248 | ||||||
| chr1:186142260
|
G | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.13925-1913G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142260 | ||||||
| chr1:186142375
|
C | T | 1 | a0001c0015t0001g0045 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.13925-1798C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142375 | ||||||
| chr1:186142376
|
G | A | 1 | a0014c0013t0001g0056 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.13925-1797G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142376 | ||||||
| chr1:186142591
|
C | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.13925-1582C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142591 | ||||||
| chr1:186142631
|
C | T | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.13925-1542C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186142631 | ||||||
| chr1:186143174
|
A | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.13925-999A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186143174 | ||||||
| chr1:186143373
|
A | G | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.13925-800A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186143373 | ||||||
| chr1:186143478
|
A | G | 2 | a0016c0047t0001g0081a0026c0040t0003g0086 | 2 | HG01891.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.13925-695A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186143478 | ||||||
| chr1:186143742
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.13925-431G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186143742 | ||||||
| chr1:186144010
|
C | T | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.13925-163C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 89/106 | chr1 | 186144010 | ||||||
| chr1:186144720
|
G | C | 3 | a0001c0001t0002g0042a0006c0006t0001g0049a0032c0024t0001g0040 | 3 | HG01074.hp2 HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.14266+17G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186144720 | ||||||
| chr1:186144793
|
G | C | 4 | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(1): Show | 4 | HG01891.hp2 HG02976.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.14266+90G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186144793 | ||||||
| chr1:186144799
|
T | G | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.14266+96T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186144799 | ||||||
| chr1:186144965
|
T | C | 2 | a0025c0045t0001g0073a0026c0040t0003g0086 | 2 | NA19030.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.14266+262T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186144965 | ||||||
| chr1:186145142
|
C | T | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.14267-261C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145142 | ||||||
| chr1:186145179
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.14267-224G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145179 | ||||||
| chr1:186145183
|
G | T | 2 | a0007c0010t0002g0003a0034c0031t0001g0006 | 2 | HG02258.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.14267-220G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145183 | ||||||
| chr1:186145193
|
A | G | 46 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(43): Show | 46 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.14267-210A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145193 | ||||||
| chr1:186145211
|
T | G | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.14267-192T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145211 | ||||||
| chr1:186145236
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14267-167C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145236 | ||||||
| chr1:186145305
|
A | G | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.14267-98A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145305 | ||||||
| chr1:186145309
|
G | T | 9 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(6): Show | 9 | HG01099.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.14267-94G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | chr1 | 186145309 | ||||||
| chr1:186145311
|
CT | C | 65 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(62): Show | 65 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.14267-83delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 91/106 | INFO_REALIGN_3_PRIME | chr1 | 186145311 | |||||
| chr1:186145706
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-47T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145706 | ||||||
| chr1:186145707
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-46T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145707 | ||||||
| chr1:186145711
|
A | G | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-42A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145711 | ||||||
| chr1:186145712
|
A | C | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-41A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145712 | ||||||
| chr1:186145713
|
G | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-40G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145713 | ||||||
| chr1:186145714
|
C | T | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-39C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145714 | ||||||
| chr1:186145718
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-35T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145718 | ||||||
| chr1:186145719
|
T | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14438-34T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 92/106 | chr1 | 186145719 | ||||||
| chr1:186146029
|
G | GA | 12 | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0001t0002g0042others(9): Show | 12 | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(9): Show |
intron_variant | MODIFIER | c.14608+120dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186146029 | |||||
| chr1:186146029
|
GA | G | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.14608+120delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186146029 | |||||
| chr1:186146187
|
T | C | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.14608+264T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146187 | ||||||
| chr1:186146208
|
A | T | 8 | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0027t0002g0088others(5): Show | 8 | HG02109.hp2 HG02451.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.14608+285A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146208 | ||||||
| chr1:186146431
|
G | C | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG00323.hp1 HG01099.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.14608+508G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146431 | ||||||
| chr1:186146759
|
G | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.14608+836G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146759 | ||||||
| chr1:186146772
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.14608+849T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146772 | ||||||
| chr1:186146840
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.14608+917T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186146840 | ||||||
| chr1:186147354
|
A | G | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.14608+1431A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186147354 | ||||||
| chr1:186147390
|
CT | C | 52 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0075others(49): Show | 52 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.14608+1483delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186147390 | |||||
| chr1:186147390
|
CTT | C | 12 | a0001c0001t0001g0052a0004c0002t0001g0014a0004c0002t0001g0015others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.14608+1482_14608+1 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186147390 | |||||
| chr1:186147498
|
TATTAATA | T | 3 | a0001c0001t0001g0087a0001c0001t0002g0089a0001c0001t0002g0090 | 3 | HG01891.hp2 HG02976.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.14608+1578_14608+1 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186147498 | |||||
| chr1:186147633
|
C | T | 1 | a0003c0003t0001g0039 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.14608+1710C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186147633 | ||||||
| chr1:186147665
|
G | T | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(75): Show | 78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.14608+1742G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186147665 | ||||||
| chr1:186147788
|
TAA | T | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01099.hp2 HG01243.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.14608+1870_14608+1 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186147788 | |||||
| chr1:186148054
|
T | C | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14608+2131T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148054 | ||||||
| chr1:186148065
|
C | T | 1 | a0039c0033t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.14608+2142C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148065 | ||||||
| chr1:186148317
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.14608+2394G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148317 | ||||||
| chr1:186148351
|
A | G | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01099.hp2 HG01243.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.14608+2428A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148351 | ||||||
| chr1:186148423
|
G | A | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.14608+2500G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148423 | ||||||
| chr1:186148681
|
T | C | 6 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.14609-2519T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148681 | ||||||
| chr1:186148720
|
T | C | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.14609-2480T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186148720 | ||||||
| chr1:186148935
|
CT | C | 45 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(42): Show | 45 | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.14609-2249delT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186148935 | |||||
| chr1:186148935
|
CTT | C | 7 | a0001c0001t0001g0091a0001c0027t0002g0088a0002c0007t0002g0025others(4): Show | 7 | HG02886.hp2 HG02922.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.14609-2250_14609-2 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186148935 | |||||
| chr1:186149086
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.14609-2114T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149086 | ||||||
| chr1:186149105
|
A | G | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.14609-2095A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149105 | ||||||
| chr1:186149476
|
T | G | 8 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(5): Show | 8 | HG01074.hp2 HG01099.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.14609-1724T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149476 | ||||||
| chr1:186149522
|
C | G | 1 | a0002c0007t0006g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.14609-1678C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149522 | ||||||
| chr1:186149884
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.14609-1316C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149884 | ||||||
| chr1:186149924
|
T | C | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(75): Show | 78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.14609-1276T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186149924 | ||||||
| chr1:186150006
|
T | C | 1 | a0024c0044t0003g0071 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.14609-1194T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186150006 | ||||||
| chr1:186150051
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.14609-1149G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186150051 | ||||||
| chr1:186150082
|
A | C | 3 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061 | 3 | HG01243.hp1 HG02055.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.14609-1118A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186150082 | ||||||
| chr1:186150089
|
C | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.14609-1111C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186150089 | ||||||
| chr1:186150133
|
T | TA | 47 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(44): Show | 47 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.14609-1059dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | INFO_REALIGN_3_PRIME | chr1 | 186150133 | |||||
| chr1:186150835
|
C | T | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01099.hp2 HG01243.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.14609-365C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186150835 | ||||||
| chr1:186151007
|
T | G | 32 | a0001c0001t0002g0042a0004c0002t0001g0014a0004c0002t0001g0015others(29): Show | 32 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(29): Show |
intron_variant | MODIFIER | c.14609-193T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 93/106 | chr1 | 186151007 | ||||||
| chr1:186151553
|
T | A | 5 | a0008c0009t0001g0084a0010c0051t0001g0047a0010c0053t0001g0079others(2): Show | 5 | HG01069.hp1 HG02622.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.14759-53T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 94/106 | chr1 | 186151553 | ||||||
| chr1:186151769
|
C | A | 2 | a0010c0053t0001g0079a0014c0013t0001g0056 | 2 | HG02622.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.14896+26C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186151769 | ||||||
| chr1:186151850
|
G | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.14896+107G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186151850 | ||||||
| chr1:186152119
|
G | A | 27 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(24): Show | 27 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.14896+376G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186152119 | ||||||
| chr1:186152311
|
G | T | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.14897-439G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186152311 | ||||||
| chr1:186152610
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.14897-140C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186152610 | ||||||
| chr1:186152626
|
C | G | 1 | a0046c0042t0001g0043 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.14897-124C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 95/106 | chr1 | 186152626 | ||||||
| chr1:186153282
|
T | C | 6 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(3): Show | 6 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.15018+411T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | chr1 | 186153282 | ||||||
| chr1:186153399
|
A | C | 11 | a0001c0035t0001g0020a0002c0004t0001g0050a0002c0004t0002g0023others(8): Show | 11 | HG00639.hp2 HG01243.hp2 HG01516.hp2 others(8): Show |
intron_variant | MODIFIER | c.15019-351A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | chr1 | 186153399 | ||||||
| chr1:186153458
|
G | A | 1 | a0016c0047t0001g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.15019-292G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | chr1 | 186153458 | ||||||
| chr1:186153511
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15019-239T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | chr1 | 186153511 | ||||||
| chr1:186153545
|
T | C | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15019-205T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | chr1 | 186153545 | ||||||
| chr1:186153579
|
A | ATTAAATT others(55): Show |
1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15019-167_15019-10 others(66): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 96/106 | INFO_REALIGN_3_PRIME | chr1 | 186153579 | |||||
| chr1:186154526
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15256+539A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186154526 | ||||||
| chr1:186154563
|
A | C | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.15256+576A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186154563 | ||||||
| chr1:186154742
|
C | T | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.15256+755C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186154742 | ||||||
| chr1:186154763
|
A | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15256+776A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186154763 | ||||||
| chr1:186154843
|
G | A | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.15256+856G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186154843 | ||||||
| chr1:186155186
|
T | G | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15256+1199T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155186 | ||||||
| chr1:186155324
|
G | C | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15256+1337G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155324 | ||||||
| chr1:186155475
|
C | T | 1 | a0006c0006t0001g0049 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.15256+1488C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155475 | ||||||
| chr1:186155561
|
A | AAGTC | 6 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG00323.hp1 HG01192.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.15256+1576_15256+1 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186155561 | |||||
| chr1:186155665
|
C | T | 1 | a0001c0035t0001g0020 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.15256+1678C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155665 | ||||||
| chr1:186155693
|
C | T | 1 | a0041c0028t0006g0002 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.15256+1706C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155693 | ||||||
| chr1:186155696
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15256+1709T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155696 | ||||||
| chr1:186155958
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15256+1971C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186155958 | ||||||
| chr1:186156072
|
C | T | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15256+2085C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156072 | ||||||
| chr1:186156121
|
T | C | 3 | a0001c0001t0001g0091a0002c0007t0006g0028a0041c0028t0006g0002 | 3 | HG02809.hp2 HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.15256+2134T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156121 | ||||||
| chr1:186156704
|
C | A | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15256+2717C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156704 | ||||||
| chr1:186156855
|
A | G | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15256+2868A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156855 | ||||||
| chr1:186156957
|
C | T | 1 | a0029c0022t0001g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.15256+2970C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156957 | ||||||
| chr1:186156967
|
A | G | 67 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(64): Show | 67 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.15256+2980A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156967 | ||||||
| chr1:186156973
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15256+2986G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186156973 | ||||||
| chr1:186157202
|
C | T | 1 | a0004c0002t0001g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.15256+3215C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157202 | ||||||
| chr1:186157321
|
G | A | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.15256+3334G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157321 | ||||||
| chr1:186157384
|
A | G | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15256+3397A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157384 | ||||||
| chr1:186157647
|
G | T | 1 | a0004c0002t0001g0014 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.15256+3660G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157647 | ||||||
| chr1:186157661
|
G | A | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(75): Show | 78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.15256+3674G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157661 | ||||||
| chr1:186157727
|
G | A | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.15256+3740G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157727 | ||||||
| chr1:186157867
|
T | C | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15256+3880T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157867 | ||||||
| chr1:186157902
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15256+3915C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157902 | ||||||
| chr1:186157903
|
G | A | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.15256+3916G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157903 | ||||||
| chr1:186157906
|
T | G | 16 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(13): Show | 16 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.15256+3919T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157906 | ||||||
| chr1:186157981
|
G | A | 2 | a0001c0001t0001g0083a0045c0026t0001g0022 | 2 | HG02109.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.15256+3994G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186157981 | ||||||
| chr1:186158197
|
A | G | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15256+4210A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158197 | ||||||
| chr1:186158260
|
T | C | 4 | a0001c0001t0002g0042a0006c0006t0001g0049a0021c0057t0001g0019others(1): Show | 4 | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.15256+4273T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158260 | ||||||
| chr1:186158267
|
C | T | 7 | a0001c0015t0001g0045a0003c0003t0001g0051a0010c0051t0001g0047others(4): Show | 7 | HG01192.hp1 HG01261.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15256+4280C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158267 | ||||||
| chr1:186158351
|
A | G | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.15256+4364A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158351 | ||||||
| chr1:186158378
|
G | T | 41 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(38): Show | 41 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.15256+4391G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158378 | ||||||
| chr1:186158407
|
T | A | 10 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(7): Show | 10 | HG01099.hp1 HG02055.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.15256+4420T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158407 | ||||||
| chr1:186158463
|
T | G | 30 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(27): Show | 30 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.15256+4476T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158463 | ||||||
| chr1:186158468
|
T | C | 8 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(5): Show | 8 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.15256+4481T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158468 | ||||||
| chr1:186158707
|
G | A | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.15256+4720G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158707 | ||||||
| chr1:186158795
|
A | C | 1 | a0001c0001t0002g0042 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.15256+4808A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158795 | ||||||
| chr1:186158867
|
C | T | 18 | a0001c0001t0002g0032a0004c0002t0001g0014a0004c0002t0001g0015others(15): Show | 18 | HG01069.hp1 HG01069.hp2 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.15256+4880C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158867 | ||||||
| chr1:186158898
|
A | G | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.15256+4911A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158898 | ||||||
| chr1:186158904
|
G | T | 4 | a0001c0001t0002g0042a0006c0006t0001g0049a0021c0057t0001g0019others(1): Show | 4 | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.15256+4917G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186158904 | ||||||
| chr1:186159039
|
A | G | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15256+5052A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159039 | ||||||
| chr1:186159402
|
G | A | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.15256+5415G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159402 | ||||||
| chr1:186159404
|
C | G | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.15256+5417C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159404 | ||||||
| chr1:186159589
|
G | A | 2 | a0007c0010t0002g0003a0034c0031t0001g0006 | 2 | HG02258.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.15257-5522G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159589 | ||||||
| chr1:186159631
|
T | G | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15257-5480T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159631 | ||||||
| chr1:186159734
|
G | A | 3 | a0001c0001t0001g0078a0002c0004t0001g0030a0007c0010t0001g0005 | 3 | HG02109.hp1 HG02280.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.15257-5377G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159734 | ||||||
| chr1:186159751
|
T | G | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-5360T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159751 | ||||||
| chr1:186159803
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15257-5308G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159803 | ||||||
| chr1:186159892
|
T | C | 2 | a0001c0015t0001g0045a0003c0003t0001g0051 | 2 | HG01192.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.15257-5219T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186159892 | ||||||
| chr1:186160036
|
G | T | 1 | a0003c0043t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.15257-5075G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160036 | ||||||
| chr1:186160050
|
C | T | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15257-5061C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160050 | ||||||
| chr1:186160056
|
T | A | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15257-5055T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160056 | ||||||
| chr1:186160164
|
C | A | 41 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(38): Show | 41 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(38): Show |
intron_variant | MODIFIER | c.15257-4947C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160164 | ||||||
| chr1:186160203
|
T | A | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.15257-4908T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160203 | ||||||
| chr1:186160204
|
G | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-4907G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160204 | ||||||
| chr1:186160206
|
A | T | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.15257-4905A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160206 | ||||||
| chr1:186160256
|
C | G | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.15257-4855C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160256 | ||||||
| chr1:186160257
|
G | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.15257-4854G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160257 | ||||||
| chr1:186160275
|
A | G | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.15257-4836A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160275 | ||||||
| chr1:186160441
|
G | GTTA | 12 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(9): Show | 12 | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(9): Show |
intron_variant | MODIFIER | c.15257-4667_15257-4 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186160441 | |||||
| chr1:186160453
|
C | T | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.15257-4658C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160453 | ||||||
| chr1:186160462
|
G | A | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.15257-4649G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160462 | ||||||
| chr1:186160473
|
T | G | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15257-4638T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160473 | ||||||
| chr1:186160576
|
C | G | 3 | a0001c0001t0002g0004a0001c0001t0002g0021a0043c0025t0001g0007 | 3 | HG02615.hp2 HG03017.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.15257-4535C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160576 | ||||||
| chr1:186160591
|
T | A | 3 | a0001c0001t0002g0004a0001c0001t0002g0021a0043c0025t0001g0007 | 3 | HG02615.hp2 HG03017.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.15257-4520T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160591 | ||||||
| chr1:186160611
|
T | G | 3 | a0001c0001t0002g0004a0001c0001t0002g0021a0043c0025t0001g0007 | 3 | HG02615.hp2 HG03017.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.15257-4500T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160611 | ||||||
| chr1:186160629
|
T | C | 24 | a0002c0007t0002g0025a0004c0002t0001g0014a0004c0002t0001g0015others(21): Show | 24 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.15257-4482T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160629 | ||||||
| chr1:186160632
|
G | A | 16 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(13): Show | 16 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.15257-4479G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160632 | ||||||
| chr1:186160646
|
A | G | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15257-4465A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160646 | ||||||
| chr1:186160704
|
G | T | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.15257-4407G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160704 | ||||||
| chr1:186160800
|
C | T | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.15257-4311C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160800 | ||||||
| chr1:186160819
|
T | C | 44 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(41): Show | 44 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.15257-4292T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160819 | ||||||
| chr1:186160826
|
G | C | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.15257-4285G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160826 | ||||||
| chr1:186160841
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-4270G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186160841 | ||||||
| chr1:186161071
|
C | A | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.15257-4040C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161071 | ||||||
| chr1:186161090
|
G | T | 2 | a0030c0021t0001g0067a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.15257-4021G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161090 | ||||||
| chr1:186161321
|
T | C | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15257-3790T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161321 | ||||||
| chr1:186161345
|
A | G | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.15257-3766A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161345 | ||||||
| chr1:186161349
|
G | A | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.15257-3762G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161349 | ||||||
| chr1:186161352
|
G | A | 2 | a0006c0006t0005g0080a0038c0036t0005g0033 | 2 | HG00639.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.15257-3759G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161352 | ||||||
| chr1:186161362
|
G | A | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.15257-3749G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161362 | ||||||
| chr1:186161366
|
CTT | C | 16 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(13): Show | 16 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.15257-3743_15257-3 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186161366 | |||||
| chr1:186161444
|
T | A | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.15257-3667T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161444 | ||||||
| chr1:186161453
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-3658A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161453 | ||||||
| chr1:186161453
|
A | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-3658A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161453 | ||||||
| chr1:186161550
|
A | G | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-3561A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161550 | ||||||
| chr1:186161560
|
A | G | 24 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(21): Show | 24 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.15257-3551A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161560 | ||||||
| chr1:186161603
|
T | C | 2 | a0011c0008t0001g0069a0011c0008t0001g0070 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.15257-3508T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161603 | ||||||
| chr1:186161783
|
G | C | 4 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056others(1): Show | 4 | HG02622.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.15257-3328G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161783 | ||||||
| chr1:186161811
|
C | G | 6 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.15257-3300C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161811 | ||||||
| chr1:186161920
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-3191T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161920 | ||||||
| chr1:186161931
|
T | C | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15257-3180T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161931 | ||||||
| chr1:186161932
|
G | A | 13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.15257-3179G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161932 | ||||||
| chr1:186161957
|
C | T | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.15257-3154C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186161957 | ||||||
| chr1:186162084
|
G | A | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.15257-3027G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162084 | ||||||
| chr1:186162112
|
C | T | 1 | a0002c0007t0006g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.15257-2999C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162112 | ||||||
| chr1:186162150
|
C | T | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.15257-2961C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162150 | ||||||
| chr1:186162205
|
T | C | 2 | a0016c0047t0001g0081a0028c0020t0002g0068 | 2 | HG01891.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.15257-2906T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162205 | ||||||
| chr1:186162206
|
G | A | 2 | a0016c0047t0001g0081a0028c0020t0002g0068 | 2 | HG01891.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.15257-2905G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162206 | ||||||
| chr1:186162210
|
C | T | 4 | a0001c0001t0002g0042a0006c0006t0001g0049a0021c0057t0001g0019others(1): Show | 4 | HG01074.hp2 HG01261.hp2 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.15257-2901C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162210 | ||||||
| chr1:186162211
|
G | A | 2 | a0016c0047t0001g0081a0028c0020t0002g0068 | 2 | HG01891.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.15257-2900G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162211 | ||||||
| chr1:186162238
|
G | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15257-2873G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162238 | ||||||
| chr1:186162247
|
G | A | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.15257-2864G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162247 | ||||||
| chr1:186162267
|
A | G | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15257-2844A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162267 | ||||||
| chr1:186162284
|
T | C | 31 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(28): Show | 31 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.15257-2827T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162284 | ||||||
| chr1:186162323
|
A | AT | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.15257-2780dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186162323 | |||||
| chr1:186162413
|
A | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-2698A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162413 | ||||||
| chr1:186162416
|
C | T | 3 | a0006c0006t0002g0053a0006c0006t0005g0080a0038c0036t0005g0033 | 3 | HG00639.hp2 HG01516.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.15257-2695C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162416 | ||||||
| chr1:186162474
|
T | TGGA | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15257-2632_15257-2 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186162474 | |||||
| chr1:186162537
|
T | C | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-2574T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162537 | ||||||
| chr1:186162657
|
T | C | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.15257-2454T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162657 | ||||||
| chr1:186162734
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-2377C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162734 | ||||||
| chr1:186162735
|
G | A | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15257-2376G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162735 | ||||||
| chr1:186162762
|
G | A | 1 | a0002c0007t0002g0029 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.15257-2349G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162762 | ||||||
| chr1:186162855
|
G | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-2256G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162855 | ||||||
| chr1:186162908
|
C | T | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(14): Show |
intron_variant | MODIFIER | c.15257-2203C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162908 | ||||||
| chr1:186162909
|
G | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-2202G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186162909 | ||||||
| chr1:186163035
|
G | A | 4 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056others(1): Show | 4 | HG02622.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.15257-2076G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163035 | ||||||
| chr1:186163044
|
C | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-2067C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163044 | ||||||
| chr1:186163117
|
G | A | 8 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(5): Show | 8 | HG01192.hp2 HG02258.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.15257-1994G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163117 | ||||||
| chr1:186163242
|
T | G | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-1869T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163242 | ||||||
| chr1:186163319
|
G | C | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15257-1792G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163319 | ||||||
| chr1:186163374
|
C | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15257-1737C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163374 | ||||||
| chr1:186163388
|
G | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-1723G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163388 | ||||||
| chr1:186163394
|
C | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-1717C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163394 | ||||||
| chr1:186163403
|
C | T | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.15257-1708C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163403 | ||||||
| chr1:186163422
|
C | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15257-1689C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163422 | ||||||
| chr1:186163423
|
A | G | 31 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(28): Show | 31 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.15257-1688A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163423 | ||||||
| chr1:186163506
|
T | C | 24 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(21): Show | 24 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.15257-1605T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163506 | ||||||
| chr1:186163652
|
T | C | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.15257-1459T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163652 | ||||||
| chr1:186163886
|
C | T | 16 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(13): Show | 16 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.15257-1225C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186163886 | ||||||
| chr1:186164125
|
T | C | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15257-986T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164125 | ||||||
| chr1:186164134
|
G | A | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.15257-977G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164134 | ||||||
| chr1:186164140
|
C | T | 1 | a0022c0049t0001g0037 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.15257-971C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164140 | ||||||
| chr1:186164158
|
C | A | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15257-953C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164158 | ||||||
| chr1:186164191
|
G | A | 31 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(28): Show | 31 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.15257-920G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164191 | ||||||
| chr1:186164240
|
C | CTTTTTT | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.15257-859_15257-85 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186164240 | |||||
| chr1:186164240
|
C | CTTTTTTT | 9 | a0010c0053t0001g0079a0015c0012t0008g0001a0016c0047t0001g0081others(6): Show | 9 | HG00323.hp1 HG01192.hp2 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.15257-860_15257-85 others(11): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186164240 | |||||
| chr1:186164240
|
C | CTTTTTTT others(1): Show |
13 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(10): Show | 13 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.15257-861_15257-85 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | INFO_REALIGN_3_PRIME | chr1 | 186164240 | |||||
| chr1:186164270
|
C | T | 2 | a0001c0001t0001g0075a0025c0045t0001g0073 | 2 | HG01099.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.15257-841C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164270 | ||||||
| chr1:186164388
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-723T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164388 | ||||||
| chr1:186164397
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-714A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164397 | ||||||
| chr1:186164400
|
T | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15257-711T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164400 | ||||||
| chr1:186164647
|
T | A | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15257-464T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164647 | ||||||
| chr1:186164752
|
T | C | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.15257-359T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164752 | ||||||
| chr1:186164766
|
G | A | 5 | a0001c0027t0002g0088a0010c0051t0001g0047a0010c0053t0001g0079others(2): Show | 5 | HG02622.hp2 HG03225.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.15257-345G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164766 | ||||||
| chr1:186164842
|
G | C | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15257-269G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 97/106 | chr1 | 186164842 | ||||||
| chr1:186165273
|
T | G | 6 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG00323.hp1 HG01192.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.15319+100T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186165273 | ||||||
| chr1:186165429
|
C | T | 14 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(11): Show | 14 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.15319+256C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186165429 | ||||||
| chr1:186165509
|
C | T | 4 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056others(1): Show | 4 | HG02622.hp2 HG03225.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.15319+336C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186165509 | ||||||
| chr1:186165894
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.15320-290G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186165894 | ||||||
| chr1:186165949
|
C | G | 19 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(16): Show | 19 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.15320-235C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186165949 | ||||||
| chr1:186166099
|
A | C | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.15320-85A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186166099 | ||||||
| chr1:186166104
|
G | A | 42 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(39): Show | 42 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(39): Show |
intron_variant | MODIFIER | c.15320-80G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 98/106 | chr1 | 186166104 | ||||||
| chr1:186166425
|
A | G | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15439+122A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 99/106 | chr1 | 186166425 | ||||||
| chr1:186166560
|
T | G | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15440-248T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 99/106 | chr1 | 186166560 | ||||||
| chr1:186166674
|
C | G | 1 | a0023c0048t0002g0026 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.15440-134C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 99/106 | chr1 | 186166674 | ||||||
| chr1:186166775
|
C | T | 2 | a0023c0048t0002g0026a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.15440-33C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 99/106 | chr1 | 186166775 | ||||||
| chr1:186167037
|
G | A | 1 | a0047c0014t0001g0055 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.15574+95G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167037 | ||||||
| chr1:186167157
|
T | C | 46 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(43): Show | 46 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.15574+215T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167157 | ||||||
| chr1:186167375
|
A | C | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15574+433A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167375 | ||||||
| chr1:186167387
|
T | G | 23 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(20): Show | 23 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(20): Show |
intron_variant | MODIFIER | c.15574+445T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167387 | ||||||
| chr1:186167440
|
T | C | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15574+498T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167440 | ||||||
| chr1:186167457
|
G | A | 5 | a0001c0001t0001g0083a0023c0048t0002g0026a0030c0021t0001g0067others(2): Show | 5 | HG02109.hp2 HG02451.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.15574+515G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167457 | ||||||
| chr1:186167548
|
G | T | 2 | a0016c0047t0001g0081a0028c0020t0002g0068 | 2 | HG01891.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.15574+606G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167548 | ||||||
| chr1:186167866
|
A | G | 12 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(9): Show | 12 | HG01074.hp2 HG01099.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.15574+924A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167866 | ||||||
| chr1:186167996
|
G | A | 8 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(5): Show | 8 | HG01099.hp2 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.15574+1054G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186167996 | ||||||
| chr1:186168061
|
T | C | 2 | a0001c0001t0002g0089a0001c0001t0002g0090 | 2 | HG01891.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.15574+1119T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168061 | ||||||
| chr1:186168335
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15574+1393C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168335 | ||||||
| chr1:186168336
|
C | A | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15574+1394C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168336 | ||||||
| chr1:186168340
|
C | T | 2 | a0023c0048t0002g0026a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.15574+1398C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168340 | ||||||
| chr1:186168447
|
C | CA | 4 | a0003c0003t0001g0054a0008c0009t0001g0084a0015c0012t0008g0001others(1): Show | 4 | HG00323.hp1 HG00735.hp2 HG01069.hp1 others(1): Show |
intron_variant | MODIFIER | c.15574+1520dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | INFO_REALIGN_3_PRIME | chr1 | 186168447 | |||||
| chr1:186168447
|
CA | C | 8 | a0001c0001t0002g0004a0006c0006t0002g0053a0006c0006t0005g0080others(5): Show | 8 | HG00639.hp2 HG01516.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.15574+1520delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | INFO_REALIGN_3_PRIME | chr1 | 186168447 | |||||
| chr1:186168487
|
GTAAGT | G | 77 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(74): Show | 77 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(74): Show |
intron_variant | MODIFIER | c.15574+1554_15574+1 others(11): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | INFO_REALIGN_3_PRIME | chr1 | 186168487 | |||||
| chr1:186168549
|
C | CA | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15574+1608dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | INFO_REALIGN_3_PRIME | chr1 | 186168549 | |||||
| chr1:186168558
|
A | G | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.15574+1616A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168558 | ||||||
| chr1:186168592
|
G | A | 22 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(19): Show | 22 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.15574+1650G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168592 | ||||||
| chr1:186168724
|
T | C | 1 | a0044c0041t0001g0060 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.15574+1782T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168724 | ||||||
| chr1:186168760
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15574+1818G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186168760 | ||||||
| chr1:186169131
|
G | A | 2 | a0006c0006t0005g0080a0038c0036t0005g0033 | 2 | HG00639.hp2 HG01516.hp2 |
intron_variant | MODIFIER | c.15574+2189G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186169131 | ||||||
| chr1:186169423
|
A | G | 43 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(40): Show | 43 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.15575-1914A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186169423 | ||||||
| chr1:186169426
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15575-1911A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186169426 | ||||||
| chr1:186169523
|
A | G | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15575-1814A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186169523 | ||||||
| chr1:186169772
|
C | T | 22 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(19): Show | 22 | HG00639.hp2 HG01074.hp2 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.15575-1565C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186169772 | ||||||
| chr1:186170050
|
C | T | 1 | a0004c0002t0001g0072 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.15575-1287C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170050 | ||||||
| chr1:186170575
|
G | A | 2 | a0023c0048t0002g0026a0035c0030t0001g0065 | 2 | HG02809.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.15575-762G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170575 | ||||||
| chr1:186170590
|
T | C | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.15575-747T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170590 | ||||||
| chr1:186170645
|
G | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15575-692G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170645 | ||||||
| chr1:186170819
|
A | G | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15575-518A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170819 | ||||||
| chr1:186170967
|
G | A | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.15575-370G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186170967 | ||||||
| chr1:186171038
|
G | A | 5 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(2): Show | 5 | HG01192.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.15575-299G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186171038 | ||||||
| chr1:186171183
|
A | C | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.15575-154A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186171183 | ||||||
| chr1:186171294
|
G | T | 1 | a0007c0010t0002g0003 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.15575-43G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 100/106 | chr1 | 186171294 | ||||||
| chr1:186171610
|
C | CTA | 46 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(43): Show | 46 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(43): Show |
intron_variant | MODIFIER | c.15688+161_15688+16 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 101/106 | INFO_REALIGN_3_PRIME | chr1 | 186171610 | |||||
| chr1:186171775
|
A | G | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15689-231A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 101/106 | chr1 | 186171775 | ||||||
| chr1:186172169
|
G | A | 78 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(75): Show | 78 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(75): Show |
intron_variant | MODIFIER | c.15814+38G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172169 | ||||||
| chr1:186172171
|
C | T | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.15814+40C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172171 | ||||||
| chr1:186172312
|
C | T | 1 | a0043c0025t0001g0007 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.15814+181C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172312 | ||||||
| chr1:186172644
|
A | G | 1 | a0013c0011t0004g0057 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.15814+513A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172644 | ||||||
| chr1:186172704
|
G | T | 14 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(11): Show | 14 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.15814+573G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172704 | ||||||
| chr1:186172814
|
C | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.15814+683C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172814 | ||||||
| chr1:186172847
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15814+716G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172847 | ||||||
| chr1:186172941
|
A | G | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15814+810A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172941 | ||||||
| chr1:186172962
|
A | C | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.15814+831A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186172962 | ||||||
| chr1:186173201
|
C | A | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.15814+1070C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186173201 | ||||||
| chr1:186173640
|
C | CAAAA | 21 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(18): Show | 21 | HG01099.hp2 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.15815-862_15815-85 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | INFO_REALIGN_3_PRIME | chr1 | 186173640 | |||||
| chr1:186173640
|
C | CAAAAA | 17 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(14): Show | 17 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.15815-863_15815-85 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | INFO_REALIGN_3_PRIME | chr1 | 186173640 | |||||
| chr1:186173640
|
C | CAAAAAA | 4 | a0006c0006t0002g0053a0006c0006t0005g0080a0026c0040t0003g0086others(1): Show | 4 | HG00639.hp2 HG01516.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.15815-864_15815-85 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | INFO_REALIGN_3_PRIME | chr1 | 186173640 | |||||
| chr1:186173920
|
T | C | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15815-594T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186173920 | ||||||
| chr1:186173950
|
T | C | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15815-564T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186173950 | ||||||
| chr1:186173964
|
A | G | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15815-550A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186173964 | ||||||
| chr1:186174335
|
TA | T | 2 | a0012c0016t0001g0044a0012c0017t0001g0062 | 2 | HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.15815-177delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | INFO_REALIGN_3_PRIME | chr1 | 186174335 | |||||
| chr1:186174401
|
A | G | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15815-113A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 102/106 | chr1 | 186174401 | ||||||
| chr1:186174683
|
G | A | 1 | a0038c0036t0005g0033 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.15943+41G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186174683 | ||||||
| chr1:186174776
|
G | A | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15943+134G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186174776 | ||||||
| chr1:186174796
|
T | A | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.15943+154T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186174796 | ||||||
| chr1:186174972
|
A | C | 45 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(42): Show | 45 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.15943+330A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186174972 | ||||||
| chr1:186175209
|
C | T | 17 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(14): Show | 17 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.15943+567C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175209 | ||||||
| chr1:186175608
|
C | A | 1 | a0019c0056t0001g0018 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.15943+966C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175608 | ||||||
| chr1:186175640
|
A | T | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15943+998A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175640 | ||||||
| chr1:186175641
|
T | A | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15943+999T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175641 | ||||||
| chr1:186175643
|
C | T | 7 | a0006c0006t0002g0053a0006c0006t0005g0080a0010c0051t0001g0047others(4): Show | 7 | HG00639.hp2 HG01516.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.15943+1001C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175643 | ||||||
| chr1:186175824
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15943+1182C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175824 | ||||||
| chr1:186175876
|
C | CAA | 13 | a0002c0004t0001g0030a0005c0005t0003g0011a0005c0005t0003g0012others(10): Show | 13 | HG01069.hp1 HG01243.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.15943+1248_15943+1 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186175876 | |||||
| chr1:186175876
|
C | CAAA | 7 | a0001c0001t0001g0078a0001c0001t0001g0082a0002c0007t0006g0028others(4): Show | 7 | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.15943+1247_15943+1 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186175876 | |||||
| chr1:186175876
|
C | CAAAA | 12 | a0001c0001t0001g0075a0001c0001t0002g0042a0004c0002t0001g0014others(9): Show | 12 | HG01074.hp2 HG01099.hp1 HG01099.hp2 others(9): Show |
intron_variant | MODIFIER | c.15943+1246_15943+1 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186175876 | |||||
| chr1:186175891
|
A | AAG | 7 | a0006c0006t0005g0080a0008c0009t0002g0085a0017c0054t0003g0027others(4): Show | 7 | HG00639.hp2 HG01192.hp2 HG01516.hp2 others(4): Show |
intron_variant | MODIFIER | c.15943+1249_15943+1 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175891 | ||||||
| chr1:186175892
|
G | A | 39 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(36): Show | 39 | HG00639.hp2 HG01069.hp1 HG01074.hp2 others(36): Show |
intron_variant | MODIFIER | c.15943+1250G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175892 | ||||||
| chr1:186175892
|
G | GA | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.15943+1253dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186175892 | |||||
| chr1:186175896
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15943+1254G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186175896 | ||||||
| chr1:186176333
|
C | T | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15943+1691C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176333 | ||||||
| chr1:186176485
|
C | T | 1 | a0026c0040t0003g0086 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.15943+1843C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176485 | ||||||
| chr1:186176512
|
C | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15943+1870C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176512 | ||||||
| chr1:186176517
|
G | C | 3 | a0006c0006t0001g0049a0021c0057t0001g0019a0032c0024t0001g0040 | 3 | HG01261.hp2 HG01516.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.15943+1875G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176517 | ||||||
| chr1:186176764
|
GAAACATA | G | 2 | a0021c0057t0001g0019a0025c0045t0001g0073 | 2 | NA20129.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.15944-1634_15944-1 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186176764 | |||||
| chr1:186176784
|
T | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.15944-1632T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176784 | ||||||
| chr1:186176785
|
A | G | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.15944-1631A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176785 | ||||||
| chr1:186176794
|
G | T | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.15944-1622G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176794 | ||||||
| chr1:186176795
|
G | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.15944-1621G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186176795 | ||||||
| chr1:186176795
|
G | GAAACATA | 20 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(17): Show | 20 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(17): Show |
intron_variant | MODIFIER | c.15944-1610_15944-1 others(13): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186176795 | |||||
| chr1:186176907
|
GCCTGTAA others(129): Show |
G | 21 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(18): Show | 21 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.15944-1378_15944-1 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186176907 | |||||
| chr1:186177038
|
G | C | 19 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(16): Show | 19 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.15944-1378G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177038 | ||||||
| chr1:186177043
|
A | G | 19 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(16): Show | 19 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.15944-1373A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177043 | ||||||
| chr1:186177166
|
C | T | 12 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(9): Show | 12 | HG01069.hp1 HG01099.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.15944-1250C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177166 | ||||||
| chr1:186177171
|
T | G | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.15944-1245T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177171 | ||||||
| chr1:186177179
|
A | G | 21 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(18): Show | 21 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(18): Show |
intron_variant | MODIFIER | c.15944-1237A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177179 | ||||||
| chr1:186177303
|
C | CA | 13 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(10): Show | 13 | HG01074.hp2 HG01099.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.15944-1096dupA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186177303 | |||||
| chr1:186177303
|
CA | C | 56 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(53): Show | 56 | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(53): Show |
intron_variant | MODIFIER | c.15944-1096delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186177303 | |||||
| chr1:186177319
|
A | AG | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.15944-1097_15944-1 others(7): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177319 | ||||||
| chr1:186177464
|
G | A | 1 | a0042c0037t0001g0034 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.15944-952G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177464 | ||||||
| chr1:186177603
|
T | A | 3 | a0023c0048t0002g0026a0030c0021t0001g0067a0035c0030t0001g0065 | 3 | HG02809.hp1 HG03195.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.15944-813T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177603 | ||||||
| chr1:186177654
|
A | AT | 3 | a0010c0051t0001g0047a0010c0053t0001g0079a0014c0013t0001g0056 | 3 | HG02622.hp2 HG03225.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.15944-762_15944-76 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177654 | ||||||
| chr1:186177670
|
A | T | 91 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.15944-746A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177670 | ||||||
| chr1:186177765
|
AAG | A | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-645_15944-64 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186177765 | |||||
| chr1:186177992
|
T | C | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-424T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186177992 | ||||||
| chr1:186178116
|
C | T | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-300C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178116 | ||||||
| chr1:186178129
|
T | C | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-287T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178129 | ||||||
| chr1:186178140
|
G | T | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-276G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178140 | ||||||
| chr1:186178180
|
G | A | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15944-236G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178180 | ||||||
| chr1:186178185
|
G | C | 1 | a0015c0012t0008g0001 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.15944-231G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178185 | ||||||
| chr1:186178239
|
T | C | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-177T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178239 | ||||||
| chr1:186178250
|
A | T | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-166A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178250 | ||||||
| chr1:186178256
|
G | C | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.15944-160G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178256 | ||||||
| chr1:186178272
|
A | G | 11 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(8): Show | 11 | HG01069.hp1 HG01099.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.15944-144A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178272 | ||||||
| chr1:186178349
|
T | A | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.15944-67T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | chr1 | 186178349 | ||||||
| chr1:186178379
|
C | CT | 7 | a0001c0001t0001g0087a0001c0001t0002g0089a0001c0001t0002g0090others(4): Show | 7 | HG00323.hp1 HG01192.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.15944-28dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 103/106 | INFO_REALIGN_3_PRIME | chr1 | 186178379 | |||||
| chr1:186179382
|
C | T | 16 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(13): Show | 16 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(13): Show |
intron_variant | MODIFIER | c.16294+616C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179382 | ||||||
| chr1:186179414
|
C | A | 18 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(15): Show | 18 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.16294+648C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179414 | ||||||
| chr1:186179482
|
A | AT | 14 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(11): Show | 14 | HG01069.hp1 HG01099.hp2 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.16294+720dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | INFO_REALIGN_3_PRIME | chr1 | 186179482 | |||||
| chr1:186179685
|
C | T | 3 | a0006c0006t0001g0049a0021c0057t0001g0019a0032c0024t0001g0040 | 3 | HG01261.hp2 HG01516.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.16294+919C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179685 | ||||||
| chr1:186179722
|
T | A | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.16294+956T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179722 | ||||||
| chr1:186179763
|
A | AT | 30 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(27): Show | 30 | HG01069.hp1 HG01074.hp2 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.16294+1005dupT | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | INFO_REALIGN_3_PRIME | chr1 | 186179763 | |||||
| chr1:186179885
|
G | A | 33 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(30): Show |
intron_variant | MODIFIER | c.16294+1119G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179885 | ||||||
| chr1:186179900
|
G | A | 25 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0052others(22): Show | 25 | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.16294+1134G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179900 | ||||||
| chr1:186179908
|
A | C | 32 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(29): Show | 32 | HG01069.hp1 HG01074.hp2 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.16294+1142A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186179908 | ||||||
| chr1:186180103
|
C | T | 30 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(27): Show | 30 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(27): Show |
intron_variant | MODIFIER | c.16294+1337C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186180103 | ||||||
| chr1:186180572
|
A | G | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.16295-1596A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186180572 | ||||||
| chr1:186180878
|
CACA | C | 24 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | HG01069.hp1 HG01074.hp2 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.16295-1285_16295-1 others(9): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | INFO_REALIGN_3_PRIME | chr1 | 186180878 | |||||
| chr1:186181192
|
C | G | 1 | a0001c0001t0002g0004 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.16295-976C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181192 | ||||||
| chr1:186181286
|
C | G | 1 | a0010c0051t0001g0047 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.16295-882C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181286 | ||||||
| chr1:186181492
|
G | A | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.16295-676G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181492 | ||||||
| chr1:186181545
|
G | T | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.16295-623G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181545 | ||||||
| chr1:186181753
|
T | A | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.16295-415T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181753 | ||||||
| chr1:186181904
|
G | A | 1 | a0001c0027t0002g0088 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.16295-264G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181904 | ||||||
| chr1:186181990
|
A | G | 2 | a0006c0006t0001g0049a0032c0024t0001g0040 | 2 | HG01261.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.16295-178A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186181990 | ||||||
| chr1:186182045
|
CAT | C | 2 | a0002c0007t0002g0025a0002c0007t0002g0029 | 2 | HG02886.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.16295-122_16295-12 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 104/106 | chr1 | 186182045 | ||||||
| chr1:186182346
|
T | G | 1 | a0003c0018t0002g0046 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.16414+59T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186182346 | ||||||
| chr1:186182361
|
C | G | 33 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(30): Show | 33 | HG00323.hp1 HG01069.hp1 HG01074.hp2 others(30): Show |
intron_variant | MODIFIER | c.16414+74C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186182361 | ||||||
| chr1:186182717
|
A | G | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.16414+430A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186182717 | ||||||
| chr1:186183233
|
T | G | 3 | a0008c0009t0002g0085a0017c0054t0003g0027a0024c0044t0003g0071 | 3 | HG01192.hp2 HG03041.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.16414+946T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183233 | ||||||
| chr1:186183247
|
T | G | 1 | a0040c0034t0001g0031 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.16414+960T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183247 | ||||||
| chr1:186183302
|
A | G | 6 | a0008c0009t0002g0085a0013c0011t0004g0057a0013c0011t0004g0058others(3): Show | 6 | HG00323.hp1 HG01192.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.16414+1015A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183302 | ||||||
| chr1:186183456
|
C | T | 1 | a0007c0010t0001g0005 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.16414+1169C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183456 | ||||||
| chr1:186183467
|
A | G | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.16414+1180A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183467 | ||||||
| chr1:186183553
|
A | T | 2 | a0013c0011t0004g0057a0013c0011t0004g0058 | 2 | HG02258.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.16414+1266A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183553 | ||||||
| chr1:186183604
|
A | G | 1 | a0008c0009t0001g0084 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.16414+1317A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183604 | ||||||
| chr1:186183725
|
G | T | 1 | a0025c0045t0001g0073 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.16414+1438G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186183725 | ||||||
| chr1:186184077
|
C | G | 1 | a0030c0021t0001g0067 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.16414+1790C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186184077 | ||||||
| chr1:186184149
|
T | A | 4 | a0008c0009t0002g0085a0015c0012t0008g0001a0017c0054t0003g0027others(1): Show | 4 | HG00323.hp1 HG01192.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.16414+1862T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186184149 | ||||||
| chr1:186184177
|
T | C | 1 | a0021c0057t0001g0019 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.16414+1890T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186184177 | ||||||
| chr1:186184379
|
C | T | 18 | a0004c0002t0001g0014a0004c0002t0001g0015a0004c0002t0001g0016others(15): Show | 18 | HG00323.hp1 HG01069.hp1 HG01099.hp2 others(15): Show |
intron_variant | MODIFIER | c.16414+2092C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186184379 | ||||||
| chr1:186184486
|
A | G | 14 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(11): Show | 14 | HG01074.hp2 HG01099.hp1 HG01261.hp2 others(11): Show |
intron_variant | MODIFIER | c.16414+2199A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186184486 | ||||||
| chr1:186184664
|
A | ATTAC | 40 | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0082others(37): Show | 40 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.16414+2381_16414+2 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186184664 | |||||
| chr1:186185131
|
T | C | 1 | a0011c0008t0001g0070 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.16415-2752T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185131 | ||||||
| chr1:186185132
|
A | G | 1 | a0009c0050t0002g0048 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.16415-2751A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185132 | ||||||
| chr1:186185227
|
G | A | 21 | a0001c0001t0001g0083a0002c0007t0006g0028a0004c0002t0001g0014others(18): Show | 21 | HG01069.hp1 HG01099.hp2 HG01192.hp2 others(18): Show |
intron_variant | MODIFIER | c.16415-2656G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185227 | ||||||
| chr1:186185425
|
T | A | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.16415-2458T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185425 | ||||||
| chr1:186185435
|
A | C | 1 | a0035c0030t0001g0065 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.16415-2448A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185435 | ||||||
| chr1:186185597
|
G | T | 2 | a0017c0054t0003g0027a0024c0044t0003g0071 | 2 | HG01192.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.16415-2286G>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185597 | ||||||
| chr1:186185636
|
T | C | 4 | a0001c0015t0001g0045a0003c0003t0001g0051a0006c0006t0002g0053others(1): Show | 4 | HG01192.hp1 HG01261.hp1 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.16415-2247T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185636 | ||||||
| chr1:186185684
|
G | A | 32 | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0087others(29): Show | 32 | HG00323.hp2 HG00639.hp1 HG01192.hp1 others(29): Show |
intron_variant | MODIFIER | c.16415-2199G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185684 | ||||||
| chr1:186185784
|
G | A | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.16415-2099G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186185784 | ||||||
| chr1:186186026
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.16415-1857G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186026 | ||||||
| chr1:186186155
|
G | A | 1 | a0032c0024t0001g0040 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.16415-1728G>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186155 | ||||||
| chr1:186186397
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.16415-1486C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186397 | ||||||
| chr1:186186410
|
T | C | 21 | a0001c0001t0001g0083a0001c0027t0002g0088a0002c0007t0002g0025others(18): Show | 21 | HG00639.hp2 HG01069.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.16415-1473T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186410 | ||||||
| chr1:186186423
|
T | A | 51 | a0001c0001t0001g0083a0001c0001t0002g0004a0001c0001t0002g0021others(48): Show | 51 | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.16415-1460T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186423 | ||||||
| chr1:186186483
|
C | T | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.16415-1400C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186483 | ||||||
| chr1:186186560
|
C | T | 18 | a0001c0001t0001g0083a0001c0027t0002g0088a0002c0007t0002g0025others(15): Show | 18 | HG01069.hp1 HG01074.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.16415-1323C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186560 | ||||||
| chr1:186186920
|
A | G | 15 | a0001c0001t0001g0083a0003c0003t0001g0063a0006c0006t0005g0080others(12): Show | 15 | HG00639.hp2 HG01069.hp1 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.16415-963A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186920 | ||||||
| chr1:186186991
|
GTC | G | 7 | a0001c0001t0001g0082a0004c0002t0001g0015a0004c0002t0001g0016others(4): Show | 7 | HG01099.hp2 HG02280.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.16415-889_16415-88 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186991 | |||||
| chr1:186186992
|
T | TCACACAC others(1): Show |
2 | a0042c0037t0001g0034a0046c0042t0001g0043 | 2 | HG00323.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.16415-890_16415-88 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186992 | |||||
| chr1:186186992
|
TCTCA | T | 2 | a0015c0012t0008g0001a0030c0021t0001g0067 | 2 | HG00323.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.16415-889_16415-88 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186992 | |||||
| chr1:186186992
|
TCTCACA | T | 4 | a0004c0002t0001g0014a0004c0002t0001g0017a0004c0002t0001g0072others(1): Show | 4 | HG02451.hp2 HG02886.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.16415-889_16415-88 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186992 | |||||
| chr1:186186994
|
T | A | 9 | a0001c0001t0002g0042a0001c0015t0001g0045a0003c0003t0001g0051others(6): Show | 9 | HG00323.hp2 HG01074.hp2 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.16415-889T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186186994 | ||||||
| chr1:186186994
|
T | TCA | 7 | a0005c0005t0003g0011a0005c0005t0003g0012a0006c0006t0002g0053others(4): Show | 7 | HG01243.hp1 HG02486.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.16415-847_16415-84 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
T | TCACA | 3 | a0001c0001t0002g0032a0001c0035t0001g0020a0037c0038t0001g0038 | 3 | HG01069.hp2 HG01243.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.16415-849_16415-84 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
T | TCACACA | 5 | a0001c0001t0002g0021a0002c0007t0002g0029a0003c0018t0002g0046others(2): Show | 5 | HG02040.hp1 HG02622.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.16415-851_16415-84 others(10): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
T | TCACACAC others(1): Show |
10 | a0001c0001t0001g0010a0001c0001t0001g0078a0001c0001t0001g0087others(7): Show | 10 | HG00639.hp1 HG01891.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.16415-853_16415-84 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
T | TCACACAC others(3): Show |
5 | a0001c0001t0001g0035a0002c0004t0002g0024a0023c0048t0002g0026others(2): Show | 5 | HG02040.hp2 HG03195.hp1 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.16415-855_16415-84 others(14): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
T | TCACACAC others(5): Show |
2 | a0002c0004t0002g0023a0011c0008t0001g0070 | 2 | HG03195.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.16415-857_16415-84 others(16): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
TCA | T | 4 | a0002c0004t0001g0050a0016c0047t0001g0081a0017c0054t0003g0027others(1): Show | 4 | HG01891.hp1 HG02258.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.16415-847_16415-84 others(6): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
TCACA | T | 3 | a0001c0001t0001g0091a0003c0003t0001g0054a0044c0041t0001g0060 | 3 | HG00735.hp2 HG01978.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.16415-849_16415-84 others(8): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186186994
|
TCACACAC others(1): Show |
T | 19 | a0001c0001t0001g0083a0001c0027t0002g0088a0002c0007t0002g0025others(16): Show | 19 | HG00639.hp2 HG01069.hp1 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.16415-853_16415-84 others(12): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | INFO_REALIGN_3_PRIME | chr1 | 186186994 | |||||
| chr1:186187034
|
A | G | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.16415-849A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187034 | ||||||
| chr1:186187037
|
C | T | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.16415-846C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187037 | ||||||
| chr1:186187219
|
A | C | 2 | a0001c0001t0002g0042a0003c0018t0002g0046 | 2 | HG01074.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.16415-664A>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187219 | ||||||
| chr1:186187233
|
A | AT | 76 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0078others(73): Show | 76 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.16415-650_16415-64 others(5): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187233 | ||||||
| chr1:186187382
|
C | T | 84 | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0078others(81): Show | 84 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.16415-501C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187382 | ||||||
| chr1:186187488
|
C | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16415-395C>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187488 | ||||||
| chr1:186187656
|
T | A | 1 | a0008c0009t0002g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16415-227T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 105/106 | chr1 | 186187656 | ||||||
| chr1:186188028
|
T | A | 1 | a0029c0022t0001g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.16541+19T>A | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188028 | ||||||
| chr1:186188052
|
T | G | 10 | a0001c0015t0001g0045a0003c0003t0001g0051a0007c0010t0001g0005others(7): Show | 10 | HG00323.hp1 HG01192.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.16541+43T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188052 | ||||||
| chr1:186188142
|
A | G | 1 | a0006c0006t0002g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.16541+133A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188142 | ||||||
| chr1:186188239
|
C | G | 1 | a0003c0003t0001g0039 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.16541+230C>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188239 | ||||||
| chr1:186188249
|
A | G | 3 | a0006c0006t0005g0080a0038c0036t0005g0033a0046c0042t0001g0043 | 3 | HG00639.hp2 HG01516.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.16541+240A>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188249 | ||||||
| chr1:186188694
|
G | C | 1 | a0034c0031t0001g0006 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.16541+685G>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188694 | ||||||
| chr1:186188790
|
GA | G | 6 | a0005c0005t0003g0011a0005c0005t0003g0012a0005c0005t0003g0061others(3): Show | 6 | HG01192.hp2 HG01243.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.16542-721delA | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188790 | ||||||
| chr1:186188959
|
A | T | 2 | a0018c0046t0001g0059a0025c0045t0001g0073 | 2 | HG03139.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.16542-553A>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186188959 | ||||||
| chr1:186189016
|
C | T | 2 | a0002c0004t0001g0030a0011c0008t0001g0069 | 2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.16542-496C>T | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186189016 | ||||||
| chr1:186189095
|
T | C | 1 | a0011c0008t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.16542-417T>C | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186189095 | ||||||
| chr1:186189267
|
T | G | 4 | a0001c0027t0002g0088a0002c0007t0002g0025a0002c0007t0006g0028others(1): Show | 4 | HG02809.hp2 HG03041.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.16542-245T>G | HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 106/106 | chr1 | 186189267 |