Item | Value |
---|---|
geneid | 11190 |
ensemblid | ENSG00000126001.17 |
hgncid | 1859 |
symbol | CEP250 |
name | centrosomal protein 250 |
refseq_nuc | NM_007186.6 |
refseq_prot | NP_009117.2 |
ensembl_nuc | ENST00000397527.6 |
ensembl_prot | ENSP00000380661.1 |
mane_status | MANE Select |
chr | chr20 |
start | 35455598 |
end | 35519280 |
strand | + |
ver | v1.2 |
region | chr20:35455598-35519280 |
region5000 | chr20:35450598-35524280 |
regionname0 | CEP250_chr20_35455598_35519280 |
regionname5000 | CEP250_chr20_35450598_35524280 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 2442 | 178 | 46 | 36 | 53 | 9 | 32 | 45 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0002 | 0/0 | 2442 | 44 | 14 | 7 | 19 | 1 | 3 | 14 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0003 | 0/0 | 2442 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0004 | 0/0 | 2442 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0005 | 0/0 | 2442 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0006 | 0/0 | 2442 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0007 | 0/0 | 2442 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0008 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0009 | 0/0 | 2442 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0010 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0011 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0012 | 0/0 | 2442 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0013 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0014 | 0/0 | 2442 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0015 | 0/0 | 2442 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0016 | 0/0 | 2442 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0017 | 0/0 | 2442 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0018 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0019 | 0/0 | 2442 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
a0020 | 0/0 | 2442 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | METRS others(2437): Show |
chr20 | 35450598 | 35524280 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 7326 | 137 | 33 | 32 | 40 | 8 | 24 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0003 | 0/0 | 7326 | 26 | 3 | 2 | 13 | 0 | 8 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0005 | 0/0 | 7326 | 6 | 4 | 2 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0011 | 0/0 | 7326 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0017 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0018 | 1/0 | 7326 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0019 | 0/1 | 7326 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0021 | 0/0 | 7326 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0022 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0026 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0001c0029 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0002c0002 | 0/0 | 7326 | 41 | 14 | 7 | 16 | 1 | 3 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0002c0009 | 0/0 | 7326 | 3 | 0 | 0 | 3 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0003c0004 | 0/0 | 7326 | 7 | 7 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0003c0013 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0004c0006 | 0/0 | 7326 | 6 | 6 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0005c0007 | 0/0 | 7326 | 5 | 5 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0006c0010 | 0/0 | 7326 | 3 | 3 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0007c0008 | 0/0 | 7326 | 3 | 0 | 0 | 3 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0008c0012 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0009c0023 | 0/0 | 7326 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0010c0031 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0011c0014 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0012c0027 | 0/0 | 7326 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0013c0016 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0014c0025 | 0/0 | 7326 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0015c0024 | 0/0 | 7326 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0016c0015 | 0/0 | 7326 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0017c0020 | 0/0 | 7326 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0018c0032 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0019c0028 | 0/0 | 7326 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 | ||
a0020c0030 | 0/0 | 7326 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | ATGGA others(7321): Show |
chr20 | 35450598 | 35524280 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 15434 | 72 | 19 | 20 | 21 | 5 | 7 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0002 | 0/0 | 15435 | 3 | 0 | 2 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0003 | 0/0 | 15435 | 16 | 5 | 4 | 0 | 1 | 6 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0005 | 0/0 | 15435 | 8 | 1 | 0 | 3 | 0 | 4 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0011 | 0/0 | 15435 | 4 | 0 | 0 | 0 | 0 | 4 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0012 | 0/0 | 15434 | 4 | 0 | 2 | 0 | 0 | 2 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0013 | 0/0 | 15433 | 3 | 0 | 0 | 3 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15428): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0014 | 0/0 | 15437 | 2 | 0 | 0 | 2 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15432): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0017 | 0/0 | 15434 | 2 | 0 | 0 | 0 | 2 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0018 | 0/0 | 15435 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0019 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0028 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0029 | 0/0 | 15434 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0031 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0032 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0033 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0034 | 0/0 | 15432 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15427): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0035 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0036 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0037 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0039 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0041 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0043 | 0/0 | 15435 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0045 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0047 | 0/0 | 15436 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0048 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0051 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0053 | 0/0 | 15436 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0065 | 0/0 | 15433 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15428): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0066 | 0/0 | 15433 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15428): Show |
chr20 | 35450598 | 35524280 |
a0001c0001t0067 | 0/0 | 15433 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15428): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0003 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0004 | 0/0 | 15434 | 13 | 0 | 1 | 11 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0007 | 0/0 | 15434 | 7 | 0 | 1 | 0 | 0 | 6 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0046 | 0/0 | 15434 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0049 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0050 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0052 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0003t0060 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0005t0010 | 0/0 | 15438 | 5 | 3 | 2 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15433): Show |
chr20 | 35450598 | 35524280 |
a0001c0005t0064 | 0/0 | 15438 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15433): Show |
chr20 | 35450598 | 35524280 |
a0001c0011t0023 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0011t0062 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0017t0063 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0018t0054 | 1/0 | 15434 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0019t0026 | 0/1 | 15433 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15428): Show |
chr20 | 35450598 | 35524280 |
a0001c0021t0002 | 0/0 | 15435 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0001c0022t0056 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0026t0019 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0001c0029t0038 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0002 | 0/0 | 15435 | 30 | 14 | 6 | 6 | 1 | 3 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0008 | 0/0 | 15434 | 5 | 0 | 0 | 5 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0015 | 0/0 | 15436 | 2 | 0 | 0 | 2 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0016 | 0/0 | 15434 | 2 | 0 | 1 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0040 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0002c0002t0042 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0002c0009t0002 | 0/0 | 15435 | 3 | 0 | 0 | 3 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0003c0004t0006 | 0/0 | 15436 | 6 | 6 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0003c0004t0025 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0003c0013t0006 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0004c0006t0009 | 0/0 | 15436 | 5 | 5 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0004c0006t0044 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0005c0007t0021 | 0/0 | 15435 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0005c0007t0022 | 0/0 | 15434 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0005c0007t0061 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0006c0010t0020 | 0/0 | 15435 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0006c0010t0059 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0007c0008t0001 | 0/0 | 15434 | 3 | 0 | 0 | 3 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0008c0012t0024 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0009c0023t0027 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0010c0031t0001 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0011c0014t0055 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
a0012c0027t0058 | 0/0 | 15434 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0013c0016t0023 | 0/0 | 15435 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0014c0025t0030 | 0/0 | 15434 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0015c0024t0005 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0016c0015t0002 | 0/0 | 15435 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15430): Show |
chr20 | 35450598 | 35524280 |
a0017c0020t0008 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0018c0032t0001 | 0/0 | 15434 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0019c0028t0001 | 0/0 | 15434 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15429): Show |
chr20 | 35450598 | 35524280 |
a0020c0030t0057 | 0/0 | 15436 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | AGTCC others(15431): Show |
chr20 | 35450598 | 35524280 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 5 | 0 | 1 | 4 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0002 | 0/0 | 5 | 0 | 1 | 3 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0004 | 0/0 | 4 | 1 | 1 | 1 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0015 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0016 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0017 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0003g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0003 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0005g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0011g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0011g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0011g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0011g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0012g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0012g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0012g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0012g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0013g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0013g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0013g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0014g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0014g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0017g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0017g0128 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0018g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0018g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0019g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0028g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0029g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0031g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0032g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0033g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0034g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0035g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0036g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0037g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0039g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0041g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0043g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0045g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0047g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0048g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0051g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0053g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0065g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0066g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0001t0067g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0004g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0007g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0046g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0049g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0050g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0052g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0003t0060g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0010g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0010g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0010g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0010g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0010g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0005t0064g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0011t0023g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0011t0062g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0017t0063g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0018t0054g0030 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0019t0026g0142 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0021t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0022t0056g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0026t0019g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0001c0029t0038g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0008g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0008g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0008g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0008g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0008g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0015g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0015g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0016g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0016g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0040g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0002t0042g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0009t0002g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0002c0009t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0006g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0004t0025g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0003c0013t0006g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0009g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0009g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0009g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0009g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0009g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0004c0006t0044g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0005c0007t0021g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0005c0007t0021g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0005c0007t0022g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0005c0007t0022g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0005c0007t0061g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0006c0010t0020g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0006c0010t0020g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0006c0010t0059g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0007c0008t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0007c0008t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0007c0008t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0008c0012t0024g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0009c0023t0027g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0010c0031t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0011c0014t0055g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0012c0027t0058g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0013c0016t0023g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0014c0025t0030g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0015c0024t0005g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0016c0015t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0017c0020t0008g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0018c0032t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0019c0028t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
a0020c0030t0057g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | GBR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00099 | hp2 | a0001 | c0001 | t0003 | g0085 | EUR | GBR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00140 | hp1 | a0001 | c0001 | t0001 | g0181 | EUR | GBR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00140 | hp2 | a0001 | c0021 | t0002 | g0024 | EUR | GBR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00423 | hp1 | a0002 | c0002 | t0008 | g0012 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00423 | hp2 | a0001 | c0003 | t0060 | g0110 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00597 | hp1 | a0002 | c0002 | t0002 | g0051 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00597 | hp2 | a0001 | c0001 | t0035 | g0005 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00639 | hp1 | a0001 | c0001 | t0003 | g0087 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0201 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00642 | hp1 | a0002 | c0002 | t0002 | g0008 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00642 | hp2 | a0001 | c0001 | t0003 | g0013 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00673 | hp2 | a0001 | c0001 | t0005 | g0104 | EAS | CHS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00738 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00741 | hp1 | a0002 | c0002 | t0002 | g0075 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0176 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0173 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01070 | hp2 | a0002 | c0002 | t0016 | g0062 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01071 | hp1 | a0002 | c0002 | t0002 | g0060 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01071 | hp2 | a0001 | c0001 | t0012 | g0174 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01081 | hp1 | a0001 | c0001 | t0003 | g0013 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01081 | hp2 | a0001 | c0001 | t0034 | g0163 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01099 | hp1 | a0002 | c0002 | t0002 | g0008 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01099 | hp2 | a0001 | c0001 | t0001 | g0200 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01106 | hp1 | a0001 | c0001 | t0012 | g0167 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0209 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01109 | hp2 | a0001 | c0005 | t0010 | g0138 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01167 | hp2 | a0001 | c0001 | t0003 | g0027 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01168 | hp2 | a0001 | c0001 | t0053 | g0091 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0193 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01175 | hp1 | a0001 | c0003 | t0007 | g0129 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01192 | hp2 | a0001 | c0001 | t0043 | g0099 | AMR | PUR | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01261 | hp1 | a0001 | c0005 | t0010 | g0139 | AMR | CLM | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01261 | hp2 | a0002 | c0002 | t0002 | g0047 | AMR | CLM | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | CLM | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01433 | hp2 | a0002 | c0002 | t0002 | g0063 | AMR | CLM | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01515 | hp1 | a0001 | c0001 | t0017 | g0128 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01515 | hp2 | a0001 | c0001 | t0001 | g0170 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01516 | hp1 | a0002 | c0002 | t0002 | g0055 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0017 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01517 | hp1 | a0001 | c0001 | t0017 | g0127 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0017 | EUR | IBS | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01884 | hp1 | a0004 | c0006 | t0009 | g0019 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01884 | hp2 | a0001 | c0001 | t0041 | g0045 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01891 | hp1 | a0003 | c0013 | t0006 | g0029 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01891 | hp2 | a0008 | c0012 | t0024 | g0074 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0210 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01934 | hp2 | a0001 | c0001 | t0002 | g0100 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0211 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01981 | hp1 | a0001 | c0001 | t0029 | g0171 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0212 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG01993 | hp2 | a0001 | c0003 | t0004 | g0109 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02015 | hp2 | a0002 | c0009 | t0002 | g0011 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02040 | hp2 | a0002 | c0009 | t0002 | g0061 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02083 | hp1 | a0001 | c0001 | t0066 | g0178 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02083 | hp2 | a0002 | c0002 | t0008 | g0067 | EAS | KHV | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02145 | hp1 | a0002 | c0002 | t0002 | g0071 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02145 | hp2 | a0001 | c0001 | t0051 | g0093 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02165 | hp1 | a0009 | c0023 | t0027 | g0185 | EAS | CDX | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02165 | hp2 | a0001 | c0003 | t0004 | g0125 | EAS | CDX | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02257 | hp1 | a0001 | c0001 | t0005 | g0059 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02257 | hp2 | a0001 | c0001 | t0018 | g0144 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02258 | hp1 | a0010 | c0031 | t0001 | g0187 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02258 | hp2 | a0001 | c0003 | t0050 | g0106 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02280 | hp1 | a0011 | c0014 | t0055 | g0028 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0186 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02300 | hp1 | a0012 | c0027 | t0058 | g0114 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02300 | hp2 | a0001 | c0001 | t0001 | g0225 | AMR | PEL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02451 | hp1 | a0002 | c0002 | t0002 | g0082 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02451 | hp2 | a0013 | c0016 | t0023 | g0043 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02572 | hp1 | a0004 | c0006 | t0044 | g0022 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02572 | hp2 | a0001 | c0011 | t0023 | g0042 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02602 | hp1 | a0001 | c0003 | t0007 | g0119 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02602 | hp2 | a0001 | c0001 | t0003 | g0095 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02615 | hp1 | a0003 | c0004 | t0006 | g0035 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02622 | hp1 | a0004 | c0006 | t0009 | g0021 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02622 | hp2 | a0003 | c0004 | t0006 | g0032 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02630 | hp1 | a0002 | c0002 | t0002 | g0009 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02630 | hp2 | a0005 | c0007 | t0021 | g0131 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02698 | hp1 | a0001 | c0001 | t0011 | g0156 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02698 | hp2 | a0001 | c0001 | t0003 | g0097 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02717 | hp1 | a0003 | c0004 | t0006 | g0037 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02717 | hp2 | a0006 | c0010 | t0059 | g0040 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02723 | hp1 | a0001 | c0001 | t0019 | g0153 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02723 | hp2 | a0004 | c0006 | t0009 | g0023 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02738 | hp1 | a0001 | c0003 | t0004 | g0107 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0166 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02809 | hp1 | a0005 | c0007 | t0061 | g0014 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0199 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02818 | hp1 | a0001 | c0001 | t0045 | g0092 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02886 | hp1 | a0005 | c0007 | t0022 | g0132 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02886 | hp2 | a0003 | c0004 | t0006 | g0036 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02895 | hp1 | a0001 | c0005 | t0010 | g0141 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0198 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02896 | hp1 | a0001 | c0001 | t0018 | g0145 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02896 | hp2 | a0001 | c0001 | t0003 | g0086 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02897 | hp1 | a0001 | c0001 | t0003 | g0088 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02897 | hp2 | a0001 | c0005 | t0010 | g0140 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02965 | hp2 | a0001 | c0017 | t0063 | g0072 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02970 | hp1 | a0001 | c0001 | t0039 | g0056 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0189 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03017 | hp1 | a0001 | c0001 | t0005 | g0073 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03017 | hp2 | a0001 | c0001 | t0003 | g0090 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03041 | hp1 | a0001 | c0003 | t0003 | g0108 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0188 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03098 | hp1 | a0001 | c0022 | t0056 | g0222 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0206 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03130 | hp1 | a0001 | c0001 | t0003 | g0044 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03130 | hp2 | a0001 | c0003 | t0049 | g0230 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03139 | hp1 | a0002 | c0002 | t0002 | g0054 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03139 | hp2 | a0004 | c0006 | t0009 | g0018 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03195 | hp1 | a0002 | c0002 | t0002 | g0076 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03195 | hp2 | a0002 | c0002 | t0002 | g0079 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03209 | hp1 | a0003 | c0004 | t0006 | g0033 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03209 | hp2 | a0005 | c0007 | t0021 | g0014 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03225 | hp1 | a0002 | c0002 | t0002 | g0083 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03225 | hp2 | a0001 | c0001 | t0003 | g0232 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03239 | hp1 | a0001 | c0001 | t0012 | g0220 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03239 | hp2 | a0001 | c0001 | t0047 | g0094 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03453 | hp2 | a0002 | c0002 | t0002 | g0009 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03486 | hp1 | a0004 | c0006 | t0009 | g0020 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03486 | hp2 | a0001 | c0001 | t0001 | g0207 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03490 | hp1 | a0002 | c0002 | t0002 | g0068 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03490 | hp2 | a0001 | c0003 | t0007 | g0120 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03491 | hp1 | a0001 | c0001 | t0011 | g0154 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03491 | hp2 | a0001 | c0001 | t0005 | g0010 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03492 | hp1 | a0001 | c0003 | t0007 | g0116 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03492 | hp2 | a0001 | c0001 | t0005 | g0003 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03516 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03516 | hp2 | a0002 | c0002 | t0002 | g0046 | AFR | ESN | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03540 | hp1 | a0005 | c0007 | t0022 | g0130 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03579 | hp1 | a0002 | c0002 | t0002 | g0065 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03579 | hp2 | a0001 | c0005 | t0064 | g0136 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03669 | hp1 | a0001 | c0001 | t0012 | g0172 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03669 | hp2 | a0001 | c0001 | t0003 | g0096 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03688 | hp1 | a0001 | c0001 | t0003 | g0084 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03688 | hp2 | a0014 | c0025 | t0030 | g0183 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03704 | hp1 | a0002 | c0002 | t0002 | g0058 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03704 | hp2 | a0001 | c0003 | t0007 | g0115 | SAS | PJL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | BEB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03927 | hp2 | a0001 | c0003 | t0046 | g0126 | SAS | BEB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03942 | hp1 | a0002 | c0002 | t0002 | g0052 | SAS | BEB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04115 | hp1 | a0001 | c0003 | t0007 | g0117 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0226 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04199 | hp1 | a0001 | c0001 | t0011 | g0155 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04199 | hp2 | a0001 | c0003 | t0007 | g0123 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04204 | hp1 | a0001 | c0001 | t0011 | g0150 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0148 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04228 | hp1 | a0001 | c0001 | t0005 | g0070 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG04228 | hp2 | a0001 | c0001 | t0003 | g0098 | SAS | STU | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18522 | hp2 | a0001 | c0001 | t0003 | g0231 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0190 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18906 | hp2 | a0002 | c0002 | t0002 | g0078 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18943 | hp1 | a0001 | c0001 | t0014 | g0003 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18943 | hp2 | a0001 | c0001 | t0067 | g0195 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18945 | hp1 | a0001 | c0003 | t0052 | g0113 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18946 | hp2 | a0002 | c0002 | t0015 | g0066 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18948 | hp1 | a0015 | c0024 | t0005 | g0077 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18949 | hp1 | a0001 | c0001 | t0013 | g0228 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18949 | hp2 | a0001 | c0001 | t0005 | g0041 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18951 | hp1 | a0002 | c0002 | t0016 | g0007 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18951 | hp2 | a0001 | c0003 | t0004 | g0124 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18952 | hp1 | a0001 | c0001 | t0065 | g0152 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18952 | hp2 | a0001 | c0001 | t0014 | g0010 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18953 | hp2 | a0016 | c0015 | t0002 | g0102 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18957 | hp1 | a0007 | c0008 | t0001 | g0168 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18957 | hp2 | a0001 | c0001 | t0028 | g0227 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18961 | hp1 | a0001 | c0001 | t0037 | g0229 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18961 | hp2 | a0001 | c0003 | t0004 | g0006 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18967 | hp1 | a0002 | c0002 | t0015 | g0134 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18967 | hp2 | a0007 | c0008 | t0001 | g0202 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18969 | hp2 | a0002 | c0002 | t0002 | g0048 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18971 | hp2 | a0001 | c0003 | t0004 | g0111 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18974 | hp2 | a0001 | c0003 | t0004 | g0121 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18978 | hp1 | a0001 | c0001 | t0033 | g0005 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18978 | hp2 | a0002 | c0002 | t0002 | g0105 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18979 | hp1 | a0002 | c0002 | t0002 | g0012 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18983 | hp1 | a0002 | c0002 | t0008 | g0069 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18986 | hp1 | a0002 | c0002 | t0008 | g0080 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18986 | hp2 | a0001 | c0003 | t0004 | g0118 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18988 | hp1 | a0007 | c0008 | t0001 | g0157 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18988 | hp2 | a0001 | c0001 | t0002 | g0103 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18992 | hp1 | a0001 | c0001 | t0031 | g0208 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18992 | hp2 | a0001 | c0003 | t0004 | g0025 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18993 | hp1 | a0017 | c0020 | t0008 | g0064 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18993 | hp2 | a0001 | c0001 | t0013 | g0216 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19000 | hp2 | a0002 | c0002 | t0002 | g0049 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19004 | hp2 | a0001 | c0003 | t0004 | g0122 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19009 | hp2 | a0001 | c0001 | t0005 | g0003 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19030 | hp1 | a0003 | c0004 | t0025 | g0034 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0162 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19043 | hp1 | a0001 | c0005 | t0010 | g0137 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19043 | hp2 | a0018 | c0032 | t0001 | g0204 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19057 | hp1 | a0001 | c0001 | t0013 | g0165 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19057 | hp2 | a0002 | c0009 | t0002 | g0011 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19060 | hp2 | a0001 | c0003 | t0004 | g0112 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19064 | hp1 | a0001 | c0003 | t0004 | g0006 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19064 | hp2 | a0019 | c0028 | t0001 | g0177 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19066 | hp1 | a0002 | c0002 | t0008 | g0053 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19067 | hp1 | a0001 | c0001 | t0032 | g0194 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19067 | hp2 | a0001 | c0003 | t0004 | g0026 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19079 | hp1 | a0002 | c0002 | t0002 | g0050 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19089 | hp1 | a0001 | c0001 | t0036 | g0169 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19089 | hp2 | a0002 | c0002 | t0040 | g0007 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19240 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | YRI | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA20129 | hp1 | a0002 | c0002 | t0002 | g0135 | AFR | ASW | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | ASW | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0158 | SAS | GIH | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0197 | SAS | GIH | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02109 | hp1 | a0003 | c0004 | t0006 | g0031 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0217 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02486 | hp1 | a0001 | c0029 | t0038 | g0223 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02486 | hp2 | a0006 | c0010 | t0020 | g0038 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02559 | hp1 | a0001 | c0011 | t0062 | g0133 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG02559 | hp2 | a0006 | c0010 | t0020 | g0039 | AFR | ACB | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03471 | hp1 | a0001 | c0026 | t0019 | g0221 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
HG03471 | hp2 | a0001 | c0001 | t0048 | g0089 | AFR | MSL | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA18955 | hp2 | a0002 | c0002 | t0042 | g0057 | EAS | JPT | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA21309 | hp1 | a0020 | c0030 | t0057 | g0224 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
NA21309 | hp2 | a0002 | c0002 | t0002 | g0081 | AFR | LWK | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
homoSapiens | chm13v2 | a0001 | c0019 | t0026 | g0142 | REF | REF | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
homoSapiens | grch38p0 | a0001 | c0018 | t0054 | g0030 | REF | REF | CEP250_chr20_35450598_35524280 | CEP250 | chr20 | 35450598 | 35524280 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:35465756 | A | G | 1 | a0018 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.257A>G | p.Gln86Arg | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 6/35 | 708/15434 | 257/7329 | 86/2442 | chr20 | 35465756 | |||
chr20:35466048 | T | A | 1 | a0008 | 1 | HG01891.hp2 | missense_variant | MODERATE | c.336T>A | p.Ser112Arg | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/35 | 787/15434 | 336/7329 | 112/2442 | chr20 | 35466048 | |||
chr20:35467369 | G | A | 1 | a0007 | 3 | NA18957.hp1 NA18967.hp2 NA18988.hp1 |
missense_variant | MODERATE | c.665G>A | p.Arg222His | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/35 | 1116/15434 | 665/7329 | 222/2442 | chr20 | 35467369 | |||
chr20:35467383 | G | A | 2 | a0003 a0011 |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
missense_variant | MODERATE | c.679G>A | p.Ala227Thr | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/35 | 1130/15434 | 679/7329 | 227/2442 | chr20 | 35467383 | |||
chr20:35467432 | C | T | 1 | a0010 | 1 | HG02258.hp1 | missense_variant | MODERATE | c.728C>T | p.Pro243Leu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/35 | 1179/15434 | 728/7329 | 243/2442 | chr20 | 35467432 | |||
chr20:35472102 | C | T | 1 | a0020 | 1 | NA21309.hp1 | missense_variant | MODERATE | c.1001C>T | p.Ala334Val | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 11/35 | 1452/15434 | 1001/7329 | 334/2442 | chr20 | 35472102 | |||
chr20:35473471 | G | A | 1 | a0016 | 1 | NA18953.hp2 | missense_variant | MODERATE | c.1307G>A | p.Arg436Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 13/35 | 1758/15434 | 1307/7329 | 436/2442 | chr20 | 35473471 | |||
chr20:35476569 | G | T | 1 | a0004 | 6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
missense_variant | MODERATE | c.1837G>T | p.Val613Phe | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/35 | 2288/15434 | 1837/7329 | 613/2442 | chr20 | 35476569 | |||
chr20:35490719 | G | C | 1 | a0013 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.2669G>C | p.Arg890Thr | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 21/35 | 3120/15434 | 2669/7329 | 890/2442 | chr20 | 35490719 | |||
chr20:35493493 | G | A | 1 | a0003 | 8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
missense_variant | MODERATE | c.2954G>A | p.Arg985Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/35 | 3405/15434 | 2954/7329 | 985/2442 | chr20 | 35493493 | |||
chr20:35493524 | A | T | 1 | a0019 | 1 | NA19064.hp2 | missense_variant | MODERATE | c.2985A>T | p.Gln995His | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/35 | 3436/15434 | 2985/7329 | 995/2442 | chr20 | 35493524 | |||
chr20:35496623 | C | G | 1 | a0003 | 8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
missense_variant | MODERATE | c.3214C>G | p.Gln1072Glu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/35 | 3665/15434 | 3214/7329 | 1072/2442 | chr20 | 35496623 | |||
chr20:35502691 | G | A | 3 | a0002 a0008 a0017 |
46 | HG00423.hp1 HG00597.hp1 HG00642.hp1 others(43): Show |
missense_variant | MODERATE | c.4322G>A | p.Arg1441Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 4773/15434 | 4322/7329 | 1441/2442 | chr20 | 35502691 | |||
chr20:35504167 | C | T | 1 | a0014 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.5798C>T | p.Ala1933Val | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6249/15434 | 5798/7329 | 1933/2442 | chr20 | 35504167 | |||
chr20:35504517 | G | A | 1 | a0017 | 1 | NA18993.hp1 | missense_variant | MODERATE | c.6148G>A | p.Glu2050Lys | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6599/15434 | 6148/7329 | 2050/2442 | chr20 | 35504517 | |||
chr20:35504580 | G | A | 1 | a0005 | 5 | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
missense_variant | MODERATE | c.6211G>A | p.Glu2071Lys | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6662/15434 | 6211/7329 | 2071/2442 | chr20 | 35504580 | |||
chr20:35504727 | A | G | 1 | a0006 | 3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
missense_variant | MODERATE | c.6358A>G | p.Asn2120Asp | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6809/15434 | 6358/7329 | 2120/2442 | chr20 | 35504727 | |||
chr20:35504763 | T | A | 1 | a0009 | 1 | HG02165.hp1 | missense_variant | MODERATE | c.6394T>A | p.Ser2132Thr | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6845/15434 | 6394/7329 | 2132/2442 | chr20 | 35504763 | |||
chr20:35504806 | C | T | 1 | a0015 | 1 | NA18948.hp1 | missense_variant | MODERATE | c.6437C>T | p.Pro2146Leu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6888/15434 | 6437/7329 | 2146/2442 | chr20 | 35504806 | |||
chr20:35504980 | G | A | 1 | a0012 | 1 | HG02300.hp1 | missense_variant | MODERATE | c.6611G>A | p.Arg2204Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 7062/15434 | 6611/7329 | 2204/2442 | chr20 | 35504980 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:35476559 | G | A | 1 | a0002c0009 | 3 | HG02015.hp2 HG02040.hp2 NA19057.hp2 |
synonymous_variant | LOW | c.1827G>A | p.Ala609Ala | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/35 | 2278/15434 | 1827/7329 | 609/2442 | chr20 | 35476559 | |||
chr20:35477942 | C | T | 1 | a0001c0029 | 1 | HG02486.hp1 | synonymous_variant | LOW | c.1935C>T | p.Val645Val | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/35 | 2386/15434 | 1935/7329 | 645/2442 | chr20 | 35477942 | |||
chr20:35477951 | G | A | 1 | a0003c0013 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.1944G>A | p.Ala648Ala | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/35 | 2395/15434 | 1944/7329 | 648/2442 | chr20 | 35477951 | |||
chr20:35490756 | G | A | 1 | a0001c0017 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.2706G>A | p.Gln902Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 21/35 | 3157/15434 | 2706/7329 | 902/2442 | chr20 | 35490756 | |||
chr20:35496586 | C | G | 29 | a0001c0001 a0001c0003 a0001c0005 others(26): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
synonymous_variant | LOW | c.3177C>G | p.Leu1059Leu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/35 | 3628/15434 | 3177/7329 | 1059/2442 | chr20 | 35496586 | |||
chr20:35497793 | G | A | 1 | a0006c0010 | 3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
synonymous_variant | LOW | c.3381G>A | p.Glu1127Glu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/35 | 3832/15434 | 3381/7329 | 1127/2442 | chr20 | 35497793 | |||
chr20:35497814 | G | A | 1 | a0001c0017 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.3402G>A | p.Thr1134Thr | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/35 | 3853/15434 | 3402/7329 | 1134/2442 | chr20 | 35497814 | |||
chr20:35498677 | C | T | 3 | a0003c0004 a0003c0013 a0011c0014 |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
synonymous_variant | LOW | c.3738C>T | p.His1246His | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/35 | 4189/15434 | 3738/7329 | 1246/2442 | chr20 | 35498677 | |||
chr20:35498716 | G | T | 1 | a0011c0014 | 1 | HG02280.hp1 | splice_region_variant&synonymous_variant | LOW | c.3777G>T | p.Arg1259Arg | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/35 | 4228/15434 | 3777/7329 | 1259/2442 | chr20 | 35498716 | |||
chr20:35501891 | G | T | 2 | a0001c0003 a0012c0027 |
27 | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(24): Show |
synonymous_variant | LOW | c.3945G>T | p.Leu1315Leu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 29/35 | 4396/15434 | 3945/7329 | 1315/2442 | chr20 | 35501891 | |||
chr20:35502513 | A | C | 1 | a0020c0030 | 1 | NA21309.hp1 | synonymous_variant | LOW | c.4144A>C | p.Arg1382Arg | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 4595/15434 | 4144/7329 | 1382/2442 | chr20 | 35502513 | |||
chr20:35502854 | C | T | 1 | a0001c0026 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.4485C>T | p.Ala1495Ala | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 4936/15434 | 4485/7329 | 1495/2442 | chr20 | 35502854 | |||
chr20:35503151 | G | A | 2 | a0001c0021 a0020c0030 |
2 | HG00140.hp2 NA21309.hp1 |
synonymous_variant | LOW | c.4782G>A | p.Thr1594Thr | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 5233/15434 | 4782/7329 | 1594/2442 | chr20 | 35503151 | |||
chr20:35503847 | G | A | 4 | a0001c0005 a0001c0011 a0005c0007 others(1): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
synonymous_variant | LOW | c.5478G>A | p.Gln1826Gln | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 5929/15434 | 5478/7329 | 1826/2442 | chr20 | 35503847 | |||
chr20:35504519 | G | A | 1 | a0001c0022 | 1 | HG03098.hp1 | synonymous_variant | LOW | c.6150G>A | p.Glu2050Glu | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/35 | 6601/15434 | 6150/7329 | 2050/2442 | chr20 | 35504519 | |||
chr20:35508987 | G | A | 3 | a0001c0011 a0005c0007 a0013c0016 |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
synonymous_variant | LOW | c.6951G>A | p.Ala2317Ala | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/35 | 7402/15434 | 6951/7329 | 2317/2442 | chr20 | 35508987 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:35511751 | G | A | 1 | a0008c0012t0024 | 1 | HG01891.hp2 | 3_prime_UTR_variant | MODIFIER | c.*125G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 125 | chr20 | 35511751 | ||||||
chr20:35511858 | G | C | 1 | a0003c0004t0025 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*232G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 232 | chr20 | 35511858 | ||||||
chr20:35511954 | AC | A | 4 | a0001c0001t0013 a0001c0001t0065 a0001c0001t0066 others(1): Show |
6 | HG02083.hp1 NA18943.hp2 NA18949.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*331delC | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 331 | INFO_REALIGN_3_PRIME | chr20 | 35511954 | |||||
chr20:35511960 | G | A | 22 | a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(19): Show |
103 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(100): Show |
3_prime_UTR_variant | MODIFIER | c.*334G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 334 | chr20 | 35511960 | ||||||
chr20:35512184 | C | G | 2 | a0001c0005t0010 a0001c0005t0064 |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*558C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 558 | chr20 | 35512184 | ||||||
chr20:35512224 | A | G | 1 | a0001c0017t0063 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*598A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 598 | chr20 | 35512224 | ||||||
chr20:35512251 | G | A | 1 | a0001c0029t0038 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*625G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 625 | chr20 | 35512251 | ||||||
chr20:35512278 | A | G | 8 | a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 others(5): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*652A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 652 | chr20 | 35512278 | ||||||
chr20:35512836 | C | T | 2 | a0001c0001t0066 a0001c0001t0067 |
2 | HG02083.hp1 NA18943.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1210C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1210 | chr20 | 35512836 | ||||||
chr20:35513193 | T | C | 8 | a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 others(5): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1567T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1567 | chr20 | 35513193 | ||||||
chr20:35513218 | A | C | 2 | a0001c0001t0036 a0001c0001t0037 |
2 | NA18961.hp1 NA19089.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1592A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1592 | chr20 | 35513218 | ||||||
chr20:35513258 | C | CT | 9 | a0001c0003t0060 a0001c0011t0023 a0001c0011t0062 others(6): Show |
12 | HG00423.hp2 HG02451.hp2 HG02486.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*1645dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1646 | INFO_REALIGN_3_PRIME | chr20 | 35513258 | |||||
chr20:35513258 | C | CTT | 2 | a0001c0005t0010 a0001c0005t0064 |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1644_*1645dupTT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1646 | INFO_REALIGN_3_PRIME | chr20 | 35513258 | |||||
chr20:35513258 | C | T | 1 | a0001c0029t0038 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1632C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1632 | chr20 | 35513258 | ||||||
chr20:35513324 | G | A | 20 | a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(17): Show |
68 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(65): Show |
3_prime_UTR_variant | MODIFIER | c.*1698G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1698 | chr20 | 35513324 | ||||||
chr20:35513375 | C | T | 1 | a0012c0027t0058 | 1 | HG02300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1749C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1749 | chr20 | 35513375 | ||||||
chr20:35513395 | A | G | 2 | a0001c0001t0017 a0001c0001t0043 |
3 | HG01192.hp2 HG01515.hp1 HG01517.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1769A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1769 | chr20 | 35513395 | ||||||
chr20:35513420 | G | A | 2 | a0001c0005t0010 a0001c0005t0064 |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1794G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1794 | chr20 | 35513420 | ||||||
chr20:35513458 | A | G | 1 | a0001c0001t0067 | 1 | NA18943.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1832A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1832 | chr20 | 35513458 | ||||||
chr20:35513464 | A | G | 8 | a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 others(5): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1838A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1838 | chr20 | 35513464 | ||||||
chr20:35513485 | C | T | 1 | a0001c0003t0007 | 7 | HG01175.hp1 HG02602.hp1 HG03490.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1859C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1859 | chr20 | 35513485 | ||||||
chr20:35513486 | G | A | 3 | a0005c0007t0021 a0005c0007t0022 a0005c0007t0061 |
5 | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1860G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1860 | chr20 | 35513486 | ||||||
chr20:35513522 | T | C | 1 | a0009c0023t0027 | 1 | HG02165.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1896T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 1896 | chr20 | 35513522 | ||||||
chr20:35513648 | C | A | 2 | a0001c0001t0017 a0001c0001t0043 |
3 | HG01192.hp2 HG01515.hp1 HG01517.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2022C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2022 | chr20 | 35513648 | ||||||
chr20:35513802 | C | A | 38 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(35): Show |
123 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*2176C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2176 | chr20 | 35513802 | ||||||
chr20:35513878 | T | C | 1 | a0001c0011t0062 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2252T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2252 | chr20 | 35513878 | ||||||
chr20:35513893 | G | C | 2 | a0001c0011t0023 a0013c0016t0023 |
2 | HG02451.hp2 HG02572.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2267G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2267 | chr20 | 35513893 | ||||||
chr20:35513992 | A | G | 46 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(43): Show |
137 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(134): Show |
3_prime_UTR_variant | MODIFIER | c.*2366A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2366 | chr20 | 35513992 | ||||||
chr20:35514057 | C | A | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2431C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2431 | chr20 | 35514057 | ||||||
chr20:35514060 | T | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2434T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2434 | chr20 | 35514060 | ||||||
chr20:35514061 | A | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2435A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2435 | chr20 | 35514061 | ||||||
chr20:35514062 | A | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2436A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2436 | chr20 | 35514062 | ||||||
chr20:35514063 | T | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2437T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2437 | chr20 | 35514063 | ||||||
chr20:35514068 | A | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2442A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2442 | chr20 | 35514068 | ||||||
chr20:35514069 | C | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2443C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2443 | chr20 | 35514069 | ||||||
chr20:35514071 | A | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2445A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2445 | chr20 | 35514071 | ||||||
chr20:35514072 | C | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2446C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2446 | chr20 | 35514072 | ||||||
chr20:35514073 | T | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2447T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2447 | chr20 | 35514073 | ||||||
chr20:35514076 | T | A | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2450T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2450 | chr20 | 35514076 | ||||||
chr20:35514077 | G | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2451G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2451 | chr20 | 35514077 | ||||||
chr20:35514078 | T | A | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2452T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2452 | chr20 | 35514078 | ||||||
chr20:35514079 | T | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2453T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2453 | chr20 | 35514079 | ||||||
chr20:35514080 | T | A | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2454T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2454 | chr20 | 35514080 | ||||||
chr20:35514081 | T | G | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2455T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2455 | chr20 | 35514081 | ||||||
chr20:35514090 | C | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2464C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2464 | chr20 | 35514090 | ||||||
chr20:35514092 | A | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2466A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2466 | chr20 | 35514092 | ||||||
chr20:35514093 | G | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2467G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2467 | chr20 | 35514093 | ||||||
chr20:35514096 | C | A | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2470C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2470 | chr20 | 35514096 | ||||||
chr20:35514098 | A | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2472A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2472 | chr20 | 35514098 | ||||||
chr20:35514099 | A | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2473A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2473 | chr20 | 35514099 | ||||||
chr20:35514100 | A | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2474A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2474 | chr20 | 35514100 | ||||||
chr20:35514117 | A | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2491A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2491 | chr20 | 35514117 | ||||||
chr20:35514120 | T | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2494T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2494 | chr20 | 35514120 | ||||||
chr20:35514121 | G | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2495G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2495 | chr20 | 35514121 | ||||||
chr20:35514127 | G | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2501G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2501 | chr20 | 35514127 | ||||||
chr20:35514128 | A | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2502A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2502 | chr20 | 35514128 | ||||||
chr20:35514129 | A | C | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2503A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2503 | chr20 | 35514129 | ||||||
chr20:35514130 | G | T | 1 | a0001c0001t0028 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2504G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2504 | chr20 | 35514130 | ||||||
chr20:35514180 | C | T | 1 | a0001c0029t0038 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2554C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2554 | chr20 | 35514180 | ||||||
chr20:35514268 | G | T | 1 | a0020c0030t0057 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2642G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2642 | chr20 | 35514268 | ||||||
chr20:35514360 | T | C | 38 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(35): Show |
123 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*2734T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2734 | chr20 | 35514360 | ||||||
chr20:35514621 | C | G | 1 | a0001c0001t0053 | 1 | HG01168.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2995C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 2995 | chr20 | 35514621 | ||||||
chr20:35514735 | A | G | 1 | a0001c0001t0035 | 1 | HG00597.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3109A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3109 | chr20 | 35514735 | ||||||
chr20:35514748 | A | G | 2 | a0001c0001t0012 a0001c0001t0034 |
5 | HG01071.hp2 HG01081.hp2 HG01106.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3122A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3122 | chr20 | 35514748 | ||||||
chr20:35514767 | G | A | 1 | a0001c0001t0029 | 1 | HG01981.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3141G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3141 | chr20 | 35514767 | ||||||
chr20:35514796 | C | T | 1 | a0001c0022t0056 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3170C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3170 | chr20 | 35514796 | ||||||
chr20:35514840 | G | A | 3 | a0001c0001t0005 a0001c0001t0014 a0015c0024t0005 |
11 | HG00673.hp2 HG02257.hp1 HG03017.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3214G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3214 | chr20 | 35514840 | ||||||
chr20:35514955 | T | G | 1 | a0014c0025t0030 | 1 | HG03688.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3329T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3329 | chr20 | 35514955 | ||||||
chr20:35515205 | A | T | 1 | a0001c0003t0052 | 1 | NA18945.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3579A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3579 | chr20 | 35515205 | ||||||
chr20:35515303 | C | T | 1 | a0006c0010t0020 | 2 | HG02486.hp2 HG02559.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3677C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3677 | chr20 | 35515303 | ||||||
chr20:35515304 | C | T | 15 | a0001c0001t0003 a0001c0001t0045 a0001c0001t0047 others(12): Show |
48 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(45): Show |
3_prime_UTR_variant | MODIFIER | c.*3678C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3678 | chr20 | 35515304 | ||||||
chr20:35515341 | T | C | 1 | a0001c0001t0014 | 2 | NA18943.hp1 NA18952.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3715T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 3715 | chr20 | 35515341 | ||||||
chr20:35515701 | G | A | 1 | a0004c0006t0044 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4075G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4075 | chr20 | 35515701 | ||||||
chr20:35516175 | T | A | 1 | a0001c0001t0045 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4549T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4549 | chr20 | 35516175 | ||||||
chr20:35516194 | T | C | 1 | a0001c0001t0039 | 1 | HG02970.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4568T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4568 | chr20 | 35516194 | ||||||
chr20:35516476 | A | G | 2 | a0004c0006t0009 a0004c0006t0044 |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*4850A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4850 | chr20 | 35516476 | ||||||
chr20:35516556 | C | G | 1 | a0002c0002t0042 | 1 | NA18955.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4930C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4930 | chr20 | 35516556 | ||||||
chr20:35516569 | A | T | 1 | a0001c0001t0033 | 1 | NA18978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4943A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 4943 | chr20 | 35516569 | ||||||
chr20:35516629 | A | G | 1 | a0001c0001t0051 | 1 | HG02145.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5003A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5003 | chr20 | 35516629 | ||||||
chr20:35516756 | G | A | 3 | a0003c0004t0006 a0003c0004t0025 a0003c0013t0006 |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*5130G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5130 | chr20 | 35516756 | ||||||
chr20:35516810 | T | G | 1 | a0001c0029t0038 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5184T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5184 | chr20 | 35516810 | ||||||
chr20:35516910 | C | T | 1 | a0001c0001t0041 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5284C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5284 | chr20 | 35516910 | ||||||
chr20:35516911 | G | A | 8 | a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 others(5): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*5285G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5285 | chr20 | 35516911 | ||||||
chr20:35517249 | G | A | 1 | a0020c0030t0057 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5623G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5623 | chr20 | 35517249 | ||||||
chr20:35517402 | G | A | 1 | a0001c0001t0065 | 1 | NA18952.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5776G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5776 | chr20 | 35517402 | ||||||
chr20:35517549 | C | G | 8 | a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 others(5): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*5923C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 5923 | chr20 | 35517549 | ||||||
chr20:35517752 | C | CA | 37 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(34): Show |
119 | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(116): Show |
3_prime_UTR_variant | MODIFIER | c.*6142dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6143 | INFO_REALIGN_3_PRIME | chr20 | 35517752 | |||||
chr20:35517768 | A | AT | 4 | a0003c0004t0006 a0003c0004t0025 a0003c0013t0006 others(1): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*6144dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6145 | INFO_REALIGN_3_PRIME | chr20 | 35517768 | |||||
chr20:35517805 | C | T | 38 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(35): Show |
123 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(120): Show |
3_prime_UTR_variant | MODIFIER | c.*6179C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6179 | chr20 | 35517805 | ||||||
chr20:35517831 | G | C | 1 | a0002c0002t0040 | 1 | NA19089.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6205G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6205 | chr20 | 35517831 | ||||||
chr20:35517854 | G | A | 1 | a0001c0003t0046 | 1 | HG03927.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6228G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6228 | chr20 | 35517854 | ||||||
chr20:35518040 | T | C | 1 | a0020c0030t0057 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6414T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6414 | chr20 | 35518040 | ||||||
chr20:35518045 | C | CA | 7 | a0001c0001t0031 a0001c0001t0053 a0001c0011t0023 others(4): Show |
9 | HG01168.hp2 HG02451.hp2 HG02559.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*6434dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6435 | INFO_REALIGN_3_PRIME | chr20 | 35518045 | |||||
chr20:35518045 | C | CAA | 5 | a0001c0001t0014 a0001c0005t0010 a0001c0005t0064 others(2): Show |
11 | HG01109.hp2 HG01261.hp1 HG02630.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*6433_*6434dupAA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6435 | INFO_REALIGN_3_PRIME | chr20 | 35518045 | |||||
chr20:35518045 | CA | C | 8 | a0001c0001t0017 a0001c0003t0004 a0001c0003t0007 others(5): Show |
28 | HG00423.hp2 HG01070.hp2 HG01175.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*6434delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6434 | INFO_REALIGN_3_PRIME | chr20 | 35518045 | |||||
chr20:35518131 | G | GT | 7 | a0003c0004t0006 a0003c0004t0025 a0003c0013t0006 others(4): Show |
16 | HG01884.hp1 HG01891.hp1 HG02109.hp1 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*6509dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6510 | INFO_REALIGN_3_PRIME | chr20 | 35518131 | |||||
chr20:35518134 | TTG | T | 9 | a0001c0001t0034 a0001c0005t0010 a0001c0005t0064 others(6): Show |
15 | HG01081.hp2 HG01109.hp2 HG01261.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*6510_*6511delGT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6510 | INFO_REALIGN_3_PRIME | chr20 | 35518134 | |||||
chr20:35518135 | TG | T | 22 | a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(19): Show |
97 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(94): Show |
3_prime_UTR_variant | MODIFIER | c.*6510delG | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6510 | chr20 | 35518135 | ||||||
chr20:35518136 | G | T | 30 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(27): Show |
80 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*6510G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6510 | chr20 | 35518136 | ||||||
chr20:35518147 | A | G | 28 | a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(25): Show |
110 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(107): Show |
3_prime_UTR_variant | MODIFIER | c.*6521A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6521 | chr20 | 35518147 | ||||||
chr20:35518209 | A | G | 3 | a0005c0007t0021 a0005c0007t0022 a0005c0007t0061 |
5 | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*6583A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6583 | chr20 | 35518209 | ||||||
chr20:35518467 | C | T | 1 | a0001c0001t0048 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6841C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6841 | chr20 | 35518467 | ||||||
chr20:35518478 | A | G | 1 | a0001c0005t0064 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6852A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6852 | chr20 | 35518478 | ||||||
chr20:35518487 | G | A | 1 | a0001c0003t0049 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6861G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6861 | chr20 | 35518487 | ||||||
chr20:35518584 | G | T | 1 | a0001c0011t0062 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6958G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 6958 | chr20 | 35518584 | ||||||
chr20:35518654 | C | T | 1 | a0005c0007t0061 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7028C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 7028 | chr20 | 35518654 | ||||||
chr20:35518666 | C | T | 6 | a0001c0011t0023 a0001c0011t0062 a0005c0007t0021 others(3): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*7040C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 7040 | chr20 | 35518666 | ||||||
chr20:35518876 | C | CA | 2 | a0004c0006t0009 a0004c0006t0044 |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*7256dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 7257 | INFO_REALIGN_3_PRIME | chr20 | 35518876 | |||||
chr20:35518998 | A | T | 1 | a0001c0001t0032 | 1 | NA19067.hp1 | 3_prime_UTR_variant | MODIFIER | c.*7372A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 7372 | chr20 | 35518998 | ||||||
chr20:35519032 | C | CA | 7 | a0001c0001t0011 a0001c0001t0033 a0001c0001t0036 others(4): Show |
14 | HG01109.hp2 HG01261.hp1 HG02698.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*7420dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 35/35 | 7421 | INFO_REALIGN_3_PRIME | chr20 | 35519032 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr20:35455777 | C | T | 2 | a0001c0001t0003g0231 a0001c0001t0003g0232 |
2 | HG03225.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.-298+26C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35455777 | |||||||
chr20:35455893 | C | T | 1 | a0001c0003t0049g0230 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-298+142C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35455893 | |||||||
chr20:35456044 | C | A | 6 | a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 others(3): Show |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-298+293C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456044 | |||||||
chr20:35456079 | G | T | 1 | a0001c0001t0037g0229 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.-298+328G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456079 | |||||||
chr20:35456125 | C | T | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
110 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(107): Show |
intron_variant | MODIFIER | c.-298+374C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456125 | |||||||
chr20:35456419 | C | T | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.-298+668C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456419 | |||||||
chr20:35456468 | G | T | 2 | a0001c0001t0013g0228 a0001c0001t0028g0227 |
2 | NA18949.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.-298+717G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456468 | |||||||
chr20:35456615 | A | G | 1 | a0002c0002t0002g0135 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-298+864A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456615 | |||||||
chr20:35456696 | G | A | 1 | a0001c0021t0002g0024 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-298+945G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456696 | |||||||
chr20:35456786 | C | CA | 3 | a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 |
4 | NA18961.hp2 NA18992.hp2 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.-298+1035_-298+103 others(5): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456786 | |||||||
chr20:35456786 | C | CT | 120 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0100 others(117): Show |
125 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.-298+1051dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr20 | 35456786 | ||||||
chr20:35456786 | C | CTT | 7 | a0001c0011t0062g0133 a0002c0002t0015g0134 a0005c0007t0021g0014 others(4): Show |
7 | HG02559.hp1 HG02630.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.-298+1050_-298+105 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr20 | 35456786 | ||||||
chr20:35456884 | C | T | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.-298+1133C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456884 | |||||||
chr20:35456904 | C | G | 28 | a0001c0001t0017g0127 a0001c0001t0017g0128 a0001c0003t0003g0108 others(25): Show |
29 | HG00423.hp2 HG01175.hp1 HG01515.hp1 others(26): Show |
intron_variant | MODIFIER | c.-298+1153C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456904 | |||||||
chr20:35456958 | T | A | 1 | a0001c0001t0005g0041 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-298+1207T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35456958 | |||||||
chr20:35457098 | A | G | 1 | a0002c0002t0002g0105 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-297-1206A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457098 | |||||||
chr20:35457243 | C | T | 1 | a0001c0001t0037g0229 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.-297-1061C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457243 | |||||||
chr20:35457323 | G | T | 1 | a0001c0001t0005g0104 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.-297-981G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457323 | |||||||
chr20:35457370 | G | A | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-297-934G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457370 | |||||||
chr20:35457405 | C | G | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-297-899C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457405 | |||||||
chr20:35457571 | C | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
110 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(107): Show |
intron_variant | MODIFIER | c.-297-733C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457571 | |||||||
chr20:35457692 | A | G | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-297-612A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457692 | |||||||
chr20:35457745 | G | C | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-297-559G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457745 | |||||||
chr20:35457769 | A | C | 6 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(3): Show |
6 | HG00140.hp2 HG00738.hp1 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.-297-535A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457769 | |||||||
chr20:35457770 | G | C | 6 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(3): Show |
6 | HG00140.hp2 HG00738.hp1 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.-297-534G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457770 | |||||||
chr20:35457790 | T | A | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-297-514T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35457790 | |||||||
chr20:35458173 | C | G | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-297-131C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 1/34 | chr20 | 35458173 | |||||||
chr20:35458456 | A | G | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-227+82A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35458456 | |||||||
chr20:35458514 | T | C | 5 | a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 others(2): Show |
5 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.-227+140T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35458514 | |||||||
chr20:35458678 | G | A | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-227+304G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35458678 | |||||||
chr20:35458687 | A | G | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-227+313A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35458687 | |||||||
chr20:35458964 | ATCTTT | A | 7 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(4): Show |
7 | HG02109.hp1 HG02615.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.-227+592_-227+596d others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458964 | ||||||
chr20:35458966 | C | CT | 16 | a0001c0001t0039g0056 a0001c0003t0004g0006 a0001c0003t0004g0118 others(13): Show |
16 | HG02451.hp1 HG02451.hp2 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.-227+620dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | C | CTT | 63 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0003g0044 others(60): Show |
65 | HG00140.hp2 HG00423.hp1 HG00673.hp2 others(62): Show |
intron_variant | MODIFIER | c.-227+619_-227+620d others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | C | CTTT | 40 | a0001c0001t0002g0103 a0001c0001t0003g0027 a0001c0001t0003g0084 others(37): Show |
41 | HG00099.hp2 HG00423.hp2 HG00597.hp1 others(38): Show |
intron_variant | MODIFIER | c.-227+618_-227+620d others(5): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | C | CTTTT | 8 | a0001c0001t0003g0013 a0001c0001t0003g0086 a0001c0001t0003g0088 others(5): Show |
9 | HG00642.hp2 HG00741.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.-227+617_-227+620d others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | CT | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0151 a0006c0010t0020g0038 others(3): Show |
6 | HG02486.hp2 HG02559.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.-227+620delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | CTT | C | 16 | a0001c0001t0001g0161 a0001c0001t0001g0198 a0001c0001t0001g0199 others(13): Show |
16 | HG01934.hp1 HG01981.hp1 HG01981.hp2 others(13): Show |
intron_variant | MODIFIER | c.-227+619_-227+620d others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35458966 | CTTT | C | 75 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(72): Show |
88 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.-227+618_-227+620d others(5): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35458966 | ||||||
chr20:35459039 | C | G | 19 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0084 others(16): Show |
20 | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(17): Show |
intron_variant | MODIFIER | c.-227+665C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35459039 | |||||||
chr20:35459094 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-227+720G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35459094 | |||||||
chr20:35459146 | T | A | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.-227+772T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35459146 | |||||||
chr20:35459235 | G | GT | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-226-747dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35459235 | ||||||
chr20:35459626 | GA | G | 54 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0044 others(51): Show |
56 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-226-344delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35459626 | ||||||
chr20:35459626 | GAA | G | 62 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(59): Show |
66 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.-226-345_-226-344d others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr20 | 35459626 | ||||||
chr20:35459645 | G | A | 1 | a0001c0003t0050g0106 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-226-338G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35459645 | |||||||
chr20:35459769 | C | T | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-226-214C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 2/34 | chr20 | 35459769 | |||||||
chr20:35460341 | C | T | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-104+236C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35460341 | |||||||
chr20:35460754 | C | T | 1 | a0001c0001t0012g0220 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-104+649C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35460754 | |||||||
chr20:35460805 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-104+700T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35460805 | |||||||
chr20:35460841 | C | T | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.-104+736C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35460841 | |||||||
chr20:35460908 | T | C | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-104+803T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35460908 | |||||||
chr20:35461053 | G | A | 1 | a0001c0001t0041g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-104+948G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461053 | |||||||
chr20:35461152 | C | T | 2 | a0001c0005t0010g0140 a0001c0005t0010g0141 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-104+1047C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461152 | |||||||
chr20:35461163 | C | T | 1 | a0001c0001t0001g0219 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-104+1058C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461163 | |||||||
chr20:35461180 | A | G | 6 | a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 others(3): Show |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-104+1075A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461180 | |||||||
chr20:35461354 | A | C | 62 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(59): Show |
66 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.-103-911A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461354 | |||||||
chr20:35461395 | C | CTCT | 132 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(129): Show |
138 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.-103-868_-103-866d others(5): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr20 | 35461395 | ||||||
chr20:35461474 | G | C | 1 | a0002c0002t0002g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-103-791G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461474 | |||||||
chr20:35461703 | G | A | 6 | a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(3): Show |
6 | HG00597.hp1 HG01261.hp2 NA18969.hp2 others(3): Show |
intron_variant | MODIFIER | c.-103-562G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35461703 | |||||||
chr20:35461882 | G | GGTTAA | 235 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.-103-380_-103-379i others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr20 | 35461882 | ||||||
chr20:35462123 | G | A | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.-103-142G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 3/34 | chr20 | 35462123 | |||||||
chr20:35462673 | G | C | 1 | a0001c0001t0001g0146 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.186+120G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4/34 | chr20 | 35462673 | |||||||
chr20:35462694 | C | T | 1 | a0003c0013t0006g0029 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.186+141C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4/34 | chr20 | 35462694 | |||||||
chr20:35463267 | G | A | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.187-308G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4/34 | chr20 | 35463267 | |||||||
chr20:35463296 | G | A | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.187-279G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4/34 | chr20 | 35463296 | |||||||
chr20:35463340 | T | G | 2 | a0006c0010t0020g0038 a0006c0010t0020g0039 |
2 | HG02486.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.187-235T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4/34 | chr20 | 35463340 | |||||||
chr20:35463759 | C | T | 1 | a0001c0001t0037g0229 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.243+128C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35463759 | |||||||
chr20:35463820 | C | T | 1 | a0001c0003t0007g0129 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.243+189C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35463820 | |||||||
chr20:35463957 | G | C | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.243+326G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35463957 | |||||||
chr20:35463979 | A | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.243+348A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35463979 | |||||||
chr20:35464082 | A | T | 1 | a0001c0001t0001g0218 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.243+451A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464082 | |||||||
chr20:35464326 | A | G | 2 | a0006c0010t0020g0038 a0006c0010t0020g0039 |
2 | HG02486.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.243+695A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464326 | |||||||
chr20:35464411 | C | T | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.243+780C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464411 | |||||||
chr20:35464448 | A | G | 95 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(92): Show |
109 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(106): Show |
intron_variant | MODIFIER | c.243+817A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464448 | |||||||
chr20:35464673 | A | G | 2 | a0002c0002t0002g0082 a0002c0002t0002g0083 |
2 | HG02451.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.243+1042A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464673 | |||||||
chr20:35464752 | CT | C | 48 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0044 others(45): Show |
50 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.244-990delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464752 | |||||||
chr20:35464779 | G | A | 93 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
107 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.244-964G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464779 | |||||||
chr20:35464843 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.244-900A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464843 | |||||||
chr20:35464851 | G | C | 93 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
107 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.244-892G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464851 | |||||||
chr20:35464936 | A | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.244-807A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35464936 | |||||||
chr20:35465001 | T | G | 1 | a0001c0001t0003g0084 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.244-742T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465001 | |||||||
chr20:35465023 | G | A | 1 | a0002c0002t0002g0047 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.244-720G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465023 | |||||||
chr20:35465200 | A | T | 1 | a0001c0001t0005g0104 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.244-543A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465200 | |||||||
chr20:35465210 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.244-533A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465210 | |||||||
chr20:35465407 | G | A | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.244-336G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465407 | |||||||
chr20:35465420 | C | CA | 19 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(16): Show |
19 | HG01167.hp1 HG01192.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.244-303dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr20 | 35465420 | ||||||
chr20:35465436 | AAAAATG | A | 13 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(10): Show |
13 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.244-303_244-298del others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr20 | 35465436 | ||||||
chr20:35465445 | A | T | 2 | a0006c0010t0020g0038 a0006c0010t0020g0039 |
2 | HG02486.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.244-298A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465445 | |||||||
chr20:35465530 | A | G | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.244-213A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465530 | |||||||
chr20:35465536 | C | T | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.244-207C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465536 | |||||||
chr20:35465736 | G | A | 1 | a0002c0002t0002g0055 | 1 | HG01516.hp1 | splice_region_variant&intron_variant | LOW | c.244-7G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 5/34 | chr20 | 35465736 | |||||||
chr20:35465859 | T | A | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.326+34T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 6/34 | chr20 | 35465859 | |||||||
chr20:35466329 | C | G | 1 | a0001c0001t0013g0216 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.492+125C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466329 | |||||||
chr20:35466584 | C | T | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.492+380C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466584 | |||||||
chr20:35466724 | T | C | 2 | a0001c0011t0023g0042 a0013c0016t0023g0043 |
2 | HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.493-242T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466724 | |||||||
chr20:35466784 | C | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
110 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(107): Show |
intron_variant | MODIFIER | c.493-182C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466784 | |||||||
chr20:35466904 | T | C | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.493-62T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466904 | |||||||
chr20:35466914 | G | A | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.493-52G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466914 | |||||||
chr20:35466929 | C | A | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.493-37C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 7/34 | chr20 | 35466929 | |||||||
chr20:35467229 | G | A | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.600-75G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 8/34 | chr20 | 35467229 | |||||||
chr20:35467628 | AG | A | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.851+78delG | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467628 | ||||||
chr20:35467662 | G | T | 4 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show |
4 | NA18945.hp2 NA18946.hp1 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.851+107G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467662 | |||||||
chr20:35467711 | T | C | 1 | a0002c0002t0042g0057 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.851+156T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467711 | |||||||
chr20:35467792 | T | G | 1 | a0001c0003t0004g0107 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.851+237T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467792 | |||||||
chr20:35467881 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.851+326T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467881 | |||||||
chr20:35467882 | G | A | 1 | a0013c0016t0023g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.851+327G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467882 | |||||||
chr20:35467943 | C | CT | 15 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0175 others(12): Show |
15 | HG01168.hp1 HG01175.hp2 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.851+408dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467943 | ||||||
chr20:35467943 | C | CTT | 6 | a0001c0001t0002g0103 a0001c0001t0047g0094 a0001c0017t0063g0072 others(3): Show |
6 | HG01070.hp2 HG02965.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.851+407_851+408dup others(2): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467943 | ||||||
chr20:35467943 | C | CTTT | 97 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0003g0013 others(94): Show |
100 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.851+406_851+408dup others(3): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467943 | ||||||
chr20:35467943 | C | CTTTT | 13 | a0001c0001t0003g0013 a0001c0001t0003g0097 a0001c0003t0004g0006 others(10): Show |
13 | HG00642.hp2 HG01516.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.851+405_851+408dup others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467943 | ||||||
chr20:35467943 | C | T | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.851+388C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35467943 | |||||||
chr20:35467943 | CT | C | 5 | a0001c0001t0001g0017 a0006c0010t0020g0038 a0006c0010t0020g0039 others(2): Show |
5 | HG01517.hp2 HG02486.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.851+408delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr20 | 35467943 | ||||||
chr20:35468084 | G | A | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.851+529G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35468084 | |||||||
chr20:35468090 | A | C | 1 | a0004c0006t0009g0023 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.851+535A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35468090 | |||||||
chr20:35468125 | T | A | 1 | a0001c0001t0041g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.851+570T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35468125 | |||||||
chr20:35468315 | A | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.851+760A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35468315 | |||||||
chr20:35468345 | C | T | 3 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 |
3 | HG01934.hp1 HG01952.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.851+790C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35468345 | |||||||
chr20:35469127 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.852-763T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35469127 | |||||||
chr20:35469862 | G | A | 1 | a0001c0001t0003g0044 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.852-28G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 9/34 | chr20 | 35469862 | |||||||
chr20:35470071 | G | C | 2 | a0001c0001t0018g0144 a0001c0001t0018g0145 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.948+85G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470071 | |||||||
chr20:35470174 | A | C | 1 | a0001c0001t0003g0084 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.948+188A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470174 | |||||||
chr20:35470224 | A | G | 2 | a0001c0001t0001g0209 a0001c0001t0001g0225 |
2 | HG01106.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.948+238A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470224 | |||||||
chr20:35470271 | A | G | 1 | a0002c0002t0002g0081 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.948+285A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470271 | |||||||
chr20:35470357 | A | G | 2 | a0001c0001t0001g0209 a0001c0001t0001g0225 |
2 | HG01106.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.948+371A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470357 | |||||||
chr20:35470443 | C | T | 1 | a0001c0001t0011g0150 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.948+457C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470443 | |||||||
chr20:35470498 | C | T | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.948+512C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470498 | |||||||
chr20:35470515 | T | C | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.948+529T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470515 | |||||||
chr20:35470609 | C | T | 4 | a0001c0005t0010g0138 a0001c0005t0010g0139 a0001c0005t0010g0140 others(1): Show |
4 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.948+623C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470609 | |||||||
chr20:35470705 | G | A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.948+719G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470705 | |||||||
chr20:35470758 | A | C | 1 | a0002c0002t0008g0080 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.948+772A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470758 | |||||||
chr20:35470862 | A | C | 235 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.948+876A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470862 | |||||||
chr20:35470998 | A | G | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.948+1012A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35470998 | |||||||
chr20:35471048 | T | C | 235 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.949-1002T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471048 | |||||||
chr20:35471099 | C | T | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.949-951C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471099 | |||||||
chr20:35471149 | G | A | 1 | a0003c0004t0006g0031 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.949-901G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471149 | |||||||
chr20:35471512 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.949-538T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471512 | |||||||
chr20:35471636 | ACAGCACC others(11): Show |
A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-413_949-396del others(18): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471636 | |||||||
chr20:35471661 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-389T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471661 | |||||||
chr20:35471663 | G | A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-387G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471663 | |||||||
chr20:35471664 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-386T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471664 | |||||||
chr20:35471672 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-378T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471672 | |||||||
chr20:35471676 | G | A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-374G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471676 | |||||||
chr20:35471687 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-363T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471687 | |||||||
chr20:35471689 | GTTCCAGA others(4): Show |
G | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-360_949-350del others(11): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471689 | |||||||
chr20:35471703 | A | G | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-347A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471703 | |||||||
chr20:35471707 | A | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-343A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471707 | |||||||
chr20:35471710 | A | G | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-340A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471710 | |||||||
chr20:35471711 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-339A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471711 | |||||||
chr20:35471711 | A | G | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.949-339A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471711 | |||||||
chr20:35471716 | C | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-334C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471716 | |||||||
chr20:35471725 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-325T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471725 | |||||||
chr20:35471728 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-322A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471728 | |||||||
chr20:35471730 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-320T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471730 | |||||||
chr20:35471737 | T | A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-313T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471737 | |||||||
chr20:35471740 | A | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-310A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471740 | |||||||
chr20:35471748 | A | AATGCCAA others(34): Show |
1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-302_949-301ins others(41): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471748 | |||||||
chr20:35471749 | G | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-301G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471749 | |||||||
chr20:35471752 | G | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-298G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471752 | |||||||
chr20:35471757 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-293A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471757 | |||||||
chr20:35471758 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-292A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471758 | |||||||
chr20:35471761 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-289A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471761 | |||||||
chr20:35471764 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-286T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471764 | |||||||
chr20:35471767 | A | G | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-283A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471767 | |||||||
chr20:35471770 | T | A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-280T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471770 | |||||||
chr20:35471772 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-278A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471772 | |||||||
chr20:35471773 | A | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-277A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471773 | |||||||
chr20:35471775 | G | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-275G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471775 | |||||||
chr20:35471776 | A | T | 1 | a0001c0001t0013g0228 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.949-274A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471776 | |||||||
chr20:35471781 | G | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-269G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471781 | |||||||
chr20:35471784 | G | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-266G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471784 | |||||||
chr20:35471786 | A | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-264A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471786 | |||||||
chr20:35471789 | T | C | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-261T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471789 | |||||||
chr20:35471790 | G | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-260G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471790 | |||||||
chr20:35471799 | T | A | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-251T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471799 | |||||||
chr20:35471800 | A | T | 1 | a0001c0001t0031g0208 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.949-250A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471800 | |||||||
chr20:35471850 | G | A | 93 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
107 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.949-200G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 10/34 | chr20 | 35471850 | |||||||
chr20:35472275 | T | A | 1 | a0001c0005t0064g0136 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1050+124T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 11/34 | chr20 | 35472275 | |||||||
chr20:35472461 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.1051-212T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 11/34 | chr20 | 35472461 | |||||||
chr20:35472492 | G | A | 1 | a0001c0001t0065g0152 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1051-181G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 11/34 | chr20 | 35472492 | |||||||
chr20:35473125 | G | C | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1210-249G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 12/34 | chr20 | 35473125 | |||||||
chr20:35473202 | C | G | 1 | a0001c0001t0001g0207 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1210-172C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 12/34 | chr20 | 35473202 | |||||||
chr20:35473753 | C | T | 89 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(86): Show |
103 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.1389-117C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 13/34 | chr20 | 35473753 | |||||||
chr20:35474093 | T | C | 4 | a0001c0001t0011g0150 a0001c0001t0011g0154 a0001c0001t0011g0155 others(1): Show |
4 | HG02698.hp1 HG03491.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.1571+41T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474093 | |||||||
chr20:35474097 | C | A | 1 | a0007c0008t0001g0157 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1571+45C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474097 | |||||||
chr20:35474221 | C | T | 1 | a0001c0003t0050g0106 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1571+169C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474221 | |||||||
chr20:35474385 | C | G | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1571+333C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474385 | |||||||
chr20:35474569 | C | G | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.1571+517C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474569 | |||||||
chr20:35474817 | T | C | 97 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(94): Show |
111 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(108): Show |
intron_variant | MODIFIER | c.1572-685T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474817 | |||||||
chr20:35474864 | A | G | 2 | a0001c0011t0023g0042 a0013c0016t0023g0043 |
2 | HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.1572-638A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474864 | |||||||
chr20:35474885 | T | C | 94 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(91): Show |
108 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.1572-617T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35474885 | |||||||
chr20:35475029 | C | T | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.1572-473C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475029 | |||||||
chr20:35475050 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0158 |
3 | HG01168.hp1 HG01169.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1572-452T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475050 | |||||||
chr20:35475160 | G | A | 2 | a0001c0003t0049g0230 a0001c0003t0050g0106 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1572-342G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475160 | |||||||
chr20:35475209 | C | T | 115 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(112): Show |
121 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(118): Show |
intron_variant | MODIFIER | c.1572-293C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475209 | |||||||
chr20:35475270 | C | T | 129 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(126): Show |
135 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1572-232C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475270 | |||||||
chr20:35475366 | T | C | 2 | a0002c0002t0002g0052 a0002c0002t0002g0058 |
2 | HG03704.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1572-136T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 14/34 | chr20 | 35475366 | |||||||
chr20:35475678 | G | A | 1 | a0001c0001t0001g0159 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1716+32G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35475678 | |||||||
chr20:35475947 | A | G | 2 | a0001c0001t0003g0044 a0004c0006t0044g0022 |
2 | HG02572.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1716+301A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35475947 | |||||||
chr20:35476040 | G | A | 97 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(94): Show |
111 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(108): Show |
intron_variant | MODIFIER | c.1716+394G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35476040 | |||||||
chr20:35476143 | C | T | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1717-306C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35476143 | |||||||
chr20:35476210 | T | C | 2 | a0006c0010t0020g0038 a0006c0010t0020g0039 |
2 | HG02486.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1717-239T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35476210 | |||||||
chr20:35476278 | T | G | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1717-171T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 15/34 | chr20 | 35476278 | |||||||
chr20:35476653 | C | T | 19 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0084 others(16): Show |
20 | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(17): Show |
intron_variant | MODIFIER | c.1863+58C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35476653 | |||||||
chr20:35476676 | C | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.1863+81C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35476676 | |||||||
chr20:35476876 | T | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1863+281T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35476876 | |||||||
chr20:35477084 | C | T | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1863+489C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477084 | |||||||
chr20:35477085 | G | A | 23 | a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 others(20): Show |
24 | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.1863+490G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477085 | |||||||
chr20:35477128 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.1863+533A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477128 | |||||||
chr20:35477151 | C | G | 3 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0018c0032t0001g0204 |
3 | HG03098.hp2 NA19043.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1863+556C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477151 | |||||||
chr20:35477192 | T | C | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1863+597T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477192 | |||||||
chr20:35477209 | A | G | 235 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.1863+614A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477209 | |||||||
chr20:35477263 | G | A | 2 | a0001c0001t0002g0100 a0001c0021t0002g0024 |
2 | HG00140.hp2 HG01934.hp2 |
intron_variant | MODIFIER | c.1864-608G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477263 | |||||||
chr20:35477272 | A | G | 1 | a0001c0003t0050g0106 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1864-599A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477272 | |||||||
chr20:35477300 | A | G | 129 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(126): Show |
135 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1864-571A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477300 | |||||||
chr20:35477370 | A | G | 129 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(126): Show |
135 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1864-501A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477370 | |||||||
chr20:35477504 | A | G | 1 | a0001c0001t0001g0203 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1864-367A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 16/34 | chr20 | 35477504 | |||||||
chr20:35478292 | C | T | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2094+191C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478292 | |||||||
chr20:35478348 | C | T | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2094+247C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478348 | |||||||
chr20:35478381 | A | G | 3 | a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0081 |
3 | HG03195.hp2 NA18906.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2094+280A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478381 | |||||||
chr20:35478450 | A | G | 2 | a0007c0008t0001g0157 a0007c0008t0001g0202 |
2 | NA18967.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.2094+349A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478450 | |||||||
chr20:35478487 | T | C | 129 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(126): Show |
135 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.2094+386T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478487 | |||||||
chr20:35478521 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(91): Show |
108 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(105): Show |
intron_variant | MODIFIER | c.2094+420C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478521 | |||||||
chr20:35478748 | A | G | 6 | a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0003g0096 others(3): Show |
6 | HG02602.hp2 HG02698.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.2095-483A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478748 | |||||||
chr20:35478820 | T | C | 129 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(126): Show |
135 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.2095-411T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35478820 | |||||||
chr20:35479032 | C | A | 3 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 |
3 | HG02965.hp1 HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2095-199C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35479032 | |||||||
chr20:35479165 | C | T | 2 | a0001c0001t0001g0200 a0001c0001t0001g0201 |
2 | HG00639.hp2 HG01099.hp2 |
intron_variant | MODIFIER | c.2095-66C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 17/34 | chr20 | 35479165 | |||||||
chr20:35479836 | G | T | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0003t0003g0108 |
3 | HG02809.hp2 HG02895.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2416+63G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 19/34 | chr20 | 35479836 | |||||||
chr20:35480164 | C | T | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2586+19C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480164 | |||||||
chr20:35480335 | A | G | 63 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(60): Show |
67 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.2586+190A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480335 | |||||||
chr20:35480360 | G | T | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2586+215G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480360 | |||||||
chr20:35480537 | T | C | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2586+392T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480537 | |||||||
chr20:35480557 | C | G | 115 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(112): Show |
121 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(118): Show |
intron_variant | MODIFIER | c.2586+412C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480557 | |||||||
chr20:35480590 | C | CT | 125 | a0001c0001t0001g0017 a0001c0001t0001g0212 a0001c0001t0002g0100 others(122): Show |
132 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.2586+463dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35480590 | ||||||
chr20:35480870 | G | A | 64 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(61): Show |
68 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.2586+725G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35480870 | |||||||
chr20:35481006 | T | C | 2 | a0001c0003t0049g0230 a0001c0003t0050g0106 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2586+861T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481006 | |||||||
chr20:35481106 | C | T | 1 | a0001c0001t0001g0197 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2586+961C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481106 | |||||||
chr20:35481117 | T | A | 2 | a0001c0001t0018g0144 a0001c0001t0018g0145 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2586+972T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481117 | |||||||
chr20:35481262 | A | T | 1 | a0001c0001t0001g0196 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2586+1117A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481262 | |||||||
chr20:35481545 | A | G | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.2586+1400A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481545 | |||||||
chr20:35481607 | T | C | 1 | a0001c0003t0004g0109 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.2586+1462T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481607 | |||||||
chr20:35481618 | A | AT | 26 | a0001c0001t0001g0206 a0001c0001t0018g0144 a0001c0001t0018g0145 others(23): Show |
26 | HG01884.hp1 HG01891.hp1 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.2586+1491dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35481618 | ||||||
chr20:35481675 | A | G | 1 | a0002c0002t0002g0076 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2586+1530A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481675 | |||||||
chr20:35481729 | G | T | 14 | a0001c0001t0001g0016 a0001c0001t0001g0146 a0001c0001t0001g0149 others(11): Show |
15 | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.2586+1584G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481729 | |||||||
chr20:35481780 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2586+1635G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481780 | |||||||
chr20:35481947 | G | A | 1 | a0001c0001t0034g0163 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2586+1802G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35481947 | |||||||
chr20:35482048 | A | AATAG | 24 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(21): Show |
24 | HG00423.hp2 HG00738.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.2586+1958_2586+196 others(8): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482048 | A | AATAGATA others(1): Show |
7 | a0001c0001t0001g0160 a0001c0001t0001g0226 a0001c0001t0011g0154 others(4): Show |
8 | HG01109.hp2 HG01192.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.2586+1954_2586+196 others(12): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482048 | AATAG | A | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(95): Show |
111 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.2586+1958_2586+196 others(8): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482048 | AATAGATA others(1): Show |
A | 27 | a0001c0001t0001g0016 a0001c0001t0001g0149 a0001c0001t0001g0182 others(24): Show |
28 | HG00597.hp1 HG00738.hp2 HG00741.hp1 others(25): Show |
intron_variant | MODIFIER | c.2586+1954_2586+196 others(12): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482048 | AATAGATA others(5): Show |
A | 3 | a0001c0001t0001g0215 a0001c0001t0045g0092 a0001c0001t0051g0093 |
3 | HG02145.hp2 HG02818.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.2586+1950_2586+196 others(16): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482048 | AATAGATA others(17): Show |
A | 2 | a0001c0003t0004g0125 a0001c0003t0046g0126 |
2 | HG02165.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.2586+1938_2586+196 others(28): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482048 | ||||||
chr20:35482231 | TTTTG | T | 110 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(107): Show |
116 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(113): Show |
intron_variant | MODIFIER | c.2586+2098_2586+210 others(8): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35482231 | ||||||
chr20:35482259 | T | C | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.2586+2114T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482259 | |||||||
chr20:35482263 | G | A | 3 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 |
3 | HG02965.hp1 HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2586+2118G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482263 | |||||||
chr20:35482321 | T | C | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.2586+2176T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482321 | |||||||
chr20:35482418 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2273T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482418 | |||||||
chr20:35482421 | AAAAATTT others(2): Show |
A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2277_2586+228 others(13): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482421 | |||||||
chr20:35482431 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2286T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482431 | |||||||
chr20:35482432 | G | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2287G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482432 | |||||||
chr20:35482433 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2288T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482433 | |||||||
chr20:35482434 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2289A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482434 | |||||||
chr20:35482555 | T | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(111): Show |
129 | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.2586+2410T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482555 | |||||||
chr20:35482857 | G | T | 1 | a0001c0001t0001g0186 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2586+2712G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482857 | |||||||
chr20:35482858 | C | T | 1 | a0001c0001t0001g0186 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2586+2713C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35482858 | |||||||
chr20:35483026 | T | A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2586+2881T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483026 | |||||||
chr20:35483039 | G | T | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2586+2894G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483039 | |||||||
chr20:35483150 | G | A | 1 | a0006c0010t0059g0040 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2586+3005G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483150 | |||||||
chr20:35483179 | G | A | 5 | a0005c0007t0021g0014 a0005c0007t0021g0131 a0005c0007t0022g0130 others(2): Show |
5 | HG02630.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.2586+3034G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483179 | |||||||
chr20:35483274 | C | G | 1 | a0001c0001t0029g0171 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2586+3129C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483274 | |||||||
chr20:35483320 | CA | C | 26 | a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0214 others(23): Show |
26 | HG00140.hp1 HG01515.hp1 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.2586+3190delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35483320 | ||||||
chr20:35483320 | CAA | C | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2586+3189_2586+319 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35483320 | ||||||
chr20:35483324 | AAAAAAAA others(8): Show |
A | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2586+3180_2586+319 others(19): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483324 | |||||||
chr20:35483327 | A | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2586+3182A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483327 | |||||||
chr20:35483335 | A | T | 202 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(199): Show |
222 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(219): Show |
intron_variant | MODIFIER | c.2586+3190A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483335 | |||||||
chr20:35483347 | A | T | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2586+3202A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483347 | |||||||
chr20:35483539 | AT | A | 5 | a0001c0001t0003g0027 a0002c0002t0015g0066 a0006c0010t0020g0038 others(2): Show |
5 | HG01167.hp2 HG02486.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.2586+3408delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35483539 | ||||||
chr20:35483595 | C | A | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2586+3450C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483595 | |||||||
chr20:35483675 | T | A | 1 | a0001c0001t0012g0172 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2586+3530T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35483675 | |||||||
chr20:35484295 | T | C | 6 | a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 others(3): Show |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2586+4150T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35484295 | |||||||
chr20:35484614 | AT | A | 22 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0044 others(19): Show |
23 | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.2586+4480delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35484614 | ||||||
chr20:35484859 | T | G | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2586+4714T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35484859 | |||||||
chr20:35484945 | C | T | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2586+4800C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35484945 | |||||||
chr20:35485064 | T | TA | 112 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(109): Show |
118 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.2586+4939dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485064 | ||||||
chr20:35485064 | T | TAA | 9 | a0001c0001t0043g0099 a0001c0001t0047g0094 a0001c0003t0004g0121 others(6): Show |
9 | HG01192.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.2586+4938_2586+493 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485064 | ||||||
chr20:35485064 | T | TAAA | 5 | a0001c0005t0010g0137 a0001c0005t0010g0139 a0001c0005t0010g0140 others(2): Show |
5 | HG01261.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.2586+4937_2586+493 others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485064 | ||||||
chr20:35485064 | T | TTA | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2586+4919_2586+492 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485064 | |||||||
chr20:35485064 | TA | T | 93 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
107 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.2586+4939delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485064 | ||||||
chr20:35485125 | C | A | 23 | a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 others(20): Show |
24 | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.2586+4980C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485125 | |||||||
chr20:35485232 | G | A | 1 | a0001c0001t0003g0232 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2586+5087G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485232 | |||||||
chr20:35485352 | C | G | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.2586+5207C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485352 | |||||||
chr20:35485373 | C | CA | 7 | a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0011g0155 others(4): Show |
7 | HG01106.hp2 HG01175.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2586+5245dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485373 | ||||||
chr20:35485373 | C | CAA | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.2586+5244_2586+524 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485373 | ||||||
chr20:35485555 | A | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
110 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(107): Show |
intron_variant | MODIFIER | c.2587-5082A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485555 | |||||||
chr20:35485613 | C | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2587-5024C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35485613 | |||||||
chr20:35485645 | C | CT | 39 | a0001c0001t0001g0016 a0001c0001t0001g0146 a0001c0001t0001g0149 others(36): Show |
42 | HG00423.hp1 HG00597.hp1 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.2587-4961dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | C | CTT | 48 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(45): Show |
56 | HG00140.hp1 HG00639.hp2 HG00741.hp1 others(53): Show |
intron_variant | MODIFIER | c.2587-4962_2587-496 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | C | CTTT | 28 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0143 others(25): Show |
32 | HG00099.hp1 HG00597.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.2587-4963_2587-496 others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | C | CTTTT | 5 | a0001c0001t0001g0015 a0001c0001t0001g0180 a0001c0001t0001g0212 others(2): Show |
6 | HG01168.hp1 HG01169.hp2 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.2587-4964_2587-496 others(8): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | CT | C | 14 | a0001c0001t0003g0027 a0001c0001t0003g0084 a0001c0001t0003g0085 others(11): Show |
14 | HG00099.hp2 HG01167.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.2587-4961delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | CTTTTTT | C | 6 | a0001c0011t0062g0133 a0005c0007t0021g0014 a0005c0007t0022g0130 others(3): Show |
6 | HG02451.hp2 HG02559.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.2587-4966_2587-496 others(10): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | CTTTTTTT others(4): Show |
C | 1 | a0003c0004t0025g0034 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2587-4971_2587-496 others(15): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | CTTTTTTT others(5): Show |
C | 11 | a0001c0001t0003g0097 a0001c0003t0007g0123 a0001c0003t0046g0126 others(8): Show |
11 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.2587-4972_2587-496 others(16): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485645 | CTTTTTTT others(6): Show |
C | 21 | a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 others(18): Show |
22 | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(19): Show |
intron_variant | MODIFIER | c.2587-4973_2587-496 others(17): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485645 | ||||||
chr20:35485822 | G | GT | 5 | a0001c0001t0001g0179 a0001c0003t0007g0119 a0001c0003t0007g0123 others(2): Show |
5 | HG01175.hp1 HG02280.hp1 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.2587-4795dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485822 | ||||||
chr20:35485822 | GT | G | 104 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(101): Show |
109 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.2587-4795delT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35485822 | ||||||
chr20:35486033 | C | CT | 14 | a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0003t0004g0112 others(11): Show |
14 | HG01884.hp1 HG02165.hp1 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.2587-4586dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35486033 | ||||||
chr20:35486033 | C | CTT | 16 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(13): Show |
16 | HG01109.hp2 HG01261.hp1 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.2587-4587_2587-458 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35486033 | ||||||
chr20:35486033 | C | CTTT | 7 | a0001c0011t0023g0042 a0005c0007t0021g0014 a0005c0007t0021g0131 others(4): Show |
7 | HG02451.hp2 HG02572.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2587-4588_2587-458 others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35486033 | ||||||
chr20:35486082 | G | C | 1 | a0004c0006t0009g0023 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2587-4555G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486082 | |||||||
chr20:35486101 | G | A | 2 | a0001c0001t0012g0167 a0001c0001t0012g0174 |
2 | HG01071.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.2587-4536G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486101 | |||||||
chr20:35486235 | G | A | 1 | a0001c0003t0004g0122 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.2587-4402G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486235 | |||||||
chr20:35486286 | TTGTACAA others(6): Show |
T | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2587-4341_2587-432 others(17): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35486286 | ||||||
chr20:35486689 | T | C | 1 | a0001c0011t0062g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2587-3948T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486689 | |||||||
chr20:35486840 | T | A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2587-3797T>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486840 | |||||||
chr20:35486948 | G | A | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2587-3689G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35486948 | |||||||
chr20:35487002 | A | C | 1 | a0011c0014t0055g0028 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2587-3635A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487002 | |||||||
chr20:35487005 | G | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(67): Show |
83 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.2587-3632G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487005 | |||||||
chr20:35487082 | A | G | 2 | a0001c0003t0049g0230 a0001c0003t0050g0106 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2587-3555A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487082 | |||||||
chr20:35487118 | G | A | 19 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0084 others(16): Show |
20 | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(17): Show |
intron_variant | MODIFIER | c.2587-3519G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487118 | |||||||
chr20:35487189 | C | T | 110 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(107): Show |
116 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(113): Show |
intron_variant | MODIFIER | c.2587-3448C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487189 | |||||||
chr20:35487243 | G | A | 23 | a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 others(20): Show |
24 | HG00423.hp2 HG01175.hp1 HG01993.hp2 others(21): Show |
intron_variant | MODIFIER | c.2587-3394G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487243 | |||||||
chr20:35487272 | A | C | 1 | a0001c0001t0013g0165 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2587-3365A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487272 | |||||||
chr20:35487706 | G | A | 46 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0044 others(43): Show |
48 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.2587-2931G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487706 | |||||||
chr20:35487769 | C | T | 1 | a0001c0001t0001g0217 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2587-2868C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487769 | |||||||
chr20:35487786 | A | T | 2 | a0001c0001t0002g0103 a0016c0015t0002g0102 |
2 | NA18953.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.2587-2851A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487786 | |||||||
chr20:35487861 | T | G | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.2587-2776T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487861 | |||||||
chr20:35487862 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.2587-2775T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35487862 | |||||||
chr20:35488063 | A | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2587-2574A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488063 | |||||||
chr20:35488172 | T | C | 63 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(60): Show |
67 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.2587-2465T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488172 | |||||||
chr20:35488328 | C | T | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2587-2309C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488328 | |||||||
chr20:35488403 | T | C | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2587-2234T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488403 | |||||||
chr20:35488621 | A | G | 1 | a0017c0020t0008g0064 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.2587-2016A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488621 | |||||||
chr20:35488744 | G | T | 1 | a0001c0001t0001g0164 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2587-1893G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488744 | |||||||
chr20:35488954 | A | G | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.2587-1683A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488954 | |||||||
chr20:35488957 | G | A | 1 | a0001c0003t0004g0124 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.2587-1680G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35488957 | |||||||
chr20:35489028 | A | G | 2 | a0001c0001t0018g0144 a0001c0001t0018g0145 |
2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2587-1609A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489028 | |||||||
chr20:35489181 | C | G | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2587-1456C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489181 | |||||||
chr20:35489187 | C | CAA | 107 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(104): Show |
112 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.2587-1436_2587-143 others(6): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35489187 | ||||||
chr20:35489187 | C | CAAA | 20 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0084 others(17): Show |
21 | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(18): Show |
intron_variant | MODIFIER | c.2587-1437_2587-143 others(7): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr20 | 35489187 | ||||||
chr20:35489473 | A | G | 2 | a0001c0001t0066g0178 a0001c0001t0067g0195 |
2 | HG02083.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.2587-1164A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489473 | |||||||
chr20:35489557 | A | G | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2587-1080A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489557 | |||||||
chr20:35489577 | T | C | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.2587-1060T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489577 | |||||||
chr20:35489706 | A | C | 226 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.2587-931A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489706 | |||||||
chr20:35489845 | A | C | 1 | a0005c0007t0022g0130 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2587-792A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35489845 | |||||||
chr20:35490022 | G | A | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.2587-615G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490022 | |||||||
chr20:35490090 | A | G | 1 | a0001c0001t0001g0188 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2587-547A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490090 | |||||||
chr20:35490141 | C | T | 1 | a0001c0003t0007g0117 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2587-496C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490141 | |||||||
chr20:35490267 | C | T | 1 | a0001c0005t0010g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2587-370C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490267 | |||||||
chr20:35490301 | A | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2587-336A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490301 | |||||||
chr20:35490602 | A | G | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2587-35A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 20/34 | chr20 | 35490602 | |||||||
chr20:35490955 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2754+151G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 21/34 | chr20 | 35490955 | |||||||
chr20:35491154 | C | T | 1 | a0001c0001t0001g0015 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2755-58C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 21/34 | chr20 | 35491154 | |||||||
chr20:35491374 | G | A | 6 | a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0200 others(3): Show |
6 | HG00639.hp2 HG00741.hp2 HG01099.hp2 others(3): Show |
intron_variant | MODIFIER | c.2889+28G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491374 | |||||||
chr20:35491411 | G | A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2889+65G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491411 | |||||||
chr20:35491537 | G | T | 1 | a0002c0002t0002g0068 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2889+191G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491537 | |||||||
chr20:35491668 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.2889+322T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491668 | |||||||
chr20:35491885 | G | C | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2889+539G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491885 | |||||||
chr20:35491895 | C | CA | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(95): Show |
112 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(109): Show |
intron_variant | MODIFIER | c.2889+572dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr20 | 35491895 | ||||||
chr20:35491895 | C | CAA | 8 | a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0217 others(5): Show |
8 | HG02109.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2889+571_2889+572d others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr20 | 35491895 | ||||||
chr20:35491895 | CA | C | 7 | a0001c0001t0003g0088 a0001c0001t0003g0097 a0001c0003t0004g0025 others(4): Show |
7 | HG01070.hp2 HG02698.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2889+572delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr20 | 35491895 | ||||||
chr20:35491918 | A | T | 1 | a0001c0003t0004g0111 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2889+572A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35491918 | |||||||
chr20:35492165 | A | G | 2 | a0001c0001t0005g0041 a0015c0024t0005g0077 |
2 | NA18948.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2889+819A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492165 | |||||||
chr20:35492176 | C | G | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2889+830C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492176 | |||||||
chr20:35492381 | G | A | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2889+1035G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492381 | |||||||
chr20:35492537 | A | C | 1 | a0001c0001t0019g0153 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2890-892A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492537 | |||||||
chr20:35492677 | G | C | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2890-752G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492677 | |||||||
chr20:35492848 | C | T | 67 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(64): Show |
80 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(77): Show |
intron_variant | MODIFIER | c.2890-581C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492848 | |||||||
chr20:35492862 | G | A | 2 | a0001c0001t0012g0167 a0001c0001t0012g0174 |
2 | HG01071.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.2890-567G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492862 | |||||||
chr20:35492873 | G | A | 1 | a0001c0001t0039g0056 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2890-556G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492873 | |||||||
chr20:35492940 | G | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.2890-489G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35492940 | |||||||
chr20:35493007 | C | T | 1 | a0004c0006t0044g0022 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2890-422C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35493007 | |||||||
chr20:35493053 | G | T | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2890-376G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35493053 | |||||||
chr20:35493063 | G | T | 1 | a0001c0003t0004g0124 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.2890-366G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35493063 | |||||||
chr20:35493388 | C | T | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.2890-41C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 22/34 | chr20 | 35493388 | |||||||
chr20:35493600 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3033+28A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35493600 | |||||||
chr20:35493675 | G | A | 1 | a0019c0028t0001g0177 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3033+103G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35493675 | |||||||
chr20:35493741 | A | G | 1 | a0001c0001t0003g0096 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3033+169A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35493741 | |||||||
chr20:35494012 | T | C | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3033+440T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35494012 | |||||||
chr20:35494194 | G | A | 2 | a0001c0003t0049g0230 a0001c0003t0050g0106 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.3034-330G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35494194 | |||||||
chr20:35494223 | C | CT | 64 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(61): Show |
68 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.3034-299dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr20 | 35494223 | ||||||
chr20:35494360 | G | C | 1 | a0001c0026t0019g0221 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3034-164G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 23/34 | chr20 | 35494360 | |||||||
chr20:35494784 | A | T | 1 | a0001c0001t0003g0090 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3167+127A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35494784 | |||||||
chr20:35494855 | T | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3167+198T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35494855 | |||||||
chr20:35494976 | C | CAG | 226 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.3167+319_3167+320i others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35494976 | |||||||
chr20:35495311 | T | G | 1 | a0001c0001t0001g0219 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.3167+654T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495311 | |||||||
chr20:35495335 | T | C | 18 | a0002c0002t0002g0012 a0002c0002t0002g0047 a0002c0002t0002g0048 others(15): Show |
18 | HG00423.hp1 HG00597.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.3167+678T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495335 | |||||||
chr20:35495380 | G | A | 2 | a0001c0003t0049g0230 a0001c0003t0050g0106 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.3167+723G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495380 | |||||||
chr20:35495497 | C | A | 1 | a0001c0005t0064g0136 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3167+840C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495497 | |||||||
chr20:35495767 | A | T | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3168-810A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495767 | |||||||
chr20:35495923 | T | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3168-654T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35495923 | |||||||
chr20:35496135 | G | C | 1 | a0001c0001t0048g0089 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3168-442G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35496135 | |||||||
chr20:35496152 | G | A | 1 | a0001c0001t0032g0194 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.3168-425G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35496152 | |||||||
chr20:35496215 | C | T | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3168-362C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 24/34 | chr20 | 35496215 | |||||||
chr20:35496788 | C | G | 1 | a0002c0002t0002g0075 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3306+73C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35496788 | |||||||
chr20:35496921 | A | G | 2 | a0001c0001t0003g0027 a0001c0001t0048g0089 |
2 | HG01167.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3306+206A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35496921 | |||||||
chr20:35496964 | C | CAG | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3306+249_3306+250i others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35496964 | |||||||
chr20:35497086 | A | G | 1 | a0001c0001t0012g0167 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.3306+371A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35497086 | |||||||
chr20:35497230 | T | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3307-489T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35497230 | |||||||
chr20:35497377 | T | C | 1 | a0001c0001t0001g0148 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3307-342T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35497377 | |||||||
chr20:35497699 | G | A | 2 | a0001c0001t0001g0200 a0001c0001t0001g0201 |
2 | HG00639.hp2 HG01099.hp2 |
intron_variant | MODIFIER | c.3307-20G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 25/34 | chr20 | 35497699 | |||||||
chr20:35498319 | A | G | 212 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(209): Show |
232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.3655+252A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498319 | |||||||
chr20:35498351 | G | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3656-244G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498351 | |||||||
chr20:35498363 | C | T | 1 | a0001c0003t0003g0108 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3656-232C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498363 | |||||||
chr20:35498470 | T | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3656-125T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498470 | |||||||
chr20:35498491 | C | T | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.3656-104C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498491 | |||||||
chr20:35498554 | A | G | 2 | a0002c0002t0015g0066 a0002c0002t0015g0134 |
2 | NA18946.hp2 NA18967.hp1 |
intron_variant | MODIFIER | c.3656-41A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 26/34 | chr20 | 35498554 | |||||||
chr20:35498753 | A | G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0158 |
3 | HG01168.hp1 HG01169.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.3777+37A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35498753 | |||||||
chr20:35498816 | A | G | 3 | a0007c0008t0001g0157 a0007c0008t0001g0168 a0007c0008t0001g0202 |
3 | NA18957.hp1 NA18967.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.3777+100A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35498816 | |||||||
chr20:35499141 | G | A | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3777+425G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499141 | |||||||
chr20:35499165 | C | T | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3777+449C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499165 | |||||||
chr20:35499321 | C | T | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3777+605C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499321 | |||||||
chr20:35499409 | T | C | 2 | a0002c0002t0002g0008 a0002c0002t0002g0055 |
3 | HG00642.hp1 HG01099.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.3778-640T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499409 | |||||||
chr20:35499452 | C | T | 3 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 |
3 | HG01934.hp1 HG01952.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.3778-597C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499452 | |||||||
chr20:35499464 | C | A | 1 | a0001c0001t0001g0217 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3778-585C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499464 | |||||||
chr20:35499480 | C | G | 64 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(61): Show |
68 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.3778-569C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499480 | |||||||
chr20:35499612 | A | G | 1 | a0001c0022t0056g0222 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3778-437A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499612 | |||||||
chr20:35499648 | C | T | 2 | a0001c0011t0023g0042 a0013c0016t0023g0043 |
2 | HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.3778-401C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499648 | |||||||
chr20:35499853 | A | G | 8 | a0001c0003t0004g0107 a0001c0003t0007g0115 a0001c0003t0007g0116 others(5): Show |
8 | HG01175.hp1 HG02602.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.3778-196A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499853 | |||||||
chr20:35499909 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3778-140A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35499909 | |||||||
chr20:35500003 | G | A | 1 | a0001c0001t0001g0015 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3778-46G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 27/34 | chr20 | 35500003 | |||||||
chr20:35500297 | C | G | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3898+128C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500297 | |||||||
chr20:35500322 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0158 |
3 | HG01168.hp1 HG01169.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.3898+153T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500322 | |||||||
chr20:35500630 | T | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3898+461T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500630 | |||||||
chr20:35500691 | G | A | 1 | a0006c0010t0059g0040 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3898+522G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500691 | |||||||
chr20:35500803 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3898+634T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500803 | |||||||
chr20:35500857 | C | T | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.3898+688C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500857 | |||||||
chr20:35500904 | T | C | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.3898+735T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500904 | |||||||
chr20:35500935 | A | G | 93 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(90): Show |
107 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.3898+766A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35500935 | |||||||
chr20:35501196 | G | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.3899-649G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35501196 | |||||||
chr20:35501210 | A | T | 1 | a0002c0002t0008g0069 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3899-635A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35501210 | |||||||
chr20:35501252 | G | A | 1 | a0002c0002t0002g0105 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.3899-593G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35501252 | |||||||
chr20:35501623 | G | A | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.3899-222G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35501623 | |||||||
chr20:35501788 | A | G | 1 | a0001c0005t0010g0139 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3899-57A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 28/34 | chr20 | 35501788 | |||||||
chr20:35502269 | C | CT | 106 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(103): Show |
120 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(117): Show |
intron_variant | MODIFIER | c.4021-113dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 29/34 | INFO_REALIGN_3_PRIME | chr20 | 35502269 | ||||||
chr20:35502305 | A | C | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.4021-85A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 29/34 | chr20 | 35502305 | |||||||
chr20:35505080 | C | G | 1 | a0001c0003t0003g0108 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.6636+75C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505080 | |||||||
chr20:35505181 | G | T | 1 | a0012c0027t0058g0114 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.6636+176G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505181 | |||||||
chr20:35505188 | A | C | 235 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.6636+183A>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505188 | |||||||
chr20:35505237 | C | T | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.6636+232C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505237 | |||||||
chr20:35505325 | G | A | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.6636+320G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505325 | |||||||
chr20:35505419 | G | A | 2 | a0002c0002t0002g0054 a0002c0002t0002g0076 |
2 | HG03139.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.6636+414G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505419 | |||||||
chr20:35505485 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.6636+480T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505485 | |||||||
chr20:35505601 | C | T | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.6636+596C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505601 | |||||||
chr20:35505652 | C | CA | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(74): Show |
89 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.6636+666dupA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 35505652 | ||||||
chr20:35505652 | C | CAA | 8 | a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0065g0152 others(5): Show |
8 | HG01109.hp2 HG01261.hp1 HG01515.hp2 others(5): Show |
intron_variant | MODIFIER | c.6636+665_6636+666d others(4): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 35505652 | ||||||
chr20:35505652 | CA | C | 27 | a0001c0001t0003g0027 a0001c0001t0051g0093 a0002c0002t0002g0008 others(24): Show |
29 | HG00423.hp1 HG00597.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.6636+666delA | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | 35505652 | ||||||
chr20:35505791 | G | A | 2 | a0001c0011t0023g0042 a0013c0016t0023g0043 |
2 | HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.6636+786G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505791 | |||||||
chr20:35505855 | A | G | 1 | a0001c0001t0005g0070 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.6636+850A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505855 | |||||||
chr20:35505877 | G | C | 1 | a0001c0003t0004g0124 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.6636+872G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505877 | |||||||
chr20:35505928 | C | T | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.6636+923C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505928 | |||||||
chr20:35505999 | A | G | 3 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 |
3 | HG01934.hp1 HG01952.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.6636+994A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35505999 | |||||||
chr20:35506477 | C | T | 1 | a0002c0002t0002g0135 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.6637-1261C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506477 | |||||||
chr20:35506524 | G | A | 6 | a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 others(3): Show |
6 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.6637-1214G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506524 | |||||||
chr20:35506701 | G | C | 10 | a0001c0001t0003g0013 a0001c0001t0003g0084 a0001c0001t0003g0086 others(7): Show |
11 | HG00642.hp2 HG01081.hp1 HG02602.hp2 others(8): Show |
intron_variant | MODIFIER | c.6637-1037G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506701 | |||||||
chr20:35506712 | C | T | 1 | a0001c0001t0005g0073 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.6637-1026C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506712 | |||||||
chr20:35506720 | C | T | 46 | a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0044 others(43): Show |
48 | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.6637-1018C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506720 | |||||||
chr20:35506744 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.6637-994G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506744 | |||||||
chr20:35506896 | G | T | 1 | a0002c0002t0002g0050 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.6637-842G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506896 | |||||||
chr20:35506948 | C | T | 1 | a0001c0001t0032g0194 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.6637-790C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35506948 | |||||||
chr20:35507013 | C | A | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.6637-725C>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35507013 | |||||||
chr20:35507101 | G | A | 3 | a0006c0010t0020g0038 a0006c0010t0020g0039 a0006c0010t0059g0040 |
3 | HG02486.hp2 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.6637-637G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35507101 | |||||||
chr20:35507227 | C | G | 2 | a0006c0010t0020g0038 a0006c0010t0020g0039 |
2 | HG02486.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.6637-511C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35507227 | |||||||
chr20:35507394 | C | T | 6 | a0001c0001t0003g0084 a0001c0001t0003g0095 a0001c0001t0003g0096 others(3): Show |
6 | HG02602.hp2 HG02698.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.6637-344C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 30/34 | chr20 | 35507394 | |||||||
chr20:35507857 | C | G | 9 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(6): Show |
9 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show |
splice_region_variant&intron_variant | LOW | c.6750+6C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 31/34 | chr20 | 35507857 | |||||||
chr20:35507987 | A | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.6751-48A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 31/34 | chr20 | 35507987 | |||||||
chr20:35508234 | G | A | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6906+44G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508234 | |||||||
chr20:35508317 | G | T | 1 | a0001c0001t0003g0027 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.6906+127G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508317 | |||||||
chr20:35508350 | G | A | 8 | a0001c0011t0023g0042 a0001c0011t0062g0133 a0005c0007t0021g0014 others(5): Show |
8 | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.6906+160G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508350 | |||||||
chr20:35508547 | T | C | 1 | a0001c0011t0062g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6906+357T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508547 | |||||||
chr20:35508555 | C | T | 1 | a0001c0001t0013g0216 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.6906+365C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508555 | |||||||
chr20:35508556 | G | A | 63 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(60): Show |
67 | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.6906+366G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508556 | |||||||
chr20:35508564 | C | T | 1 | a0001c0001t0048g0089 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6906+374C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508564 | |||||||
chr20:35508652 | T | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.6907-291T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508652 | |||||||
chr20:35508752 | T | C | 116 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(113): Show |
122 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.6907-191T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508752 | |||||||
chr20:35508798 | G | C | 1 | a0020c0030t0057g0224 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.6907-145G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508798 | |||||||
chr20:35508896 | A | G | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.6907-47A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508896 | |||||||
chr20:35508910 | C | T | 1 | a0001c0001t0019g0153 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.6907-33C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 32/34 | chr20 | 35508910 | |||||||
chr20:35509307 | G | A | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(88): Show |
105 | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.7008+263G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/34 | chr20 | 35509307 | |||||||
chr20:35509524 | T | C | 130 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(127): Show |
136 | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.7009-474T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/34 | chr20 | 35509524 | |||||||
chr20:35509529 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.7009-469G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/34 | chr20 | 35509529 | |||||||
chr20:35509819 | G | T | 1 | a0001c0029t0038g0223 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.7009-179G>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/34 | chr20 | 35509819 | |||||||
chr20:35509875 | A | T | 1 | a0001c0001t0019g0153 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.7009-123A>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 33/34 | chr20 | 35509875 | |||||||
chr20:35510140 | C | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.7065+86C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510140 | |||||||
chr20:35510282 | A | G | 226 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.7065+228A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510282 | |||||||
chr20:35510561 | T | G | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.7065+507T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510561 | |||||||
chr20:35510677 | A | G | 1 | a0001c0011t0062g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.7065+623A>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510677 | |||||||
chr20:35510724 | G | A | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.7066-639G>A | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510724 | |||||||
chr20:35510753 | C | T | 1 | a0001c0001t0036g0169 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.7066-610C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510753 | |||||||
chr20:35510863 | T | G | 8 | a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 others(5): Show |
8 | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.7066-500T>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510863 | |||||||
chr20:35510878 | G | C | 14 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(11): Show |
14 | HG01109.hp2 HG01261.hp1 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.7066-485G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35510878 | |||||||
chr20:35511273 | C | T | 6 | a0001c0011t0062g0133 a0005c0007t0021g0014 a0005c0007t0021g0131 others(3): Show |
6 | HG02559.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.7066-90C>T | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35511273 | |||||||
chr20:35511303 | C | G | 6 | a0001c0005t0010g0137 a0001c0005t0010g0138 a0001c0005t0010g0139 others(3): Show |
6 | HG01109.hp2 HG01261.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.7066-60C>G | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35511303 | |||||||
chr20:35511334 | CG | C | 18 | a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(15): Show |
18 | HG00639.hp2 HG01099.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.7066-28delG | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35511334 | |||||||
chr20:35511335 | G | C | 220 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(217): Show |
240 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
intron_variant | MODIFIER | c.7066-28G>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35511335 | |||||||
chr20:35511336 | C | CT | 5 | a0001c0001t0001g0206 a0001c0001t0003g0098 a0002c0002t0002g0049 others(2): Show |
5 | HG03098.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.7066-13dupT | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr20 | 35511336 | ||||||
chr20:35511337 | T | C | 18 | a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(15): Show |
18 | HG00639.hp2 HG01099.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.7066-26T>C | CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 34/34 | chr20 | 35511337 |