Item | Value |
---|---|
geneid | 1066 |
ensemblid | ENSG00000198848.13 |
hgncid | 1863 |
symbol | CES1 |
name | carboxylesterase 1 |
refseq_nuc | NM_001025195.2 |
refseq_prot | NP_001020366.1 |
ensembl_nuc | ENST00000360526.8 |
ensembl_prot | ENSP00000353720.4 |
mane_status | MANE Select |
chr | chr16 |
start | 55802851 |
end | 55833096 |
strand | - |
ver | v1.2 |
region | chr16:55802851-55833096 |
region5000 | chr16:55797851-55838096 |
regionname0 | CES1_chr16_55802851_55833096 |
regionname5000 | CES1_chr16_55797851_55838096 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 568 | 59 | 8 | 11 | 26 | 3 | 10 | 19 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0002 | 0/0 | 568 | 15 | 1 | 1 | 10 | 0 | 3 | 4 | CES1_chr16_55797851_55838096 | CES1 | MWLPA others(563): Show |
chr16 | 55797851 | 55838096 |
a0003 | 0/0 | 568 | 5 | 0 | 0 | 5 | 0 | 0 | 4 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0004 | 0/0 | 568 | 3 | 2 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0005 | 0/0 | 568 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0006 | 0/0 | 568 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0007 | 0/0 | 568 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
a0008 | 0/0 | 568 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | MWLRA others(563): Show |
chr16 | 55797851 | 55838096 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 1704 | 59 | 8 | 11 | 26 | 3 | 10 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0002c0002 | 0/0 | 1704 | 14 | 1 | 1 | 10 | 0 | 2 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0002c0006 | 0/0 | 1704 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0003c0003 | 0/0 | 1704 | 5 | 0 | 0 | 5 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0004c0004 | 0/0 | 1704 | 3 | 2 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0005c0005 | 0/0 | 1704 | 2 | 2 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0006c0008 | 0/0 | 1704 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0007c0009 | 0/0 | 1704 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 | ||
a0008c0007 | 0/0 | 1704 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ATGTG others(1699): Show |
chr16 | 55797851 | 55838096 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 1946 | 53 | 5 | 10 | 24 | 3 | 10 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0001c0001t0003 | 0/0 | 1946 | 3 | 2 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACGGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0001c0001t0004 | 0/0 | 1946 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0001c0001t0005 | 0/0 | 1946 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0001c0001t0006 | 0/0 | 1946 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACGGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0002c0002t0002 | 0/0 | 1946 | 14 | 1 | 1 | 10 | 0 | 2 | CES1_chr16_55797851_55838096 | CES1 | ACGGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0002c0006t0002 | 0/0 | 1946 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | ACGGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0003c0003t0001 | 0/0 | 1946 | 5 | 0 | 0 | 5 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0004c0004t0001 | 0/0 | 1946 | 3 | 2 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0005c0005t0001 | 0/0 | 1946 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0005c0005t0003 | 0/0 | 1946 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACGGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0006c0008t0001 | 0/0 | 1946 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0007c0009t0001 | 0/0 | 1946 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
a0008c0007t0001 | 0/0 | 1946 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | ACAGA others(1941): Show |
chr16 | 55797851 | 55838096 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0003g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0004g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0005g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0001c0001t0006g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0002c0006t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0003c0003t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0003c0003t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0003c0003t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0003c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0003c0003t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0004c0004t0001g0002 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0004c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0005c0005t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0005c0005t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0006c0008t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0007c0009t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
a0008c0007t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0001 | c0001 | t0001 | g0052 | EUR | FIN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0024 | EUR | FIN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00438 | hp1 | a0002 | c0002 | t0002 | g0066 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00597 | hp1 | a0002 | c0002 | t0002 | g0078 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | CHS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01070 | hp2 | a0002 | c0002 | t0002 | g0073 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0042 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01169 | hp2 | a0001 | c0001 | t0003 | g0081 | AMR | PUR | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0055 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | CLM | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01515 | hp1 | a0001 | c0001 | t0001 | g0054 | EUR | IBS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01515 | hp2 | a0004 | c0004 | t0001 | g0002 | EUR | IBS | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01891 | hp1 | a0006 | c0008 | t0001 | g0039 | AFR | ACB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | ACB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02015 | hp1 | a0003 | c0003 | t0001 | g0049 | EAS | KHV | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02015 | hp2 | a0001 | c0001 | t0005 | g0006 | EAS | KHV | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02129 | hp1 | a0002 | c0002 | t0002 | g0076 | EAS | KHV | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02129 | hp2 | a0002 | c0002 | t0002 | g0075 | EAS | KHV | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02155 | hp1 | a0002 | c0002 | t0002 | g0077 | EAS | CDX | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02155 | hp2 | a0002 | c0002 | t0002 | g0064 | EAS | CDX | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0037 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02735 | hp1 | a0002 | c0002 | t0002 | g0067 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0058 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02809 | hp1 | a0005 | c0005 | t0001 | g0010 | AFR | GWD | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG02809 | hp2 | a0001 | c0001 | t0006 | g0079 | AFR | GWD | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03098 | hp1 | a0002 | c0002 | t0002 | g0072 | AFR | MSL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03098 | hp2 | a0001 | c0001 | t0003 | g0083 | AFR | MSL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03195 | hp1 | a0004 | c0004 | t0001 | g0040 | AFR | ESN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03209 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | MSL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03209 | hp2 | a0004 | c0004 | t0001 | g0002 | AFR | MSL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03490 | hp2 | a0002 | c0006 | t0002 | g0068 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03516 | hp1 | a0005 | c0005 | t0003 | g0082 | AFR | ESN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03516 | hp2 | a0001 | c0001 | t0003 | g0080 | AFR | ESN | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0053 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03704 | hp2 | a0007 | c0009 | t0001 | g0048 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0043 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0038 | SAS | PJL | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | BEB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | BEB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0044 | SAS | STU | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG04115 | hp2 | a0002 | c0002 | t0002 | g0069 | SAS | STU | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | CHB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | CHB | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18940 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18943 | hp1 | a0002 | c0002 | t0002 | g0065 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18953 | hp2 | a0002 | c0002 | t0002 | g0071 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18969 | hp1 | a0003 | c0003 | t0001 | g0028 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA18999 | hp2 | a0002 | c0002 | t0002 | g0070 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19077 | hp2 | a0008 | c0007 | t0001 | g0062 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19085 | hp2 | a0003 | c0003 | t0001 | g0008 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19086 | hp1 | a0002 | c0002 | t0002 | g0074 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19086 | hp2 | a0003 | c0003 | t0001 | g0009 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19090 | hp1 | a0003 | c0003 | t0001 | g0033 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
NA19090 | hp2 | a0001 | c0001 | t0004 | g0005 | EAS | JPT | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | USA | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | USA | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0012 | REF | REF | CES1_chr16_55797851_55838096 | CES1 | chr16 | 55797851 | 55838096 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:55812986 | C | T | 1 | a0007 | 1 | HG03704.hp2 | missense_variant | MODERATE | c.1003G>A | p.Glu335Lys | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/14 | 1044/1946 | 1003/1707 | 335/568 | chr16 | 55812986 | |||
chr16:55819633 | C | A | 1 | a0006 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.808G>T | p.Ala270Ser | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/14 | 849/1946 | 808/1707 | 270/568 | chr16 | 55819633 | |||
chr16:55821449 | G | T | 1 | a0006 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.612C>A | p.Asp204Glu | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/14 | 653/1946 | 612/1707 | 204/568 | chr16 | 55821449 | |||
chr16:55821501 | C | G | 1 | a0004 | 3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
missense_variant | MODERATE | c.560G>C | p.Arg187Pro | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/14 | 601/1946 | 560/1707 | 187/568 | chr16 | 55821501 | |||
chr16:55823586 | G | C | 1 | a0005 | 2 | HG02809.hp1 HG03516.hp1 |
missense_variant | MODERATE | c.503C>G | p.Thr168Ser | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/14 | 544/1946 | 503/1707 | 168/568 | chr16 | 55823586 | |||
chr16:55828800 | C | T | 1 | a0008 | 1 | NA19077.hp2 | missense_variant | MODERATE | c.227G>A | p.Ser76Asn | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/14 | 268/1946 | 227/1707 | 76/568 | chr16 | 55828800 | |||
chr16:55828971 | C | A | 1 | a0003 | 5 | HG02015.hp1 NA18969.hp1 NA19085.hp2 others(2): Show |
missense_variant | MODERATE | c.56G>T | p.Gly19Val | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/14 | 97/1946 | 56/1707 | 19/568 | chr16 | 55828971 | |||
chr16:55833022 | A | C | 1 | a0002 | 15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
missense_variant | MODERATE | c.34T>G | p.Ser12Ala | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 75/1946 | 34/1707 | 12/568 | chr16 | 55833022 | |||
chr16:55833037 | T | C | 1 | a0002 | 15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
missense_variant | MODERATE | c.19A>G | p.Ile7Val | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 60/1946 | 19/1707 | 7/568 | chr16 | 55833037 | |||
chr16:55833040 | A | G | 1 | a0002 | 15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
missense_variant | MODERATE | c.16T>C | p.Phe6Leu | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 57/1946 | 16/1707 | 6/568 | chr16 | 55833040 | |||
chr16:55833045 | C | G | 1 | a0002 | 15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
missense_variant | MODERATE | c.11G>C | p.Arg4Pro | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 52/1946 | 11/1707 | 4/568 | chr16 | 55833045 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:55821413 | C | T | 1 | a0002c0006 | 1 | HG03490.hp2 | synonymous_variant | LOW | c.648G>A | p.Val216Val | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/14 | 689/1946 | 648/1707 | 216/568 | chr16 | 55821413 | |||
chr16:55833041 | G | A | 2 | a0002c0002 a0002c0006 |
15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
synonymous_variant | LOW | c.15C>T | p.Ala5Ala | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 56/1946 | 15/1707 | 5/568 | chr16 | 55833041 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:55802915 | T | C | 1 | a0001c0001t0006 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*134A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 14/14 | 134 | chr16 | 55802915 | ||||||
chr16:55833057 | G | C | 2 | a0002c0002t0002 a0002c0006t0002 |
15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
5_prime_UTR_variant | MODIFIER | c.-2C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 2 | chr16 | 55833057 | ||||||
chr16:55833075 | T | C | 2 | a0002c0002t0002 a0002c0006t0002 |
15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
5_prime_UTR_variant | MODIFIER | c.-20A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 20 | chr16 | 55833075 | ||||||
chr16:55833076 | C | G | 2 | a0002c0002t0002 a0002c0006t0002 |
15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
5_prime_UTR_variant | MODIFIER | c.-21G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 21 | chr16 | 55833076 | ||||||
chr16:55833085 | C | G | 1 | a0001c0001t0005 | 1 | HG02015.hp2 | 5_prime_UTR_variant | MODIFIER | c.-30G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 30 | chr16 | 55833085 | ||||||
chr16:55833085 | C | T | 1 | a0001c0001t0004 | 1 | NA19090.hp2 | 5_prime_UTR_variant | MODIFIER | c.-30G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 30 | chr16 | 55833085 | ||||||
chr16:55833094 | T | C | 5 | a0001c0001t0003 a0001c0001t0006 a0002c0002t0002 others(2): Show |
20 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-39A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/14 | 39 | chr16 | 55833094 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:55803382 | C | T | 3 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0003g0080 |
3 | HG03209.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1523+147G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 13/13 | chr16 | 55803382 | |||||||
chr16:55803415 | T | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1523+114A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 13/13 | chr16 | 55803415 | |||||||
chr16:55803492 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1523+37G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 13/13 | chr16 | 55803492 | |||||||
chr16:55803999 | G | A | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1451-398C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55803999 | |||||||
chr16:55804002 | G | C | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.1451-401C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804002 | |||||||
chr16:55804022 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1451-421G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804022 | |||||||
chr16:55804118 | G | A | 3 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 |
3 | NA18612.hp2 NA18953.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.1451-517C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804118 | |||||||
chr16:55804268 | C | G | 1 | a0001c0001t0001g0003 | 2 | NA19002.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.1451-667G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804268 | |||||||
chr16:55804390 | C | A | 3 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0003g0080 |
3 | HG03209.hp1 HG03516.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1451-789G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804390 | |||||||
chr16:55804753 | G | A | 4 | a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0003g0080 others(1): Show |
4 | HG00597.hp2 HG01891.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1451-1152C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804753 | |||||||
chr16:55804929 | T | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1451-1328A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804929 | |||||||
chr16:55804963 | A | G | 1 | a0001c0001t0001g0046 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1451-1362T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804963 | |||||||
chr16:55804965 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1451-1364C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55804965 | |||||||
chr16:55805025 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1450+1308C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805025 | |||||||
chr16:55805102 | A | T | 3 | a0001c0001t0003g0083 a0005c0005t0001g0010 a0005c0005t0003g0082 |
3 | HG02809.hp1 HG03098.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1450+1231T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805102 | |||||||
chr16:55805102 | AAT | A | 5 | a0001c0001t0001g0007 a0001c0001t0003g0080 a0004c0004t0001g0002 others(2): Show |
6 | HG01515.hp2 HG01891.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1450+1229_1450+123 others(6): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805102 | |||||||
chr16:55805103 | AT | A | 7 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 others(4): Show |
7 | HG00438.hp2 HG01169.hp2 NA18940.hp2 others(4): Show |
intron_variant | MODIFIER | c.1450+1229delA | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805103 | |||||||
chr16:55805104 | T | A | 42 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(39): Show |
43 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(40): Show |
intron_variant | MODIFIER | c.1450+1229A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805104 | |||||||
chr16:55805213 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1450+1120G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805213 | |||||||
chr16:55805214 | G | A | 1 | a0002c0002t0002g0070 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1450+1119C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805214 | |||||||
chr16:55805259 | A | C | 7 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 others(4): Show |
7 | HG00438.hp2 NA18940.hp2 NA18951.hp1 others(4): Show |
intron_variant | MODIFIER | c.1450+1074T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805259 | |||||||
chr16:55805277 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1450+1056A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805277 | |||||||
chr16:55805346 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1450+987G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805346 | |||||||
chr16:55805350 | G | A | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1450+983C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805350 | |||||||
chr16:55805475 | G | A | 62 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(59): Show |
64 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.1450+858C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805475 | |||||||
chr16:55805511 | A | G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0044 |
2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.1450+822T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805511 | |||||||
chr16:55805565 | C | T | 1 | a0001c0001t0001g0003 | 2 | NA19002.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.1450+768G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55805565 | |||||||
chr16:55806016 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1450+317T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55806016 | |||||||
chr16:55806200 | C | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1450+133G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 12/13 | chr16 | 55806200 | |||||||
chr16:55806600 | C | T | 76 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(73): Show |
79 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.1319-136G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55806600 | |||||||
chr16:55806633 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1319-169G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55806633 | |||||||
chr16:55806634 | G | A | 1 | a0001c0001t0001g0036 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1319-170C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55806634 | |||||||
chr16:55807126 | A | G | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1319-662T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55807126 | |||||||
chr16:55807276 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1319-812C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55807276 | |||||||
chr16:55807661 | C | CT | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1319-1198dupA | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55807661 | |||||||
chr16:55807786 | T | C | 8 | a0001c0001t0001g0016 a0001c0001t0006g0079 a0002c0002t0002g0064 others(5): Show |
8 | HG00438.hp1 HG01256.hp2 HG02155.hp2 others(5): Show |
intron_variant | MODIFIER | c.1319-1322A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55807786 | |||||||
chr16:55807871 | C | G | 2 | a0002c0002t0002g0064 a0002c0002t0002g0066 |
2 | HG00438.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.1319-1407G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55807871 | |||||||
chr16:55808204 | A | G | 38 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(35): Show |
39 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.1319-1740T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808204 | |||||||
chr16:55808314 | TCACAA | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1319-1855_1319-185 others(9): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808314 | |||||||
chr16:55808326 | T | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1319-1862A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808326 | |||||||
chr16:55808457 | G | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1319-1993C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808457 | |||||||
chr16:55808492 | T | G | 37 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(34): Show |
38 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(35): Show |
intron_variant | MODIFIER | c.1318+2025A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808492 | |||||||
chr16:55808496 | T | C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
44 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(41): Show |
intron_variant | MODIFIER | c.1318+2021A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808496 | |||||||
chr16:55808729 | A | C | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.1318+1788T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808729 | |||||||
chr16:55808903 | A | G | 1 | a0001c0001t0001g0029 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1318+1614T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55808903 | |||||||
chr16:55809009 | T | G | 1 | a0001c0001t0003g0081 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1318+1508A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809009 | |||||||
chr16:55809093 | C | CAAA | 4 | a0001c0001t0006g0079 a0004c0004t0001g0002 a0004c0004t0001g0040 others(1): Show |
5 | HG01515.hp2 HG01891.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.1318+1421_1318+142 others(7): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809093 | C | CAAAA | 14 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 others(11): Show |
14 | HG00438.hp1 HG00597.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.1318+1420_1318+142 others(8): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809093 | C | CAAAAA | 4 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0002c0002t0002g0071 others(1): Show |
4 | NA18951.hp1 NA18953.hp2 NA19011.hp2 others(1): Show |
intron_variant | MODIFIER | c.1318+1419_1318+142 others(9): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809093 | C | CAAAAAAA others(2): Show |
5 | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0003g0083 others(2): Show |
5 | HG01070.hp2 HG01891.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1318+1415_1318+142 others(13): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809093 | C | CAAAAAAA others(3): Show |
22 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0026 others(19): Show |
23 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(20): Show |
intron_variant | MODIFIER | c.1318+1414_1318+142 others(14): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809093 | C | CAAAAAAA others(4): Show |
10 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0035 others(7): Show |
10 | HG00408.hp1 HG01361.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1318+1413_1318+142 others(15): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809093 | |||||||
chr16:55809206 | T | A | 45 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(42): Show |
47 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.1318+1311A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809206 | |||||||
chr16:55809340 | G | C | 8 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show |
8 | HG00438.hp2 HG03516.hp2 NA18940.hp2 others(5): Show |
intron_variant | MODIFIER | c.1318+1177C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809340 | |||||||
chr16:55809372 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1318+1145G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809372 | |||||||
chr16:55809424 | G | A | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1318+1093C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809424 | |||||||
chr16:55809596 | G | A | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1318+921C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809596 | |||||||
chr16:55809643 | G | A | 1 | a0002c0002t0002g0070 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1318+874C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809643 | |||||||
chr16:55809772 | A | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1318+745T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809772 | |||||||
chr16:55809820 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1318+697T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809820 | |||||||
chr16:55809834 | T | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1318+683A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809834 | |||||||
chr16:55809915 | A | G | 1 | a0002c0002t0002g0072 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1318+602T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55809915 | |||||||
chr16:55810073 | C | T | 3 | a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0059 |
3 | HG01361.hp1 HG01433.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.1318+444G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55810073 | |||||||
chr16:55810160 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1318+357G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55810160 | |||||||
chr16:55810170 | T | C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1318+347A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | 55810170 | |||||||
chr16:55810697 | G | T | 47 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(44): Show |
49 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(46): Show |
intron_variant | MODIFIER | c.1171-33C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 10/13 | chr16 | 55810697 | |||||||
chr16:55810705 | G | A | 37 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(34): Show |
38 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(35): Show |
intron_variant | MODIFIER | c.1171-41C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 10/13 | chr16 | 55810705 | |||||||
chr16:55810764 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1171-100C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 10/13 | chr16 | 55810764 | |||||||
chr16:55810828 | G | A | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1170+99C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 10/13 | chr16 | 55810828 | |||||||
chr16:55810860 | T | C | 1 | a0002c0002t0002g0067 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1170+67A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 10/13 | chr16 | 55810860 | |||||||
chr16:55811012 | T | TA | 18 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(15): Show |
18 | HG00438.hp1 HG00438.hp2 HG01256.hp2 others(15): Show |
splice_region_variant&intron_variant | LOW | c.1087-3dupT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811012 | |||||||
chr16:55811014 | A | AC | 38 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(35): Show |
40 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(37): Show |
splice_region_variant&intron_variant | LOW | c.1087-5_1087-4insG | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811014 | |||||||
chr16:55811015 | A | C | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.1087-5T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811015 | |||||||
chr16:55811172 | T | TG | 41 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(38): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.1087-163dupC | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811172 | |||||||
chr16:55811210 | C | CA | 52 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(49): Show |
54 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(51): Show |
intron_variant | MODIFIER | c.1087-201dupT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811210 | |||||||
chr16:55811283 | T | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1087-273A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811283 | |||||||
chr16:55811439 | A | G | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1087-429T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811439 | |||||||
chr16:55811450 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1087-440G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811450 | |||||||
chr16:55811541 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1087-531G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811541 | |||||||
chr16:55811758 | CCCTTTGG others(4): Show |
C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1087-759_1087-749d others(13): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55811758 | |||||||
chr16:55812030 | G | A | 1 | a0002c0002t0002g0070 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1086+873C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812030 | |||||||
chr16:55812198 | A | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1086+705T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812198 | |||||||
chr16:55812291 | G | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1086+612C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812291 | |||||||
chr16:55812376 | C | T | 1 | a0001c0001t0001g0037 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1086+527G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812376 | |||||||
chr16:55812394 | A | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1086+509T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812394 | |||||||
chr16:55812413 | G | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1086+490C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812413 | |||||||
chr16:55812654 | C | G | 1 | a0001c0001t0001g0003 | 2 | NA19002.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.1086+249G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812654 | |||||||
chr16:55812729 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1086+174G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812729 | |||||||
chr16:55812754 | A | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1086+149T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812754 | |||||||
chr16:55812777 | T | C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1086+126A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812777 | |||||||
chr16:55812849 | C | T | 5 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show |
5 | HG00280.hp1 HG01256.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.1086+54G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 9/13 | chr16 | 55812849 | |||||||
chr16:55813133 | A | G | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.946-90T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813133 | |||||||
chr16:55813139 | C | T | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.946-96G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813139 | |||||||
chr16:55813315 | A | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.946-272T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813315 | |||||||
chr16:55813337 | T | C | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.946-294A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813337 | |||||||
chr16:55813361 | A | G | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.946-318T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813361 | |||||||
chr16:55813757 | G | A | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.946-714C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813757 | |||||||
chr16:55813769 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.946-726G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813769 | |||||||
chr16:55813906 | C | T | 1 | a0002c0002t0002g0072 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.946-863G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813906 | |||||||
chr16:55813909 | A | C | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.946-866T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55813909 | |||||||
chr16:55814015 | A | C | 1 | a0001c0001t0001g0035 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.946-972T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814015 | |||||||
chr16:55814056 | G | GTTTATAA others(5): Show |
9 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(6): Show |
9 | HG00438.hp2 HG03516.hp2 NA18940.hp2 others(6): Show |
intron_variant | MODIFIER | c.946-1014_946-1013i others(14): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814056 | |||||||
chr16:55814213 | A | G | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.946-1170T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814213 | |||||||
chr16:55814259 | C | T | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.946-1216G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814259 | |||||||
chr16:55814306 | A | G | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.946-1263T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814306 | |||||||
chr16:55814356 | A | G | 1 | a0002c0002t0002g0069 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.946-1313T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814356 | |||||||
chr16:55814384 | C | A | 45 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(42): Show |
47 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.946-1341G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814384 | |||||||
chr16:55814938 | C | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.946-1895G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55814938 | |||||||
chr16:55815092 | G | A | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.945+1832C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815092 | |||||||
chr16:55815161 | T | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+1763A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815161 | |||||||
chr16:55815512 | T | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+1412A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815512 | |||||||
chr16:55815520 | G | A | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.945+1404C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815520 | |||||||
chr16:55815530 | G | T | 2 | a0001c0001t0001g0020 a0001c0001t0001g0025 |
2 | NA18953.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.945+1394C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815530 | |||||||
chr16:55815548 | C | T | 1 | a0001c0001t0001g0001 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.945+1376G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815548 | |||||||
chr16:55815590 | G | C | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+1334C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815590 | |||||||
chr16:55815667 | C | A | 1 | a0001c0001t0001g0037 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.945+1257G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815667 | |||||||
chr16:55815708 | A | AGCCCTT | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.945+1210_945+1215d others(8): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815708 | |||||||
chr16:55815725 | T | C | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.945+1199A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815725 | |||||||
chr16:55815905 | C | A | 3 | a0001c0001t0003g0083 a0005c0005t0001g0010 a0005c0005t0003g0082 |
3 | HG02809.hp1 HG03098.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.945+1019G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815905 | |||||||
chr16:55815985 | C | A | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.945+939G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55815985 | |||||||
chr16:55816137 | C | A | 1 | a0002c0002t0002g0069 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.945+787G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816137 | |||||||
chr16:55816149 | T | C | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+775A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816149 | |||||||
chr16:55816150 | C | A | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+774G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816150 | |||||||
chr16:55816214 | G | T | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+710C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816214 | |||||||
chr16:55816224 | T | A | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.945+700A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816224 | |||||||
chr16:55816242 | T | C | 42 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(39): Show |
44 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(41): Show |
intron_variant | MODIFIER | c.945+682A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816242 | |||||||
chr16:55816336 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+588G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816336 | |||||||
chr16:55816347 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.945+577G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816347 | |||||||
chr16:55816444 | A | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+480T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816444 | |||||||
chr16:55816524 | A | G | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+400T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816524 | |||||||
chr16:55816605 | G | A | 1 | a0002c0002t0002g0074 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.945+319C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816605 | |||||||
chr16:55816612 | T | G | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.945+312A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816612 | |||||||
chr16:55816654 | G | A | 41 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(38): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.945+270C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816654 | |||||||
chr16:55816663 | A | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+261T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816663 | |||||||
chr16:55816796 | T | G | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.945+128A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816796 | |||||||
chr16:55816819 | G | A | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.945+105C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 8/13 | chr16 | 55816819 | |||||||
chr16:55817055 | C | T | 2 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | NA18999.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.907-93G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817055 | |||||||
chr16:55817082 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.907-120T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817082 | |||||||
chr16:55817275 | G | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.907-313C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817275 | |||||||
chr16:55817278 | T | G | 5 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show |
5 | HG00438.hp2 NA18940.hp2 NA18951.hp1 others(2): Show |
intron_variant | MODIFIER | c.907-316A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817278 | |||||||
chr16:55817384 | G | C | 5 | a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0028 others(2): Show |
5 | HG02015.hp1 NA18969.hp1 NA19085.hp2 others(2): Show |
intron_variant | MODIFIER | c.907-422C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817384 | |||||||
chr16:55817582 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.907-620G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817582 | |||||||
chr16:55817744 | CTCTGTGT others(5): Show |
C | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.907-794_907-783del others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55817744 | |||||||
chr16:55818090 | A | G | 64 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(61): Show |
66 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.907-1128T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818090 | |||||||
chr16:55818117 | T | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.907-1155A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818117 | |||||||
chr16:55818207 | G | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.907-1245C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818207 | |||||||
chr16:55818264 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.906+1271G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818264 | |||||||
chr16:55818306 | G | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.906+1229C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818306 | |||||||
chr16:55818514 | G | C | 1 | a0001c0001t0001g0036 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.906+1021C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818514 | |||||||
chr16:55818772 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.906+763T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818772 | |||||||
chr16:55818854 | T | C | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.906+681A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55818854 | |||||||
chr16:55819047 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.906+488C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819047 | |||||||
chr16:55819055 | G | GAATGGGT others(3): Show |
1 | a0002c0002t0002g0065 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.906+470_906+479dup others(10): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819055 | |||||||
chr16:55819147 | A | G | 62 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(59): Show |
64 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.906+388T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819147 | |||||||
chr16:55819406 | G | T | 42 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(39): Show |
43 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(40): Show |
intron_variant | MODIFIER | c.906+129C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819406 | |||||||
chr16:55819467 | G | C | 3 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 |
3 | NA18940.hp2 NA18951.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.906+68C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819467 | |||||||
chr16:55819534 | C | A | 4 | a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0069 others(1): Show |
4 | HG00438.hp1 HG02155.hp2 HG04115.hp2 others(1): Show |
splice_donor_variant&intron_variant | HIGH | c.906+1G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 7/13 | chr16 | 55819534 | |||||||
chr16:55819930 | G | C | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.802-291C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 6/13 | chr16 | 55819930 | |||||||
chr16:55820500 | A | T | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.694-21T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820500 | |||||||
chr16:55820540 | G | A | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.694-61C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820540 | |||||||
chr16:55820543 | A | C | 44 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(43): Show |
intron_variant | MODIFIER | c.694-64T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820543 | |||||||
chr16:55820602 | G | A | 43 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show |
45 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.694-123C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820602 | |||||||
chr16:55820782 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.694-303G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820782 | |||||||
chr16:55820871 | A | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.694-392T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55820871 | |||||||
chr16:55821050 | A | C | 7 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show |
7 | HG00438.hp2 HG03516.hp2 NA18940.hp2 others(4): Show |
intron_variant | MODIFIER | c.693+318T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821050 | |||||||
chr16:55821059 | T | G | 45 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(42): Show |
47 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.693+309A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821059 | |||||||
chr16:55821063 | GGAGAGAG others(5): Show |
G | 3 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0002c0002t0002g0065 |
3 | NA18943.hp1 NA19082.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.693+293_693+304del others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821063 | |||||||
chr16:55821074 | A | AAGAG | 40 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(37): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.693+290_693+293dup others(4): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821074 | |||||||
chr16:55821074 | A | AAGAGAG | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.693+288_693+293dup others(6): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821074 | |||||||
chr16:55821156 | C | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.693+212G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821156 | |||||||
chr16:55821238 | TG | T | 28 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0024 others(25): Show |
29 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(26): Show |
intron_variant | MODIFIER | c.693+129delC | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821238 | |||||||
chr16:55821336 | G | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.693+32C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 5/13 | chr16 | 55821336 | |||||||
chr16:55821740 | C | T | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.540-219G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55821740 | |||||||
chr16:55821888 | C | T | 1 | a0002c0002t0002g0076 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.540-367G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55821888 | |||||||
chr16:55821955 | T | C | 45 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(42): Show |
47 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.540-434A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55821955 | |||||||
chr16:55822106 | T | C | 41 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(38): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.540-585A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822106 | |||||||
chr16:55822303 | A | T | 5 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show |
5 | HG00438.hp2 NA18940.hp2 NA18951.hp1 others(2): Show |
intron_variant | MODIFIER | c.540-782T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822303 | |||||||
chr16:55822608 | G | T | 43 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(40): Show |
44 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(41): Show |
intron_variant | MODIFIER | c.539+942C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822608 | |||||||
chr16:55822805 | A | G | 54 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(51): Show |
56 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.539+745T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822805 | |||||||
chr16:55822930 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.539+620T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822930 | |||||||
chr16:55822939 | G | A | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.539+611C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822939 | |||||||
chr16:55822945 | AAGG | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.539+602_539+604del others(3): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55822945 | |||||||
chr16:55823168 | G | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.539+382C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823168 | |||||||
chr16:55823203 | A | C | 46 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(43): Show |
48 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(45): Show |
intron_variant | MODIFIER | c.539+347T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823203 | |||||||
chr16:55823305 | A | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.539+245T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823305 | |||||||
chr16:55823423 | C | T | 47 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(44): Show |
49 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(46): Show |
intron_variant | MODIFIER | c.539+127G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823423 | |||||||
chr16:55823484 | A | C | 21 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(18): Show |
22 | HG00438.hp1 HG00438.hp2 HG01256.hp2 others(19): Show |
intron_variant | MODIFIER | c.539+66T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823484 | |||||||
chr16:55823540 | G | A | 4 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0005g0006 others(1): Show |
4 | HG01891.hp1 HG02015.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.539+10C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823540 | |||||||
chr16:55823540 | G | C | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.539+10C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | 55823540 | |||||||
chr16:55823758 | G | T | 1 | a0001c0001t0001g0046 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.406-75C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55823758 | |||||||
chr16:55823759 | A | G | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.406-76T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55823759 | |||||||
chr16:55823821 | T | C | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.406-138A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55823821 | |||||||
chr16:55823935 | C | G | 1 | a0001c0001t0003g0080 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.406-252G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55823935 | |||||||
chr16:55823963 | C | A | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.406-280G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55823963 | |||||||
chr16:55824016 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.406-333G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55824016 | |||||||
chr16:55824029 | A | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.406-346T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55824029 | |||||||
chr16:55824452 | C | T | 1 | a0003c0003t0001g0009 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.406-769G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55824452 | |||||||
chr16:55824516 | A | G | 4 | a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0069 others(1): Show |
4 | HG00438.hp1 HG02155.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.406-833T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55824516 | |||||||
chr16:55824530 | A | C | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.406-847T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55824530 | |||||||
chr16:55825175 | A | AGAAT | 5 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0006g0079 others(2): Show |
6 | HG01070.hp1 HG01071.hp2 HG01256.hp2 others(3): Show |
intron_variant | MODIFIER | c.405+972_405+975dup others(4): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825175 | |||||||
chr16:55825175 | AGAAT | A | 41 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(38): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.405+972_405+975del others(4): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825175 | |||||||
chr16:55825175 | AGAATGAA others(1): Show |
A | 14 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 others(11): Show |
15 | HG00438.hp2 HG01515.hp2 HG02015.hp2 others(12): Show |
intron_variant | MODIFIER | c.405+968_405+975del others(8): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825175 | |||||||
chr16:55825175 | AGAATGAA others(5): Show |
A | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.405+964_405+975del others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825175 | |||||||
chr16:55825175 | AGAATGAA others(9): Show |
A | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.405+960_405+975del others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825175 | |||||||
chr16:55825187 | T | C | 11 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 others(8): Show |
11 | HG00438.hp2 HG03209.hp1 HG03516.hp2 others(8): Show |
intron_variant | MODIFIER | c.405+964A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825187 | |||||||
chr16:55825280 | C | A | 11 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 others(8): Show |
11 | HG00438.hp2 HG03209.hp1 HG03516.hp2 others(8): Show |
intron_variant | MODIFIER | c.405+871G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825280 | |||||||
chr16:55825402 | C | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.405+749G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825402 | |||||||
chr16:55825432 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.405+719G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825432 | |||||||
chr16:55825570 | C | T | 1 | a0005c0005t0001g0010 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.405+581G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825570 | |||||||
chr16:55825888 | T | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.405+263A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55825888 | |||||||
chr16:55826104 | G | A | 1 | a0003c0003t0001g0009 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.405+47C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 3/13 | chr16 | 55826104 | |||||||
chr16:55826356 | C | T | 1 | a0002c0002t0002g0064 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.261-61G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826356 | |||||||
chr16:55826581 | C | A | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.261-286G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826581 | |||||||
chr16:55826686 | G | C | 1 | a0001c0001t0001g0060 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.261-391C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826686 | |||||||
chr16:55826766 | C | T | 4 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0036 others(1): Show |
4 | HG00597.hp2 NA18612.hp2 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.261-471G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826766 | |||||||
chr16:55826848 | G | C | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.261-553C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826848 | |||||||
chr16:55826863 | G | A | 1 | a0008c0007t0001g0062 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.261-568C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826863 | |||||||
chr16:55826883 | T | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.261-588A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55826883 | |||||||
chr16:55827103 | C | T | 3 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0006c0008t0001g0039 |
3 | HG01891.hp1 HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.261-808G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827103 | |||||||
chr16:55827277 | C | CAAT | 15 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(12): Show |
15 | HG00438.hp1 HG00438.hp2 HG00597.hp2 others(12): Show |
intron_variant | MODIFIER | c.261-985_261-983dup others(3): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827277 | |||||||
chr16:55827277 | C | CAATAAT | 4 | a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0044 others(1): Show |
4 | HG02015.hp2 HG03834.hp2 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.261-988_261-983dup others(6): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827277 | |||||||
chr16:55827277 | C | CAATAATA others(2): Show |
30 | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0027 others(27): Show |
31 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(28): Show |
intron_variant | MODIFIER | c.261-991_261-983dup others(9): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827277 | |||||||
chr16:55827277 | C | CAATAATA others(5): Show |
8 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0043 others(5): Show |
9 | HG00280.hp2 HG01070.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.261-994_261-983dup others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827277 | |||||||
chr16:55827669 | G | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.260+1098C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827669 | |||||||
chr16:55827882 | A | G | 38 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(35): Show |
39 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.260+885T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55827882 | |||||||
chr16:55828215 | G | T | 38 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(35): Show |
39 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.260+552C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828215 | |||||||
chr16:55828365 | T | A | 8 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(5): Show |
8 | HG00438.hp2 HG03516.hp2 NA18940.hp2 others(5): Show |
intron_variant | MODIFIER | c.260+402A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828365 | |||||||
chr16:55828459 | G | A | 3 | a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0060 |
3 | HG00408.hp2 NA18943.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.260+308C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828459 | |||||||
chr16:55828507 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+260G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828507 | |||||||
chr16:55828514 | G | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+253C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828514 | |||||||
chr16:55828566 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+201G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828566 | |||||||
chr16:55828580 | C | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+187G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828580 | |||||||
chr16:55828642 | T | C | 1 | a0001c0001t0001g0001 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.260+125A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828642 | |||||||
chr16:55828659 | A | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+108T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828659 | |||||||
chr16:55828671 | G | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+96C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828671 | |||||||
chr16:55828678 | G | T | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+89C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828678 | |||||||
chr16:55828693 | G | A | 63 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(60): Show |
65 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.260+74C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828693 | |||||||
chr16:55828735 | A | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.260+32T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2/13 | chr16 | 55828735 | |||||||
chr16:55828989 | T | G | 5 | a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0028 others(2): Show |
5 | HG02015.hp1 NA18969.hp1 NA19085.hp2 others(2): Show |
intron_variant | MODIFIER | c.53-15A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55828989 | |||||||
chr16:55829175 | T | C | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.53-201A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829175 | |||||||
chr16:55829511 | C | T | 1 | a0001c0001t0003g0081 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.53-537G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829511 | |||||||
chr16:55829557 | C | T | 4 | a0001c0001t0001g0027 a0001c0001t0004g0005 a0002c0002t0002g0075 others(1): Show |
4 | HG02129.hp1 HG02129.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.53-583G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829557 | |||||||
chr16:55829687 | A | G | 1 | a0001c0001t0001g0013 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.53-713T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829687 | |||||||
chr16:55829766 | C | G | 1 | a0001c0001t0001g0029 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.53-792G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829766 | |||||||
chr16:55829786 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.53-812C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829786 | |||||||
chr16:55829834 | G | T | 3 | a0005c0005t0001g0010 a0005c0005t0003g0082 a0006c0008t0001g0039 |
3 | HG01891.hp1 HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.53-860C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829834 | |||||||
chr16:55829841 | G | A | 3 | a0005c0005t0001g0010 a0005c0005t0003g0082 a0006c0008t0001g0039 |
3 | HG01891.hp1 HG02809.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.53-867C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829841 | |||||||
chr16:55829880 | A | G | 1 | a0006c0008t0001g0039 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.53-906T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55829880 | |||||||
chr16:55830090 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.53-1116G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830090 | |||||||
chr16:55830301 | A | C | 46 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(43): Show |
47 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
intron_variant | MODIFIER | c.53-1327T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830301 | |||||||
chr16:55830355 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.53-1381G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830355 | |||||||
chr16:55830540 | C | A | 1 | a0008c0007t0001g0062 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.53-1566G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830540 | |||||||
chr16:55830569 | A | G | 1 | a0008c0007t0001g0062 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.53-1595T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830569 | |||||||
chr16:55830605 | C | T | 33 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(30): Show |
34 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(31): Show |
intron_variant | MODIFIER | c.53-1631G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830605 | |||||||
chr16:55830648 | G | C | 40 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(37): Show |
42 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.53-1674C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830648 | |||||||
chr16:55830675 | T | A | 15 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(12): Show |
15 | HG00438.hp1 HG00438.hp2 HG01256.hp2 others(12): Show |
intron_variant | MODIFIER | c.53-1701A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830675 | |||||||
chr16:55830773 | A | AGAAG | 15 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0027 others(12): Show |
15 | HG01070.hp2 HG01433.hp2 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.53-1803_53-1800dup others(4): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(1): Show |
10 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0024 others(7): Show |
11 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(8): Show |
intron_variant | MODIFIER | c.53-1807_53-1800dup others(8): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(5): Show |
11 | a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0042 others(8): Show |
11 | HG01071.hp1 HG01169.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.53-1811_53-1800dup others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(9): Show |
3 | a0001c0001t0001g0051 a0001c0001t0001g0058 a0007c0009t0001g0048 |
3 | HG02698.hp1 HG02735.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.53-1815_53-1800dup others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(13): Show |
1 | a0001c0001t0001g0035 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.53-1819_53-1800dup others(20): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(17): Show |
1 | a0005c0005t0003g0082 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.53-1823_53-1800dup others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830773 | A | AGAAGGAA others(45): Show |
1 | a0008c0007t0001g0062 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.53-1800_53-1799ins others(52): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830773 | |||||||
chr16:55830781 | G | GGAAGGAA others(49): Show |
2 | a0001c0001t0001g0036 a0001c0001t0001g0041 |
2 | HG00597.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.53-1808_53-1807ins others(56): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830781 | |||||||
chr16:55830781 | G | GGAAGGAA others(45): Show |
2 | a0001c0001t0001g0020 a0001c0001t0001g0025 |
2 | NA18953.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.53-1808_53-1807ins others(52): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830781 | |||||||
chr16:55830803 | A | AAGGAAGG others(13): Show |
1 | a0004c0004t0001g0002 | 2 | HG01515.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.53-1830_53-1829ins others(20): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830803 | |||||||
chr16:55830803 | A | AAGGAAGG others(9): Show |
1 | a0004c0004t0001g0040 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.53-1830_53-1829ins others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830803 | |||||||
chr16:55830803 | A | G | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.53-1829T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830803 | |||||||
chr16:55830815 | A | AAGGCAGG others(9): Show |
1 | a0002c0002t0002g0071 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.53-1842_53-1841ins others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830815 | |||||||
chr16:55830819 | A | AAGGAAGG others(17): Show |
1 | a0002c0002t0002g0072 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.53-1846_53-1845ins others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(9): Show |
1 | a0001c0001t0001g0050 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.53-1846_53-1845ins others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(13): Show |
1 | a0001c0001t0001g0029 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.53-1846_53-1845ins others(20): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(5): Show |
1 | a0001c0001t0001g0055 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.53-1846_53-1845ins others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(9): Show |
2 | a0001c0001t0001g0016 a0002c0006t0002g0068 |
2 | HG01256.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.53-1846_53-1845ins others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(29): Show |
1 | a0001c0001t0003g0081 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.53-1846_53-1845ins others(36): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(5): Show |
2 | a0002c0002t0002g0066 a0006c0008t0001g0039 |
2 | HG00438.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.53-1846_53-1845ins others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGAAGG others(9): Show |
2 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | NA18999.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.53-1846_53-1845ins others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGCAGG others(1): Show |
3 | a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 |
3 | HG02155.hp2 HG04115.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.53-1853_53-1846dup others(8): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGCAGG others(5): Show |
1 | a0001c0001t0003g0080 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.53-1857_53-1846dup others(12): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | AAGGCAGG others(9): Show |
4 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(1): Show |
4 | HG00438.hp2 NA18940.hp2 NA18951.hp1 others(1): Show |
intron_variant | MODIFIER | c.53-1861_53-1846dup others(16): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830819 | A | C | 2 | a0001c0001t0001g0007 a0002c0002t0002g0071 |
2 | HG06807.hp2 NA18953.hp2 |
intron_variant | MODIFIER | c.53-1845T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830819 | |||||||
chr16:55830823 | C | A | 28 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(25): Show |
30 | HG00280.hp1 HG00408.hp1 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.53-1849G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830823 | |||||||
chr16:55830827 | C | A | 1 | a0001c0001t0001g0031 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.53-1853G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55830827 | |||||||
chr16:55831115 | G | T | 3 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 |
3 | HG01891.hp2 HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.52+1889C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831115 | |||||||
chr16:55831190 | C | T | 2 | a0001c0001t0001g0013 a0002c0002t0002g0065 |
2 | HG01891.hp2 NA18943.hp1 |
intron_variant | MODIFIER | c.52+1814G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831190 | |||||||
chr16:55831201 | A | C | 1 | a0001c0001t0001g0011 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.52+1803T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831201 | |||||||
chr16:55831215 | A | G | 3 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 |
3 | HG01891.hp2 HG03209.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.52+1789T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831215 | |||||||
chr16:55831258 | C | G | 2 | a0004c0004t0001g0002 a0004c0004t0001g0040 |
3 | HG01515.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.52+1746G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831258 | |||||||
chr16:55831267 | G | A | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.52+1737C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831267 | |||||||
chr16:55831283 | G | T | 55 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(52): Show |
57 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(54): Show |
intron_variant | MODIFIER | c.52+1721C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831283 | |||||||
chr16:55831332 | C | T | 1 | a0003c0003t0001g0049 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.52+1672G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831332 | |||||||
chr16:55831347 | G | T | 19 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0020 others(16): Show |
21 | HG00280.hp1 HG00597.hp2 HG01071.hp1 others(18): Show |
intron_variant | MODIFIER | c.52+1657C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831347 | |||||||
chr16:55831350 | C | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.52+1654G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831350 | |||||||
chr16:55831488 | A | G | 19 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0019 others(16): Show |
19 | HG00280.hp2 HG00408.hp2 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.52+1516T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831488 | |||||||
chr16:55831528 | T | TG | 25 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(22): Show |
25 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(22): Show |
intron_variant | MODIFIER | c.52+1475_52+1476ins others(1): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831528 | |||||||
chr16:55831536 | T | C | 24 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(21): Show |
24 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(21): Show |
intron_variant | MODIFIER | c.52+1468A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831536 | |||||||
chr16:55831537 | A | C | 24 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(21): Show |
24 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(21): Show |
intron_variant | MODIFIER | c.52+1467T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831537 | |||||||
chr16:55831555 | G | A | 17 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(14): Show |
17 | HG00408.hp1 HG00408.hp2 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.52+1449C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831555 | |||||||
chr16:55831647 | G | C | 2 | a0001c0001t0003g0080 a0001c0001t0003g0081 |
2 | HG01169.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.52+1357C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831647 | |||||||
chr16:55831706 | T | TC | 35 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(32): Show |
35 | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(32): Show |
intron_variant | MODIFIER | c.52+1297dupG | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831706 | |||||||
chr16:55831736 | T | C | 39 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(36): Show |
40 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(37): Show |
intron_variant | MODIFIER | c.52+1268A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831736 | |||||||
chr16:55831738 | G | A | 37 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(34): Show |
38 | HG00280.hp1 HG00408.hp1 HG00597.hp2 others(35): Show |
intron_variant | MODIFIER | c.52+1266C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831738 | |||||||
chr16:55831820 | G | A | 17 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(14): Show |
17 | HG00408.hp1 HG01433.hp2 HG02155.hp2 others(14): Show |
intron_variant | MODIFIER | c.52+1184C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831820 | |||||||
chr16:55831835 | A | G | 1 | a0001c0001t0005g0006 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.52+1169T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831835 | |||||||
chr16:55831841 | G | A | 15 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0029 others(12): Show |
15 | HG00408.hp1 HG00438.hp2 HG01433.hp2 others(12): Show |
intron_variant | MODIFIER | c.52+1163C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831841 | |||||||
chr16:55831866 | C | T | 27 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(24): Show |
28 | HG00280.hp2 HG00597.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.52+1138G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831866 | |||||||
chr16:55831876 | C | A | 12 | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0058 others(9): Show |
13 | HG00280.hp2 HG01070.hp2 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.52+1128G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831876 | |||||||
chr16:55831893 | T | C | 10 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0059 others(7): Show |
10 | HG00438.hp1 HG01070.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.52+1111A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831893 | |||||||
chr16:55831937 | G | C | 15 | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0027 others(12): Show |
17 | HG00408.hp2 HG00597.hp1 HG01070.hp2 others(14): Show |
intron_variant | MODIFIER | c.52+1067C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831937 | |||||||
chr16:55831945 | C | T | 55 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 others(52): Show |
57 | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.52+1059G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831945 | |||||||
chr16:55831957 | T | C | 1 | a0001c0001t0001g0025 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.52+1047A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831957 | |||||||
chr16:55831961 | G | A | 5 | a0001c0001t0005g0006 a0002c0002t0002g0064 a0002c0002t0002g0069 others(2): Show |
5 | HG02015.hp2 HG02155.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.52+1043C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831961 | |||||||
chr16:55831962 | C | T | 11 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(8): Show |
12 | HG00408.hp2 HG01070.hp2 HG01515.hp2 others(9): Show |
intron_variant | MODIFIER | c.52+1042G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831962 | |||||||
chr16:55831978 | C | T | 2 | a0001c0001t0003g0080 a0001c0001t0003g0081 |
2 | HG01169.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.52+1026G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831978 | |||||||
chr16:55831997 | C | CTG | 54 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(51): Show |
57 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(54): Show |
intron_variant | MODIFIER | c.52+1006_52+1007ins others(2): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55831997 | |||||||
chr16:55832004 | C | T | 2 | a0002c0002t0002g0065 a0002c0002t0002g0066 |
2 | HG00438.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.52+1000G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832004 | |||||||
chr16:55832008 | G | C | 4 | a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 others(1): Show |
4 | HG02155.hp2 HG03490.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.52+996C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832008 | |||||||
chr16:55832016 | C | CA | 9 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(6): Show |
10 | HG01070.hp1 HG01071.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.52+987dupT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832016 | |||||||
chr16:55832018 | C | A | 3 | a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 |
3 | HG00438.hp1 HG02735.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.52+986G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832018 | |||||||
chr16:55832021 | C | T | 3 | a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 |
3 | HG00438.hp1 HG02735.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.52+983G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832021 | |||||||
chr16:55832022 | A | G | 13 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(10): Show |
14 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.52+982T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832022 | |||||||
chr16:55832033 | C | T | 3 | a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 |
3 | HG00438.hp1 HG02735.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.52+971G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832033 | |||||||
chr16:55832039 | T | C | 3 | a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 |
3 | HG00438.hp1 HG02735.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.52+965A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832039 | |||||||
chr16:55832051 | C | T | 16 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
17 | HG00280.hp2 HG01070.hp1 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.52+953G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832051 | |||||||
chr16:55832104 | G | A | 2 | a0001c0001t0001g0037 a0001c0001t0001g0038 |
2 | HG02698.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.52+900C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832104 | |||||||
chr16:55832134 | C | G | 1 | a0001c0001t0001g0013 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.52+870G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832134 | |||||||
chr16:55832155 | C | G | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.52+849G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832155 | |||||||
chr16:55832230 | C | A | 2 | a0001c0001t0001g0013 a0001c0001t0005g0006 |
2 | HG01891.hp2 HG02015.hp2 |
intron_variant | MODIFIER | c.52+774G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832230 | |||||||
chr16:55832267 | C | T | 1 | a0001c0001t0003g0083 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.52+737G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832267 | |||||||
chr16:55832283 | G | A | 3 | a0004c0004t0001g0002 a0004c0004t0001g0040 a0006c0008t0001g0039 |
4 | HG01515.hp2 HG01891.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.52+721C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832283 | |||||||
chr16:55832314 | T | C | 4 | a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 others(1): Show |
4 | HG00597.hp1 HG02129.hp1 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.52+690A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832314 | |||||||
chr16:55832370 | A | G | 4 | a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 others(1): Show |
4 | HG02155.hp2 HG03490.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.52+634T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832370 | |||||||
chr16:55832375 | A | G | 7 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show |
8 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.52+629T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832375 | |||||||
chr16:55832397 | G | A | 2 | a0002c0002t0002g0066 a0002c0002t0002g0067 |
2 | HG00438.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.52+607C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832397 | |||||||
chr16:55832397 | G | C | 1 | a0002c0002t0002g0065 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.52+607C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832397 | |||||||
chr16:55832415 | T | TAA | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+588_52+589insTT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832415 | |||||||
chr16:55832425 | T | C | 44 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(41): Show |
46 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(43): Show |
intron_variant | MODIFIER | c.52+579A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832425 | |||||||
chr16:55832435 | G | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+569C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832435 | |||||||
chr16:55832458 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+546C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832458 | |||||||
chr16:55832466 | T | C | 30 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(27): Show |
30 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(27): Show |
intron_variant | MODIFIER | c.52+538A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832466 | |||||||
chr16:55832479 | G | A | 10 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(7): Show |
11 | HG00438.hp1 HG01515.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.52+525C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832479 | |||||||
chr16:55832518 | C | T | 8 | a0001c0001t0003g0083 a0002c0002t0002g0064 a0002c0002t0002g0065 others(5): Show |
8 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.52+486G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832518 | |||||||
chr16:55832561 | G | A | 6 | a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 others(3): Show |
6 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.52+443C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832561 | |||||||
chr16:55832561 | G | T | 1 | a0002c0002t0002g0065 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.52+443C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832561 | |||||||
chr16:55832569 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+435C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832569 | |||||||
chr16:55832575 | C | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+429G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832575 | |||||||
chr16:55832581 | C | T | 1 | a0001c0001t0001g0007 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.52+423G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832581 | |||||||
chr16:55832586 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+418C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832586 | |||||||
chr16:55832626 | C | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+378G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832626 | |||||||
chr16:55832661 | A | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+343T>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832661 | |||||||
chr16:55832663 | G | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+341C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832663 | |||||||
chr16:55832664 | T | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+340A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832664 | |||||||
chr16:55832674 | C | A | 8 | a0001c0001t0003g0083 a0002c0002t0002g0064 a0002c0002t0002g0065 others(5): Show |
8 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.52+330G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832674 | |||||||
chr16:55832680 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+324C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832680 | |||||||
chr16:55832684 | C | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+320G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832684 | |||||||
chr16:55832689 | G | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+315C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832689 | |||||||
chr16:55832693 | G | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+311C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832693 | |||||||
chr16:55832699 | T | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+305A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832699 | |||||||
chr16:55832705 | A | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+299T>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832705 | |||||||
chr16:55832712 | G | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+292C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832712 | |||||||
chr16:55832713 | C | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+291G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832713 | |||||||
chr16:55832737 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+267C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832737 | |||||||
chr16:55832747 | C | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+257G>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832747 | |||||||
chr16:55832748 | C | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+256G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832748 | |||||||
chr16:55832760 | G | A | 4 | a0002c0002t0002g0064 a0002c0002t0002g0069 a0002c0002t0002g0070 others(1): Show |
4 | HG02155.hp2 HG03490.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.52+244C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832760 | |||||||
chr16:55832765 | T | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+239A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832765 | |||||||
chr16:55832772 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+232C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832772 | |||||||
chr16:55832773 | CA | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+230delT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832773 | |||||||
chr16:55832777 | T | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+227A>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832777 | |||||||
chr16:55832778 | G | C | 1 | a0001c0001t0003g0083 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.52+226C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832778 | |||||||
chr16:55832782 | G | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+222C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832782 | |||||||
chr16:55832789 | A | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+215T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832789 | |||||||
chr16:55832797 | A | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+207T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832797 | |||||||
chr16:55832804 | G | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+200C>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832804 | |||||||
chr16:55832821 | C | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+183G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832821 | |||||||
chr16:55832845 | C | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+159G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832845 | |||||||
chr16:55832869 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+135C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832869 | |||||||
chr16:55832873 | T | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+131A>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832873 | |||||||
chr16:55832875 | A | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+129T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832875 | |||||||
chr16:55832878 | T | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+126A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832878 | |||||||
chr16:55832882 | A | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+122T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832882 | |||||||
chr16:55832887 | T | C | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+117A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832887 | |||||||
chr16:55832896 | G | A | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+108C>T | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832896 | |||||||
chr16:55832898 | A | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+106T>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832898 | |||||||
chr16:55832910 | G | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+94C>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832910 | |||||||
chr16:55832917 | C | G | 1 | a0002c0002t0002g0064 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.52+87G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832917 | |||||||
chr16:55832944 | C | G | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+60G>C | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832944 | |||||||
chr16:55832945 | C | T | 7 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(4): Show |
7 | HG00438.hp1 HG02155.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.52+59G>A | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832945 | |||||||
chr16:55832982 | T | TA | 41 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0041 others(38): Show |
43 | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.52+21_52+22insT | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832982 | |||||||
chr16:55832988 | T | C | 15 | a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 others(12): Show |
15 | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(12): Show |
intron_variant | MODIFIER | c.52+16A>G | CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | 55832988 |