Item | Value |
---|---|
geneid | 408187 |
ensemblid | ENSG00000196800.7 |
hgncid | 33825 |
symbol | SPINK14 |
name | serine peptidase inhibitor Kazal type 14 (putative) |
refseq_nuc | NM_001001325.2 |
refseq_prot | NP_001001325.1 |
ensembl_nuc | ENST00000356972.2 |
ensembl_prot | ENSP00000349459.1 |
mane_status | MANE Select |
chr | chr5 |
start | 148168546 |
end | 148175619 |
strand | + |
ver | v1.2 |
region | chr5:148168546-148175619 |
region5000 | chr5:148163546-148180619 |
regionname0 | SPINK14_chr5_148168546_148175619 |
regionname5000 | SPINK14_chr5_148163546_148180619 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 291 | 103 | 10 | 14 | 72 | 0 | 6 | SPINK14_chr5_148163546_148180619 | SPINK14 | ATGGC others(286): Show |
chr5 | 148163546 | 148180619 | ||
a0001c0002 | 0/0 | 291 | 6 | 4 | 2 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | ATGGC others(286): Show |
chr5 | 148163546 | 148180619 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 609 | 101 | 8 | 14 | 72 | 0 | 6 | SPINK14_chr5_148163546_148180619 | SPINK14 | TTCCT others(604): Show |
chr5 | 148163546 | 148180619 |
a0001c0001t0002 | 0/0 | 609 | 1 | 1 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | TTCCT others(604): Show |
chr5 | 148163546 | 148180619 |
a0001c0001t0003 | 0/0 | 609 | 1 | 1 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | TTCCT others(604): Show |
chr5 | 148163546 | 148180619 |
a0001c0002t0001 | 0/0 | 609 | 6 | 4 | 2 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | TTCCT others(604): Show |
chr5 | 148163546 | 148180619 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 42 | 3 | 7 | 29 | 0 | 3 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0002 | 1/0 | 13 | 0 | 0 | 11 | 0 | 1 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0003 | 0/0 | 6 | 0 | 1 | 4 | 0 | 1 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0004 | 0/0 | 6 | 0 | 4 | 2 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0005 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0007 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0001t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0002t0001g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0002t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0002t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
a0001c0002t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00673 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG00673 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PUR | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01243 | hp1 | a0001 | c0002 | t0001 | g0013 | AMR | PUR | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01243 | hp2 | a0001 | c0002 | t0001 | g0014 | AMR | PUR | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | CLM | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | CLM | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02083 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02622 | hp1 | a0001 | c0001 | t0003 | g0031 | AFR | GWD | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0012 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02818 | hp1 | a0001 | c0002 | t0001 | g0009 | AFR | GWD | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ESN | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG03139 | hp1 | a0001 | c0002 | t0001 | g0009 | AFR | ESN | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG03139 | hp2 | a0001 | c0002 | t0001 | g0010 | AFR | ESN | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18947 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18957 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18985 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18989 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19012 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | LWK | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19030 | hp2 | a0001 | c0001 | t0002 | g0016 | AFR | LWK | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19057 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19059 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19059 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19072 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19083 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | YRI | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | YRI | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA20300 | hp1 | a0001 | c0002 | t0001 | g0010 | AFR | USA | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | USA | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0002 | REF | REF | SPINK14_chr5_148163546_148180619 | SPINK14 | chr5 | 148163546 | 148180619 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:148174266 | C | T | 1 | a0001c0002 | 6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
synonymous_variant | LOW | c.144C>T | p.Ser48Ser | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/5 | 238/609 | 144/294 | 48/97 | chr5 | 148174266 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:148169692 | A | G | 1 | a0001c0001t0003 | 1 | HG02622.hp1 | 5_prime_UTR_variant | MODIFIER | c.-41A>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/5 | 41 | chr5 | 148169692 | ||||||
chr5:148175466 | C | T | 1 | a0001c0001t0002 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*68C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 5/5 | 68 | chr5 | 148175466 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5:148168765 | T | G | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.-73+198T>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | chr5 | 148168765 | |||||||
chr5:148168785 | G | C | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.-73+218G>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | chr5 | 148168785 | |||||||
chr5:148168856 | C | T | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.-73+289C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | chr5 | 148168856 | |||||||
chr5:148168970 | T | C | 1 | a0001c0001t0001g0015 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-73+403T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | chr5 | 148168970 | |||||||
chr5:148169330 | CT | C | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.-72-322delT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | 148169330 | ||||||
chr5:148169600 | T | C | 6 | a0001c0001t0001g0012 a0001c0001t0002g0016 a0001c0002t0001g0009 others(3): Show |
8 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.-72-61T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 1/4 | chr5 | 148169600 | |||||||
chr5:148169929 | T | A | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+130T>A | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148169929 | |||||||
chr5:148169937 | C | T | 1 | a0001c0001t0001g0008 | 3 | NA19064.hp2 NA19074.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.67+138C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148169937 | |||||||
chr5:148169944 | C | CAT | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+145_67+146insAT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148169944 | |||||||
chr5:148169965 | G | GTATATA | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+172_67+177dupAT others(4): Show |
SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | 148169965 | ||||||
chr5:148170028 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.67+229T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170028 | |||||||
chr5:148170047 | C | G | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+248C>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170047 | |||||||
chr5:148170100 | CAT | C | 5 | a0001c0001t0001g0012 a0001c0002t0001g0009 a0001c0002t0001g0010 others(2): Show |
7 | HG01243.hp1 HG01243.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+302_67+303delAT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170100 | |||||||
chr5:148170158 | GTA | G | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.67+374_67+375delTA | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | 148170158 | ||||||
chr5:148170173 | T | C | 3 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0002g0016 |
3 | HG02738.hp2 NA18986.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.67+374T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170173 | |||||||
chr5:148170175 | C | T | 3 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 |
7 | NA18939.hp1 NA18957.hp2 NA18964.hp2 others(4): Show |
intron_variant | MODIFIER | c.67+376C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170175 | |||||||
chr5:148170186 | A | T | 2 | a0001c0002t0001g0010 a0001c0002t0001g0014 |
3 | HG01243.hp2 HG03139.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.67+387A>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170186 | |||||||
chr5:148170213 | T | G | 6 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0017 others(3): Show |
13 | HG02004.hp1 HG02135.hp2 HG02602.hp2 others(10): Show |
intron_variant | MODIFIER | c.67+414T>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170213 | |||||||
chr5:148170215 | G | T | 2 | a0001c0001t0003g0031 a0001c0002t0001g0014 |
2 | HG01243.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.67+416G>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170215 | |||||||
chr5:148170630 | A | G | 1 | a0001c0001t0001g0011 | 2 | HG02970.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.68-300A>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170630 | |||||||
chr5:148170758 | A | C | 1 | a0001c0001t0001g0012 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.68-172A>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170758 | |||||||
chr5:148170777 | A | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0030 |
2 | HG02071.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.68-153A>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 2/4 | chr5 | 148170777 | |||||||
chr5:148171005 | T | G | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.111+32T>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171005 | |||||||
chr5:148171099 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.111+126C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171099 | |||||||
chr5:148171110 | G | T | 1 | a0001c0001t0001g0028 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.111+137G>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171110 | |||||||
chr5:148171320 | C | G | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.111+347C>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171320 | |||||||
chr5:148171375 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.111+402T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171375 | |||||||
chr5:148171509 | G | A | 1 | a0001c0001t0002g0016 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.111+536G>A | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171509 | |||||||
chr5:148171723 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.111+750C>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171723 | |||||||
chr5:148171769 | G | T | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.111+796G>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171769 | |||||||
chr5:148171799 | T | C | 1 | a0001c0001t0001g0019 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.111+826T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171799 | |||||||
chr5:148171857 | G | C | 1 | a0001c0001t0001g0012 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.111+884G>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148171857 | |||||||
chr5:148172121 | T | C | 1 | a0001c0001t0001g0020 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.111+1148T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148172121 | |||||||
chr5:148172246 | G | A | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.111+1273G>A | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148172246 | |||||||
chr5:148172779 | T | C | 4 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 others(1): Show |
6 | HG02056.hp2 HG02074.hp2 NA18947.hp1 others(3): Show |
intron_variant | MODIFIER | c.112-1455T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148172779 | |||||||
chr5:148172798 | G | GAC | 4 | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 others(1): Show |
6 | HG01243.hp1 HG01243.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.112-1433_112-1432d others(4): Show |
SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | 148172798 | ||||||
chr5:148172820 | T | C | 1 | a0001c0001t0001g0023 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.112-1414T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148172820 | |||||||
chr5:148173826 | G | A | 2 | a0001c0002t0001g0009 a0001c0002t0001g0013 |
3 | HG01243.hp1 HG02818.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.112-408G>A | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148173826 | |||||||
chr5:148173855 | A | AT | 5 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0026 others(2): Show |
10 | HG00735.hp1 HG00735.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.112-359dupT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | 148173855 | ||||||
chr5:148173855 | AT | A | 4 | a0001c0001t0001g0024 a0001c0002t0001g0009 a0001c0002t0001g0010 others(1): Show |
6 | HG01243.hp1 HG02818.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.112-359delT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | 148173855 | ||||||
chr5:148174104 | A | C | 1 | a0001c0001t0001g0033 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.112-130A>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148174104 | |||||||
chr5:148174108 | T | C | 1 | a0001c0001t0001g0021 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.112-126T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 3/4 | chr5 | 148174108 | |||||||
chr5:148174676 | A | AT | 22 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show |
82 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(79): Show |
intron_variant | MODIFIER | c.248+312dupT | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | 148174676 | ||||||
chr5:148174849 | A | C | 1 | a0001c0001t0001g0025 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.248+479A>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | chr5 | 148174849 | |||||||
chr5:148174909 | G | T | 1 | a0001c0001t0001g0007 | 3 | HG02818.hp2 NA19030.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.249-444G>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | chr5 | 148174909 | |||||||
chr5:148175176 | A | G | 1 | a0001c0001t0001g0023 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.249-177A>G | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | chr5 | 148175176 | |||||||
chr5:148175286 | TA | T | 2 | a0001c0001t0001g0026 a0001c0001t0001g0033 |
2 | NA18985.hp1 NA18997.hp1 |
intron_variant | MODIFIER | c.249-63delA | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | 148175286 | ||||||
chr5:148175291 | G | T | 1 | a0001c0001t0001g0027 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.249-62G>T | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | chr5 | 148175291 | |||||||
chr5:148175314 | T | C | 1 | a0001c0001t0001g0022 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.249-39T>C | SPINK14 | ENSG00000196800.7 | transcript | ENST00000356972.2 | protein_coding | 4/4 | chr5 | 148175314 |