Item | Value |
---|---|
geneid | 11113 |
ensemblid | ENSG00000122966.18 |
hgncid | 1985 |
symbol | CIT |
name | citron rho-interacting serine/threonine kinase |
refseq_nuc | NM_001206999.2 |
refseq_prot | NP_001193928.1 |
ensembl_nuc | ENST00000392521.7 |
ensembl_prot | ENSP00000376306.2 |
mane_status | MANE Select |
chr | chr12 |
start | 119685791 |
end | 119877320 |
strand | - |
ver | v1.2 |
region | chr12:119685791-119877320 |
region5000 | chr12:119680791-119882320 |
regionname0 | CIT_chr12_119685791_119877320 |
regionname5000 | CIT_chr12_119680791_119882320 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 2069 | 210 | 63 | 29 | 88 | 6 | 22 | 65 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0002 | 0/0 | 2069 | 15 | 13 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0003 | 0/0 | 2069 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0004 | 0/0 | 2069 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0005 | 0/0 | 2069 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0006 | 0/0 | 2069 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0007 | 0/0 | 2069 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0008 | 0/0 | 2069 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0009 | 0/0 | 2069 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
a0010 | 0/0 | 2069 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | MLKFK others(2064): Show |
chr12 | 119680791 | 119882320 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 6207 | 92 | 15 | 16 | 46 | 2 | 12 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0002 | 1/0 | 6207 | 38 | 4 | 3 | 24 | 3 | 3 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0003 | 0/0 | 6207 | 25 | 14 | 7 | 0 | 1 | 3 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0005 | 0/0 | 6207 | 10 | 10 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0006 | 0/0 | 6207 | 9 | 1 | 0 | 8 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0007 | 0/0 | 6207 | 6 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0008 | 0/0 | 6207 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0009 | 0/0 | 6207 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0010 | 0/0 | 6207 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0011 | 0/0 | 6207 | 2 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0012 | 0/0 | 6207 | 2 | 0 | 0 | 0 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0013 | 0/0 | 6207 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0014 | 0/0 | 6207 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0015 | 0/0 | 6207 | 2 | 1 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0017 | 0/0 | 6207 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0023 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0025 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0026 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0027 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0028 | 0/0 | 6207 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0029 | 0/0 | 6207 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0030 | 0/0 | 6207 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0031 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0034 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0001c0035 | 0/0 | 6207 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0002c0004 | 0/0 | 6207 | 13 | 11 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0002c0016 | 0/0 | 6207 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0003c0022 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0003c0033 | 0/0 | 6207 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0004c0019 | 0/0 | 6207 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0005c0018 | 0/0 | 6207 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0006c0020 | 0/0 | 6207 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0007c0036 | 0/0 | 6207 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0008c0021 | 0/0 | 6207 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0009c0032 | 0/0 | 6207 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 | ||
a0010c0024 | 0/0 | 6207 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | ATGTT others(6202): Show |
chr12 | 119680791 | 119882320 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 8735 | 53 | 11 | 8 | 22 | 2 | 9 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0002 | 0/0 | 8735 | 9 | 1 | 0 | 8 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0003 | 0/0 | 8734 | 2 | 1 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0004 | 0/0 | 8735 | 16 | 0 | 2 | 12 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0006 | 0/0 | 8734 | 4 | 1 | 3 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0008 | 0/0 | 8736 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0015 | 0/0 | 8735 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0016 | 0/0 | 8733 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8728): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0021 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0023 | 0/0 | 8736 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0025 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0001t0026 | 0/0 | 8736 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0001 | 0/0 | 8735 | 4 | 1 | 0 | 3 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0002 | 0/0 | 8735 | 25 | 1 | 1 | 18 | 2 | 3 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0008 | 1/0 | 8736 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0013 | 0/0 | 8736 | 3 | 0 | 2 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0014 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0018 | 0/0 | 8734 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0002t0020 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0003t0003 | 0/0 | 8734 | 21 | 13 | 5 | 0 | 1 | 2 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0003t0005 | 0/0 | 8735 | 3 | 0 | 2 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0003t0017 | 0/0 | 8733 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8728): Show |
chr12 | 119680791 | 119882320 |
a0001c0005t0008 | 0/0 | 8736 | 5 | 5 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0005t0010 | 0/0 | 8733 | 4 | 4 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8728): Show |
chr12 | 119680791 | 119882320 |
a0001c0005t0022 | 0/0 | 8736 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0006t0001 | 0/0 | 8735 | 3 | 0 | 0 | 3 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0006t0012 | 0/0 | 8735 | 4 | 0 | 0 | 4 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0006t0024 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0006t0027 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0007t0005 | 0/0 | 8735 | 6 | 5 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0008t0001 | 0/0 | 8735 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0009t0009 | 0/0 | 8736 | 3 | 3 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0010t0002 | 0/0 | 8735 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0011t0009 | 0/0 | 8736 | 2 | 0 | 1 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8731): Show |
chr12 | 119680791 | 119882320 |
a0001c0012t0002 | 0/0 | 8735 | 2 | 0 | 0 | 0 | 0 | 2 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0013t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0013t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0014t0001 | 0/0 | 8735 | 2 | 0 | 0 | 2 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0015t0006 | 0/0 | 8734 | 2 | 1 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0017t0003 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0023t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0025t0003 | 0/0 | 8734 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0026t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0027t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0028t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0029t0003 | 0/0 | 8734 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0001c0030t0005 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0031t0004 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0034t0001 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0001c0035t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0002c0004t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0002c0004t0007 | 0/0 | 8735 | 7 | 7 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0002c0004t0011 | 0/0 | 8734 | 4 | 2 | 2 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0002c0004t0019 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0002c0016t0001 | 0/0 | 8735 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0003c0022t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0003c0033t0006 | 0/0 | 8734 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0004c0019t0003 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0005c0018t0006 | 0/0 | 8734 | 2 | 2 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0006c0020t0001 | 0/0 | 8735 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0007c0036t0003 | 0/0 | 8734 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0008c0021t0003 | 0/0 | 8734 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8729): Show |
chr12 | 119680791 | 119882320 |
a0009c0032t0001 | 0/0 | 8735 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
a0010c0024t0002 | 0/0 | 8735 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | GTTCC others(8730): Show |
chr12 | 119680791 | 119882320 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0159 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0003g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0004g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0005g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0006g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0006g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0006g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0006g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0008g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0015g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0016g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0021g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0023g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0025g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0001t0026g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0004g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0008g0185 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0013g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0013g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0013g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0014g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0014g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0018g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0002t0020g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0003g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0005g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0005g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0005g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0003t0017g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0008g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0008g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0008g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0008g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0008g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0010g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0010g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0010g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0010g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0005t0022g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0012g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0012g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0012g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0012g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0024g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0006t0027g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0007t0005g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0008t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0008t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0008t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0009t0009g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0009t0009g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0009t0009g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0010t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0010t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0011t0009g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0011t0009g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0012t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0012t0002g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0013t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0013t0005g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0014t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0014t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0015t0006g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0015t0006g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0017t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0017t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0023t0004g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0025t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0026t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0027t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0028t0003g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0029t0003g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0030t0005g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0031t0004g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0034t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0001c0035t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0007g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0011g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0011g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0011g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0011g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0004t0019g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0016t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0002c0016t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0003c0022t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0003c0033t0006g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0004c0019t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0004c0019t0003g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0005c0018t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0005c0018t0006g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0006c0020t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0007c0036t0003g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0008c0021t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0009c0032t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
a0010c0024t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0001 | c0002 | t0013 | g0196 | EUR | FIN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0047 | EUR | FIN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00408 | hp1 | a0001 | c0034 | t0001 | g0063 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00408 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00597 | hp2 | a0001 | c0001 | t0004 | g0104 | EAS | CHS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00733 | hp1 | a0003 | c0033 | t0006 | g0176 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00733 | hp2 | a0001 | c0001 | t0006 | g0119 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0129 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00735 | hp2 | a0001 | c0003 | t0003 | g0086 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00738 | hp1 | a0001 | c0002 | t0013 | g0048 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00741 | hp1 | a0001 | c0002 | t0013 | g0071 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG00741 | hp2 | a0006 | c0020 | t0001 | g0027 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01069 | hp1 | a0001 | c0003 | t0003 | g0031 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0117 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01081 | hp2 | a0001 | c0003 | t0003 | g0184 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01106 | hp1 | a0001 | c0001 | t0008 | g0134 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01106 | hp2 | a0001 | c0011 | t0009 | g0191 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01109 | hp1 | a0001 | c0007 | t0005 | g0219 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01109 | hp2 | a0001 | c0003 | t0003 | g0149 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01167 | hp1 | a0001 | c0001 | t0016 | g0123 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01167 | hp2 | a0001 | c0002 | t0002 | g0072 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01168 | hp1 | a0002 | c0004 | t0011 | g0038 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01169 | hp1 | a0001 | c0001 | t0006 | g0124 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01169 | hp2 | a0002 | c0004 | t0011 | g0035 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01243 | hp1 | a0001 | c0003 | t0003 | g0208 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01243 | hp2 | a0001 | c0015 | t0006 | g0023 | AMR | PUR | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01257 | hp1 | a0001 | c0001 | t0006 | g0116 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01257 | hp2 | a0001 | c0003 | t0005 | g0189 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01258 | hp2 | a0001 | c0003 | t0005 | g0190 | AMR | CLM | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01515 | hp1 | a0001 | c0002 | t0002 | g0155 | EUR | IBS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01515 | hp2 | a0001 | c0001 | t0001 | g0180 | EUR | IBS | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01928 | hp1 | a0001 | c0001 | t0004 | g0148 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01928 | hp2 | a0001 | c0001 | t0015 | g0094 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01934 | hp1 | a0001 | c0001 | t0004 | g0194 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02015 | hp1 | a0001 | c0002 | t0002 | g0222 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02015 | hp2 | a0001 | c0001 | t0004 | g0165 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02027 | hp1 | a0001 | c0001 | t0021 | g0171 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02027 | hp2 | a0001 | c0002 | t0002 | g0074 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02056 | hp1 | a0001 | c0002 | t0002 | g0096 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02071 | hp1 | a0001 | c0002 | t0002 | g0078 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02080 | hp1 | a0001 | c0001 | t0004 | g0164 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02080 | hp2 | a0001 | c0002 | t0002 | g0088 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02083 | hp2 | a0001 | c0001 | t0004 | g0163 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02165 | hp1 | a0001 | c0002 | t0002 | g0067 | EAS | CDX | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | CDX | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02257 | hp1 | a0001 | c0007 | t0005 | g0218 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02258 | hp1 | a0002 | c0004 | t0007 | g0054 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02258 | hp2 | a0001 | c0001 | t0003 | g0111 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02280 | hp1 | a0001 | c0008 | t0001 | g0210 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02280 | hp2 | a0002 | c0004 | t0007 | g0053 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02293 | hp2 | a0007 | c0036 | t0003 | g0207 | AMR | PEL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02451 | hp1 | a0001 | c0003 | t0003 | g0037 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02451 | hp2 | a0001 | c0003 | t0017 | g0060 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02523 | hp1 | a0001 | c0002 | t0002 | g0089 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | KHV | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02622 | hp1 | a0002 | c0004 | t0003 | g0044 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02630 | hp1 | a0001 | c0009 | t0009 | g0043 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02630 | hp2 | a0001 | c0003 | t0003 | g0182 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02647 | hp1 | a0001 | c0003 | t0003 | g0209 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02647 | hp2 | a0002 | c0016 | t0001 | g0014 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02717 | hp1 | a0004 | c0019 | t0003 | g0231 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02717 | hp2 | a0001 | c0005 | t0008 | g0022 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02723 | hp1 | a0001 | c0005 | t0008 | g0215 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02809 | hp1 | a0002 | c0004 | t0011 | g0056 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02809 | hp2 | a0001 | c0009 | t0009 | g0036 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02818 | hp1 | a0002 | c0016 | t0001 | g0061 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02818 | hp2 | a0002 | c0004 | t0007 | g0052 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02886 | hp1 | a0001 | c0005 | t0010 | g0217 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02886 | hp2 | a0002 | c0004 | t0007 | g0033 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02895 | hp1 | a0001 | c0005 | t0010 | g0042 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02895 | hp2 | a0001 | c0030 | t0005 | g0032 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02896 | hp1 | a0005 | c0018 | t0006 | g0005 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02896 | hp2 | a0001 | c0005 | t0008 | g0085 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02897 | hp1 | a0005 | c0018 | t0006 | g0006 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02897 | hp2 | a0001 | c0005 | t0022 | g0041 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02922 | hp1 | a0001 | c0005 | t0008 | g0021 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02922 | hp2 | a0001 | c0003 | t0003 | g0193 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02965 | hp1 | a0008 | c0021 | t0003 | g0003 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02965 | hp2 | a0002 | c0004 | t0019 | g0051 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02970 | hp2 | a0001 | c0007 | t0005 | g0062 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02976 | hp1 | a0002 | c0004 | t0007 | g0050 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02976 | hp2 | a0001 | c0002 | t0014 | g0235 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03017 | hp1 | a0001 | c0001 | t0004 | g0169 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03041 | hp1 | a0001 | c0015 | t0006 | g0004 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03041 | hp2 | a0001 | c0002 | t0002 | g0099 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03098 | hp1 | a0001 | c0013 | t0005 | g0029 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03098 | hp2 | a0001 | c0005 | t0010 | g0221 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03130 | hp1 | a0004 | c0019 | t0003 | g0002 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03130 | hp2 | a0001 | c0003 | t0003 | g0024 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03139 | hp1 | a0001 | c0008 | t0001 | g0212 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03139 | hp2 | a0001 | c0002 | t0001 | g0058 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03195 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03195 | hp2 | a0001 | c0005 | t0008 | g0181 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03209 | hp1 | a0001 | c0035 | t0003 | g0007 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03209 | hp2 | a0001 | c0003 | t0003 | g0192 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03225 | hp1 | a0001 | c0003 | t0003 | g0040 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03225 | hp2 | a0001 | c0003 | t0003 | g0213 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03239 | hp2 | a0001 | c0003 | t0003 | g0127 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03453 | hp1 | a0001 | c0009 | t0009 | g0039 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03453 | hp2 | a0002 | c0004 | t0011 | g0162 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0179 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03486 | hp2 | a0009 | c0032 | t0001 | g0028 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03490 | hp1 | a0001 | c0001 | t0003 | g0106 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03490 | hp2 | a0001 | c0002 | t0002 | g0045 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03492 | hp1 | a0001 | c0001 | t0004 | g0170 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03492 | hp2 | a0001 | c0002 | t0002 | g0046 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03516 | hp1 | a0001 | c0013 | t0003 | g0025 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03540 | hp1 | a0001 | c0003 | t0003 | g0198 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03540 | hp2 | a0002 | c0004 | t0007 | g0057 | AFR | GWD | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03579 | hp1 | a0001 | c0002 | t0014 | g0236 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03579 | hp2 | a0001 | c0001 | t0005 | g0020 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0109 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03688 | hp2 | a0001 | c0003 | t0005 | g0186 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03710 | hp2 | a0001 | c0012 | t0002 | g0101 | SAS | PJL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03834 | hp1 | a0001 | c0003 | t0003 | g0205 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0200 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03942 | hp1 | a0001 | c0029 | t0003 | g0187 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0223 | SAS | BEB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0201 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG04199 | hp2 | a0001 | c0012 | t0002 | g0203 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG04204 | hp2 | a0001 | c0002 | t0002 | g0066 | SAS | STU | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18612 | hp1 | a0010 | c0024 | t0002 | g0077 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18747 | hp2 | a0001 | c0002 | t0002 | g0065 | EAS | CHB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18906 | hp1 | a0001 | c0003 | t0003 | g0026 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18906 | hp2 | a0001 | c0017 | t0003 | g0013 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18939 | hp2 | a0001 | c0002 | t0020 | g0069 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18959 | hp1 | a0001 | c0001 | t0002 | g0140 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18959 | hp2 | a0001 | c0002 | t0001 | g0087 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18960 | hp1 | a0001 | c0002 | t0018 | g0068 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18960 | hp2 | a0001 | c0001 | t0002 | g0120 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18966 | hp1 | a0001 | c0014 | t0001 | g0084 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18966 | hp2 | a0001 | c0001 | t0004 | g0160 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18969 | hp1 | a0001 | c0006 | t0024 | g0112 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18969 | hp2 | a0001 | c0001 | t0004 | g0168 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18971 | hp1 | a0001 | c0006 | t0001 | g0131 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18971 | hp2 | a0001 | c0014 | t0001 | g0153 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18973 | hp1 | a0001 | c0006 | t0012 | g0115 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18973 | hp2 | a0001 | c0031 | t0004 | g0167 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18981 | hp1 | a0001 | c0002 | t0002 | g0136 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18981 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18982 | hp1 | a0001 | c0001 | t0026 | g0233 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18982 | hp2 | a0001 | c0006 | t0001 | g0135 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18983 | hp2 | a0001 | c0001 | t0004 | g0166 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18984 | hp2 | a0001 | c0023 | t0004 | g0059 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18991 | hp1 | a0001 | c0010 | t0002 | g0103 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18991 | hp2 | a0001 | c0006 | t0012 | g0141 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18993 | hp1 | a0001 | c0001 | t0004 | g0150 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18997 | hp1 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18997 | hp2 | a0001 | c0002 | t0002 | g0227 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18998 | hp1 | a0001 | c0001 | t0002 | g0126 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18998 | hp2 | a0001 | c0002 | t0001 | g0070 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19000 | hp1 | a0001 | c0001 | t0025 | g0107 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19000 | hp2 | a0001 | c0002 | t0002 | g0091 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19002 | hp1 | a0001 | c0002 | t0002 | g0092 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19002 | hp2 | a0001 | c0001 | t0023 | g0214 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19006 | hp2 | a0001 | c0001 | t0004 | g0156 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19009 | hp1 | a0001 | c0002 | t0002 | g0081 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19009 | hp2 | a0001 | c0001 | t0004 | g0173 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19010 | hp2 | a0001 | c0010 | t0002 | g0113 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19011 | hp1 | a0001 | c0006 | t0012 | g0128 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19011 | hp2 | a0001 | c0001 | t0002 | g0143 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19012 | hp2 | a0001 | c0002 | t0002 | g0083 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19030 | hp1 | a0001 | c0007 | t0005 | g0228 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19043 | hp1 | a0001 | c0006 | t0027 | g0234 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19056 | hp1 | a0001 | c0006 | t0012 | g0158 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19056 | hp2 | a0001 | c0002 | t0002 | g0075 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19060 | hp1 | a0001 | c0001 | t0004 | g0161 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19060 | hp2 | a0001 | c0002 | t0002 | g0076 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19065 | hp1 | a0001 | c0027 | t0002 | g0079 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19066 | hp1 | a0003 | c0022 | t0002 | g0082 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19066 | hp2 | a0001 | c0006 | t0001 | g0146 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19068 | hp1 | a0001 | c0002 | t0002 | g0151 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19079 | hp1 | a0001 | c0002 | t0002 | g0090 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19080 | hp1 | a0001 | c0002 | t0001 | g0093 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19080 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19081 | hp1 | a0001 | c0002 | t0004 | g0073 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19081 | hp2 | a0001 | c0001 | t0002 | g0138 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19089 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19089 | hp2 | a0001 | c0026 | t0002 | g0154 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19090 | hp2 | a0001 | c0001 | t0004 | g0204 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19240 | hp1 | a0001 | c0001 | t0006 | g0011 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA19240 | hp2 | a0001 | c0005 | t0010 | g0216 | AFR | YRI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20752 | hp1 | a0001 | c0002 | t0002 | g0102 | EUR | TSI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20752 | hp2 | a0001 | c0003 | t0003 | g0177 | EUR | TSI | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20905 | hp1 | a0001 | c0011 | t0009 | g0098 | SAS | GIH | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | GIH | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02109 | hp1 | a0001 | c0003 | t0003 | g0080 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02109 | hp2 | a0001 | c0008 | t0001 | g0211 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02559 | hp1 | a0001 | c0017 | t0003 | g0012 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG02559 | hp2 | a0001 | c0007 | t0005 | g0220 | AFR | ACB | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG03471 | hp2 | a0001 | c0003 | t0003 | g0197 | AFR | MSL | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG06807 | hp1 | a0001 | c0028 | t0003 | g0229 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
HG06807 | hp2 | a0001 | c0007 | t0005 | g0030 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18955 | hp1 | a0001 | c0025 | t0003 | g0064 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA18955 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0230 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA20300 | hp2 | a0002 | c0004 | t0007 | g0055 | AFR | USA | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA21309 | hp1 | a0001 | c0003 | t0003 | g0183 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
NA21309 | hp2 | a0001 | c0001 | t0002 | g0188 | AFR | LWK | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0159 | REF | REF | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
homoSapiens | grch38p0 | a0001 | c0002 | t0008 | g0185 | REF | REF | CIT_chr12_119680791_119882320 | CIT | chr12 | 119680791 | 119882320 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:119701660 | C | T | 1 | a0005 | 2 | HG02896.hp1 HG02897.hp1 |
missense_variant | MODERATE | c.5506G>A | p.Ala1836Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/48 | 5591/8736 | 5506/6210 | 1836/2069 | chr12 | 119701660 | |||
chr12:119708223 | T | C | 1 | a0002 | 15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
missense_variant | MODERATE | c.5167A>G | p.Ile1723Val | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/48 | 5252/8736 | 5167/6210 | 1723/2069 | chr12 | 119708223 | |||
chr12:119752194 | C | A | 1 | a0009 | 1 | HG03486.hp2 | missense_variant | MODERATE | c.2760G>T | p.Glu920Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2845/8736 | 2760/6210 | 920/2069 | chr12 | 119752194 | |||
chr12:119776804 | C | T | 1 | a0010 | 1 | NA18612.hp1 | missense_variant | MODERATE | c.1704G>A | p.Met568Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 14/48 | 1789/8736 | 1704/6210 | 568/2069 | chr12 | 119776804 | |||
chr12:119825199 | G | C | 1 | a0003 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.923C>G | p.Ser308Cys | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/48 | 1008/8736 | 923/6210 | 308/2069 | chr12 | 119825199 | |||
chr12:119825200 | A | C | 1 | a0003 | 1 | NA19066.hp1 | missense_variant | MODERATE | c.922T>G | p.Ser308Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/48 | 1007/8736 | 922/6210 | 308/2069 | chr12 | 119825200 | |||
chr12:119850238 | C | T | 1 | a0004 | 2 | HG02717.hp1 HG03130.hp1 |
missense_variant | MODERATE | c.452G>A | p.Arg151Gln | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/48 | 537/8736 | 452/6210 | 151/2069 | chr12 | 119850238 | |||
chr12:119869066 | G | A | 1 | a0007 | 1 | HG02293.hp2 | missense_variant | MODERATE | c.232C>T | p.Arg78Trp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/48 | 317/8736 | 232/6210 | 78/2069 | chr12 | 119869066 | |||
chr12:119876075 | G | T | 1 | a0008 | 1 | HG02965.hp1 | missense_variant&splice_region_variant | MODERATE | c.94C>A | p.Gln32Lys | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/48 | 179/8736 | 94/6210 | 32/2069 | chr12 | 119876075 | |||
chr12:119876149 | C | T | 1 | a0006 | 1 | HG00741.hp2 | missense_variant | MODERATE | c.20G>A | p.Gly7Glu | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/48 | 105/8736 | 20/6210 | 7/2069 | chr12 | 119876149 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:119688253 | G | C | 1 | a0001c0026 | 1 | NA19089.hp2 | splice_region_variant&synonymous_variant | LOW | c.6189C>G | p.Val2063Val | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 6274/8736 | 6189/6210 | 2063/2069 | chr12 | 119688253 | |||
chr12:119690277 | T | C | 1 | a0001c0010 | 2 | NA18991.hp1 NA19010.hp2 |
synonymous_variant | LOW | c.6060A>G | p.Arg2020Arg | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/48 | 6145/8736 | 6060/6210 | 2020/2069 | chr12 | 119690277 | |||
chr12:119690382 | C | A | 1 | a0001c0028 | 1 | HG06807.hp1 | synonymous_variant | LOW | c.5955G>T | p.Pro1985Pro | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/48 | 6040/8736 | 5955/6210 | 1985/2069 | chr12 | 119690382 | |||
chr12:119697673 | C | T | 1 | a0001c0015 | 2 | HG01243.hp2 HG03041.hp1 |
synonymous_variant | LOW | c.5868G>A | p.Pro1956Pro | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/48 | 5953/8736 | 5868/6210 | 1956/2069 | chr12 | 119697673 | |||
chr12:119697691 | A | G | 1 | a0001c0031 | 1 | NA18973.hp2 | synonymous_variant | LOW | c.5850T>C | p.Thr1950Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/48 | 5935/8736 | 5850/6210 | 1950/2069 | chr12 | 119697691 | |||
chr12:119701896 | T | G | 3 | a0001c0005 a0001c0007 a0001c0028 |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
synonymous_variant | LOW | c.5367A>C | p.Gly1789Gly | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 42/48 | 5452/8736 | 5367/6210 | 1789/2069 | chr12 | 119701896 | |||
chr12:119704429 | T | G | 1 | a0001c0029 | 1 | HG03942.hp1 | synonymous_variant | LOW | c.5238A>C | p.Ala1746Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/48 | 5323/8736 | 5238/6210 | 1746/2069 | chr12 | 119704429 | |||
chr12:119708182 | G | C | 8 | a0001c0005 a0001c0007 a0001c0009 others(5): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
synonymous_variant | LOW | c.5208C>G | p.Gly1736Gly | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/48 | 5293/8736 | 5208/6210 | 1736/2069 | chr12 | 119708182 | |||
chr12:119710558 | C | T | 4 | a0001c0006 a0001c0008 a0003c0033 others(1): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
synonymous_variant | LOW | c.4917G>A | p.Thr1639Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/48 | 5002/8736 | 4917/6210 | 1639/2069 | chr12 | 119710558 | |||
chr12:119718330 | G | A | 1 | a0001c0027 | 1 | NA19065.hp1 | synonymous_variant | LOW | c.4083C>T | p.Ile1361Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4168/8736 | 4083/6210 | 1361/2069 | chr12 | 119718330 | |||
chr12:119718336 | G | A | 7 | a0001c0003 a0001c0017 a0001c0025 others(4): Show |
32 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(29): Show |
synonymous_variant | LOW | c.4077C>T | p.Ser1359Ser | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4162/8736 | 4077/6210 | 1359/2069 | chr12 | 119718336 | |||
chr12:119718345 | G | A | 1 | a0001c0012 | 2 | HG03710.hp2 HG04199.hp2 |
synonymous_variant | LOW | c.4068C>T | p.Ile1356Ile | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/48 | 4153/8736 | 4068/6210 | 1356/2069 | chr12 | 119718345 | |||
chr12:119734190 | T | C | 26 | a0001c0001 a0001c0003 a0001c0005 others(23): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
synonymous_variant | LOW | c.3324A>G | p.Arg1108Arg | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/48 | 3409/8736 | 3324/6210 | 1108/2069 | chr12 | 119734190 | |||
chr12:119734337 | G | T | 1 | a0004c0019 | 2 | HG02717.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.3177C>A | p.Thr1059Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/48 | 3262/8736 | 3177/6210 | 1059/2069 | chr12 | 119734337 | |||
chr12:119735244 | G | A | 1 | a0001c0030 | 1 | HG02895.hp2 | synonymous_variant | LOW | c.3072C>T | p.Asp1024Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/48 | 3157/8736 | 3072/6210 | 1024/2069 | chr12 | 119735244 | |||
chr12:119752074 | A | G | 16 | a0001c0001 a0001c0005 a0001c0006 others(13): Show |
147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
synonymous_variant | LOW | c.2880T>C | p.Ala960Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2965/8736 | 2880/6210 | 960/2069 | chr12 | 119752074 | |||
chr12:119752083 | T | C | 13 | a0001c0001 a0001c0005 a0001c0006 others(10): Show |
126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
synonymous_variant | LOW | c.2871A>G | p.Thr957Thr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2956/8736 | 2871/6210 | 957/2069 | chr12 | 119752083 | |||
chr12:119752107 | C | T | 1 | a0001c0025 | 1 | NA18955.hp1 | synonymous_variant | LOW | c.2847G>A | p.Ala949Ala | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/48 | 2932/8736 | 2847/6210 | 949/2069 | chr12 | 119752107 | |||
chr12:119770806 | C | T | 2 | a0001c0007 a0004c0019 |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
synonymous_variant | LOW | c.2187G>A | p.Gln729Gln | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/48 | 2272/8736 | 2187/6210 | 729/2069 | chr12 | 119770806 | |||
chr12:119782560 | A | G | 1 | a0001c0023 | 1 | NA18984.hp2 | synonymous_variant | LOW | c.1623T>C | p.Asp541Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/48 | 1708/8736 | 1623/6210 | 541/2069 | chr12 | 119782560 | |||
chr12:119832834 | G | A | 1 | a0003c0033 | 1 | HG00733.hp1 | synonymous_variant | LOW | c.690C>T | p.Asp230Asp | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/48 | 775/8736 | 690/6210 | 230/2069 | chr12 | 119832834 | |||
chr12:119834094 | G | A | 1 | a0001c0034 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.651C>T | p.Tyr217Tyr | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/48 | 736/8736 | 651/6210 | 217/2069 | chr12 | 119834094 | |||
chr12:119857694 | G | A | 2 | a0001c0035 a0005c0018 |
3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.243C>T | p.Ser81Ser | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/48 | 328/8736 | 243/6210 | 81/2069 | chr12 | 119857694 | |||
chr12:119869082 | G | A | 1 | a0004c0019 | 2 | HG02717.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.216C>T | p.His72His | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/48 | 301/8736 | 216/6210 | 72/2069 | chr12 | 119869082 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:119686381 | C | T | 2 | a0001c0002t0018 a0001c0002t0020 |
2 | NA18939.hp2 NA18960.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1851G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1851 | chr12 | 119686381 | ||||||
chr12:119686382 | G | A | 2 | a0001c0005t0010 a0001c0005t0022 |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1850C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1850 | chr12 | 119686382 | ||||||
chr12:119686480 | G | A | 1 | a0001c0001t0021 | 1 | HG02027.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1752C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1752 | chr12 | 119686480 | ||||||
chr12:119686588 | C | A | 1 | a0002c0004t0011 | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1644G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1644 | chr12 | 119686588 | ||||||
chr12:119686731 | C | T | 1 | a0001c0006t0024 | 1 | NA18969.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1501G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1501 | chr12 | 119686731 | ||||||
chr12:119686732 | G | T | 2 | a0002c0004t0007 a0002c0004t0019 |
8 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1500C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1500 | chr12 | 119686732 | ||||||
chr12:119686745 | C | T | 1 | a0002c0004t0011 | 4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1487G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1487 | chr12 | 119686745 | ||||||
chr12:119686773 | G | A | 22 | a0001c0001t0003 a0001c0001t0005 a0001c0002t0014 others(19): Show |
59 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*1459C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1459 | chr12 | 119686773 | ||||||
chr12:119686892 | T | C | 6 | a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 others(3): Show |
21 | HG00597.hp2 HG01928.hp1 HG01934.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1340A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 1340 | chr12 | 119686892 | ||||||
chr12:119687342 | G | A | 2 | a0001c0009t0009 a0001c0011t0009 |
5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*890C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 890 | chr12 | 119687342 | ||||||
chr12:119687435 | C | T | 13 | a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 others(10): Show |
52 | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*797G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 797 | chr12 | 119687435 | ||||||
chr12:119687794 | TA | T | 34 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show |
159 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*437delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 437 | chr12 | 119687794 | ||||||
chr12:119687794 | TAA | T | 20 | a0001c0001t0003 a0001c0001t0006 a0001c0002t0014 others(17): Show |
52 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*436_*437delTT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 436 | chr12 | 119687794 | ||||||
chr12:119687794 | TAAA | T | 3 | a0001c0001t0016 a0001c0003t0017 a0001c0005t0010 |
6 | HG01167.hp1 HG02451.hp2 HG02886.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*435_*437delTTT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 435 | chr12 | 119687794 | ||||||
chr12:119688032 | C | T | 1 | a0001c0001t0015 | 1 | HG01928.hp2 | 3_prime_UTR_variant | MODIFIER | c.*200G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 200 | chr12 | 119688032 | ||||||
chr12:119688103 | G | A | 2 | a0001c0006t0012 a0001c0006t0024 |
5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*129C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 129 | chr12 | 119688103 | ||||||
chr12:119688115 | G | A | 1 | a0001c0001t0025 | 1 | NA19000.hp1 | 3_prime_UTR_variant | MODIFIER | c.*117C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 48/48 | 117 | chr12 | 119688115 | ||||||
chr12:119877256 | G | A | 1 | a0001c0001t0026 | 1 | NA18982.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-21C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/48 | chr12 | 119877256 | |||||||
chr12:119877267 | T | C | 2 | a0001c0002t0014 a0001c0006t0027 |
3 | HG02976.hp2 HG03579.hp1 NA19043.hp1 |
5_prime_UTR_variant | MODIFIER | c.-32A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/48 | 1099 | chr12 | 119877267 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:119688260 | G | A | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | splice_region_variant&intron_variant | LOW | c.6187-5C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688260 | |||||||
chr12:119688269 | A | AAGG | 81 | a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0005g0020 others(78): Show |
81 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(78): Show |
intron_variant | MODIFIER | c.6187-17_6187-15dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688269 | |||||||
chr12:119688279 | G | A | 2 | a0002c0016t0001g0014 a0002c0016t0001g0061 |
2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.6187-24C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688279 | |||||||
chr12:119688736 | C | T | 2 | a0002c0016t0001g0014 a0002c0016t0001g0061 |
2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.6187-481G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119688736 | |||||||
chr12:119689190 | AAAAC | A | 59 | a0001c0001t0003g0106 a0001c0001t0003g0111 a0001c0001t0005g0020 others(56): Show |
59 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.6187-939_6187-936d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689190 | |||||||
chr12:119689194 | C | CA | 5 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 others(2): Show |
5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.6187-940dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689194 | |||||||
chr12:119689416 | G | C | 9 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 others(6): Show |
9 | HG01168.hp1 HG01169.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.6186+735C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689416 | |||||||
chr12:119689533 | AT | A | 4 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(1): Show |
4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.6186+617delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689533 | |||||||
chr12:119689666 | C | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6186+485G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | C | CT | 46 | a0001c0001t0001g0130 a0001c0001t0002g0095 a0001c0001t0002g0105 others(43): Show |
46 | HG00735.hp2 HG00738.hp1 HG01106.hp2 others(43): Show |
intron_variant | MODIFIER | c.6186+484dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | C | CTT | 61 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0034 others(58): Show |
61 | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.6186+483_6186+484d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | C | CTTT | 28 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0132 others(25): Show |
28 | HG00733.hp2 HG00738.hp2 HG01069.hp2 others(25): Show |
intron_variant | MODIFIER | c.6186+482_6186+484d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | C | CTTTT | 9 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0201 others(6): Show |
9 | HG02056.hp2 HG02080.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.6186+481_6186+484d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | C | CTTTTTTT | 5 | a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0007t0005g0218 others(2): Show |
5 | HG01109.hp1 HG01934.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.6186+478_6186+484d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | CT | C | 7 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(4): Show |
7 | HG02886.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.6186+484delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | CTTTTTTT others(5): Show |
C | 8 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 others(5): Show |
8 | HG01168.hp1 HG02717.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.6186+473_6186+484d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | CTTTTTTT others(6): Show |
C | 4 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(1): Show |
4 | HG01169.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.6186+472_6186+484d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689666 | CTTTTTTT others(8): Show |
C | 2 | a0001c0009t0009g0039 a0001c0009t0009g0043 |
2 | HG02630.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.6186+470_6186+484d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689666 | |||||||
chr12:119689764 | G | A | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.6186+387C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689764 | |||||||
chr12:119689770 | C | T | 9 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(6): Show |
9 | HG00733.hp1 NA18969.hp1 NA18971.hp1 others(6): Show |
intron_variant | MODIFIER | c.6186+381G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689770 | |||||||
chr12:119689930 | C | T | 16 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(13): Show |
16 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.6186+221G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689930 | |||||||
chr12:119689943 | T | C | 7 | a0001c0006t0027g0234 a0001c0008t0001g0210 a0001c0008t0001g0211 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.6186+208A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | 119689943 | |||||||
chr12:119690664 | C | T | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0223 |
3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.5883-210G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690664 | |||||||
chr12:119690769 | C | T | 23 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(20): Show |
23 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.5883-315G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690769 | |||||||
chr12:119690803 | G | A | 17 | a0001c0001t0004g0104 a0001c0001t0004g0150 a0001c0001t0004g0156 others(14): Show |
17 | HG00597.hp2 HG02015.hp2 HG02027.hp1 others(14): Show |
intron_variant | MODIFIER | c.5883-349C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690803 | |||||||
chr12:119690855 | T | C | 6 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5883-401A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690855 | |||||||
chr12:119690896 | A | G | 17 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-442T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690896 | |||||||
chr12:119690907 | C | T | 3 | a0001c0007t0005g0218 a0001c0007t0005g0219 a0001c0007t0005g0220 |
3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.5883-453G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119690907 | |||||||
chr12:119691017 | C | T | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.5883-563G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691017 | |||||||
chr12:119691137 | A | T | 4 | a0001c0001t0002g0143 a0001c0006t0012g0141 a0001c0006t0012g0158 others(1): Show |
4 | NA18969.hp1 NA18991.hp2 NA19011.hp2 others(1): Show |
intron_variant | MODIFIER | c.5883-683T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691137 | |||||||
chr12:119691171 | C | CA | 16 | a0001c0001t0002g0138 a0001c0002t0002g0078 a0001c0002t0002g0136 others(13): Show |
16 | HG01168.hp1 HG01169.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.5883-718dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691171 | |||||||
chr12:119691171 | CA | C | 88 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(85): Show |
88 | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.5883-718delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691171 | |||||||
chr12:119691406 | C | G | 17 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-952G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691406 | |||||||
chr12:119691574 | A | G | 17 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5883-1120T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691574 | |||||||
chr12:119691626 | G | A | 188 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(185): Show |
188 | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(185): Show |
intron_variant | MODIFIER | c.5883-1172C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691626 | |||||||
chr12:119691642 | C | T | 2 | a0001c0002t0014g0235 a0001c0002t0014g0236 |
2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.5883-1188G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691642 | |||||||
chr12:119691837 | C | T | 3 | a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0002t0002g0090 |
3 | NA18960.hp2 NA19011.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.5883-1383G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691837 | |||||||
chr12:119691982 | T | C | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5883-1528A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119691982 | |||||||
chr12:119692221 | G | A | 2 | a0001c0001t0005g0020 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.5883-1767C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692221 | |||||||
chr12:119692507 | A | C | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5883-2053T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692507 | |||||||
chr12:119692922 | G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.5883-2468C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119692922 | |||||||
chr12:119693031 | T | TAAGATGT others(357): Show |
1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5883-2578_5883-257 others(368): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693031 | |||||||
chr12:119693048 | A | G | 37 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(34): Show |
37 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(34): Show |
intron_variant | MODIFIER | c.5883-2594T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693048 | |||||||
chr12:119693413 | C | T | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5883-2959G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693413 | |||||||
chr12:119693494 | A | G | 1 | a0001c0001t0001g0097 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.5883-3040T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693494 | |||||||
chr12:119693622 | C | T | 20 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(17): Show |
20 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.5883-3168G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693622 | |||||||
chr12:119693635 | G | A | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5883-3181C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693635 | |||||||
chr12:119693935 | G | A | 22 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(19): Show |
22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5883-3481C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693935 | |||||||
chr12:119693987 | A | C | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5883-3533T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119693987 | |||||||
chr12:119694205 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5882+3454G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694205 | |||||||
chr12:119694234 | C | T | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+3425G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694234 | |||||||
chr12:119694350 | A | C | 6 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3309T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694350 | |||||||
chr12:119694351 | G | A | 6 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3308C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694351 | |||||||
chr12:119694385 | A | G | 1 | a0001c0005t0008g0181 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5882+3274T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694385 | |||||||
chr12:119694427 | C | T | 6 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3232G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694427 | |||||||
chr12:119694615 | G | A | 6 | a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+3044C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694615 | |||||||
chr12:119694714 | G | A | 8 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.5882+2945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694714 | |||||||
chr12:119694782 | G | A | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+2877C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694782 | |||||||
chr12:119694832 | AAAAT | A | 3 | a0001c0007t0005g0218 a0001c0007t0005g0219 a0001c0007t0005g0220 |
3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.5882+2823_5882+282 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694832 | |||||||
chr12:119694962 | T | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.5882+2697A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694962 | |||||||
chr12:119694992 | G | A | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+2667C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119694992 | |||||||
chr12:119695113 | T | C | 5 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 others(2): Show |
5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+2546A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695113 | |||||||
chr12:119695128 | T | C | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5882+2531A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695128 | |||||||
chr12:119695216 | T | C | 22 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(19): Show |
22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5882+2443A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695216 | |||||||
chr12:119695361 | C | T | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.5882+2298G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695361 | |||||||
chr12:119695416 | G | C | 21 | a0001c0001t0004g0104 a0001c0001t0004g0148 a0001c0001t0004g0150 others(18): Show |
21 | HG00597.hp2 HG01928.hp1 HG01934.hp1 others(18): Show |
intron_variant | MODIFIER | c.5882+2243C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695416 | |||||||
chr12:119695545 | T | C | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5882+2114A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695545 | |||||||
chr12:119695787 | A | G | 1 | a0001c0001t0001g0109 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.5882+1872T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695787 | |||||||
chr12:119695800 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5882+1859C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695800 | |||||||
chr12:119695996 | C | T | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5882+1663G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119695996 | |||||||
chr12:119696261 | C | A | 4 | a0001c0002t0014g0235 a0001c0002t0014g0236 a0002c0004t0003g0044 others(1): Show |
4 | HG02622.hp1 HG02965.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.5882+1398G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696261 | |||||||
chr12:119696279 | T | C | 5 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 others(2): Show |
5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+1380A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696279 | |||||||
chr12:119696491 | A | C | 2 | a0001c0001t0004g0148 a0001c0001t0004g0194 |
2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.5882+1168T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696491 | |||||||
chr12:119696559 | C | T | 2 | a0001c0001t0005g0020 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.5882+1100G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696559 | |||||||
chr12:119696659 | C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5882+1000G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696659 | |||||||
chr12:119696660 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5882+999C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696660 | |||||||
chr12:119696821 | C | T | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.5882+838G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119696821 | |||||||
chr12:119697164 | G | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5882+495C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119697164 | |||||||
chr12:119697525 | G | A | 5 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 others(2): Show |
5 | HG02717.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.5882+134C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 46/47 | chr12 | 119697525 | |||||||
chr12:119697912 | G | T | 37 | a0001c0001t0003g0106 a0001c0002t0014g0235 a0001c0002t0014g0236 others(34): Show |
37 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.5702+64C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 45/47 | chr12 | 119697912 | |||||||
chr12:119698077 | C | T | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5624-23G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698077 | |||||||
chr12:119698124 | T | C | 36 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(33): Show |
36 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.5624-70A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698124 | |||||||
chr12:119698301 | T | C | 2 | a0002c0004t0011g0035 a0002c0004t0011g0038 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.5624-247A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698301 | |||||||
chr12:119698315 | C | T | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5624-261G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698315 | |||||||
chr12:119698403 | T | A | 22 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(19): Show |
22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5624-349A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698403 | |||||||
chr12:119698467 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-413C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698467 | |||||||
chr12:119698491 | G | A | 13 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(10): Show |
13 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.5624-437C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698491 | |||||||
chr12:119698589 | C | CA | 14 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(11): Show |
14 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-536dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | |||||||
chr12:119698589 | CA | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.5624-536delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | |||||||
chr12:119698589 | CAA | C | 40 | a0001c0001t0001g0047 a0001c0001t0001g0180 a0001c0001t0003g0106 others(37): Show |
40 | HG00280.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.5624-537_5624-536d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698589 | |||||||
chr12:119698608 | T | A | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-554A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698608 | |||||||
chr12:119698705 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5624-651C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698705 | |||||||
chr12:119698733 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5624-679C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698733 | |||||||
chr12:119698768 | A | G | 50 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(47): Show |
50 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(47): Show |
intron_variant | MODIFIER | c.5624-714T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698768 | |||||||
chr12:119698863 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-809C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698863 | |||||||
chr12:119698972 | G | A | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5624-918C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698972 | |||||||
chr12:119698988 | C | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.5624-934G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119698988 | |||||||
chr12:119699021 | G | A | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-967C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699021 | |||||||
chr12:119699063 | T | G | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.5624-1009A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699063 | |||||||
chr12:119699128 | C | T | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-1074G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699128 | |||||||
chr12:119699177 | A | T | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5624-1123T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699177 | |||||||
chr12:119699256 | C | CA | 14 | a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0199 others(11): Show |
14 | HG02027.hp1 HG02451.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.5624-1203dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | |||||||
chr12:119699256 | CA | C | 18 | a0001c0001t0006g0116 a0001c0003t0003g0024 a0001c0005t0008g0021 others(15): Show |
18 | HG01257.hp1 HG02258.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.5624-1203delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | |||||||
chr12:119699256 | CAA | C | 14 | a0001c0005t0008g0022 a0001c0005t0008g0085 a0001c0005t0008g0181 others(11): Show |
14 | HG01109.hp1 HG02257.hp1 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.5624-1204_5624-120 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699256 | |||||||
chr12:119699292 | T | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5624-1238A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699292 | |||||||
chr12:119699315 | C | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1261G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699315 | |||||||
chr12:119699339 | TAATACTC | T | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1292_5624-128 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699339 | |||||||
chr12:119699348 | A | T | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.5624-1294T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699348 | |||||||
chr12:119699355 | C | T | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5624-1301G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699355 | |||||||
chr12:119699483 | G | A | 1 | a0001c0001t0004g0104 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.5623+1262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699483 | |||||||
chr12:119699489 | C | T | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+1256G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699489 | |||||||
chr12:119699524 | C | G | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.5623+1221G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699524 | |||||||
chr12:119699528 | G | A | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5623+1217C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699528 | |||||||
chr12:119699566 | C | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+1179G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699566 | |||||||
chr12:119699646 | A | G | 36 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(33): Show |
36 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.5623+1099T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119699646 | |||||||
chr12:119700118 | A | G | 2 | a0001c0003t0003g0037 a0001c0003t0003g0040 |
2 | HG02451.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.5623+627T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700118 | |||||||
chr12:119700215 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5623+530C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700215 | |||||||
chr12:119700234 | C | A | 1 | a0001c0002t0002g0136 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.5623+511G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700234 | |||||||
chr12:119700238 | C | T | 2 | a0001c0015t0006g0004 a0001c0015t0006g0023 |
2 | HG01243.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5623+507G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700238 | |||||||
chr12:119700381 | G | GT | 6 | a0001c0001t0001g0019 a0001c0001t0001g0139 a0001c0002t0001g0058 others(3): Show |
6 | HG02293.hp1 HG02293.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.5623+363dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700381 | |||||||
chr12:119700501 | G | A | 22 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(19): Show |
22 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.5623+244C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700501 | |||||||
chr12:119700580 | G | A | 1 | a0001c0001t0004g0160 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5623+165C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700580 | |||||||
chr12:119700660 | C | T | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.5623+85G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700660 | |||||||
chr12:119700720 | A | G | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5623+25T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | 119700720 | |||||||
chr12:119700874 | G | C | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5543-49C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119700874 | |||||||
chr12:119701048 | A | G | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5543-223T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701048 | |||||||
chr12:119701060 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5543-235C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701060 | |||||||
chr12:119701185 | AAGGGGGA others(19): Show |
A | 39 | a0001c0001t0005g0020 a0001c0002t0018g0068 a0001c0002t0020g0069 others(36): Show |
39 | HG00741.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5543-386_5543-361d others(28): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701185 | |||||||
chr12:119701233 | T | A | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5542+391A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701233 | |||||||
chr12:119701242 | G | A | 17 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(14): Show |
17 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
intron_variant | MODIFIER | c.5542+382C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701242 | |||||||
chr12:119701301 | G | C | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5542+323C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701301 | |||||||
chr12:119701310 | A | AAAGGGAG others(3): Show |
1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5542+304_5542+313d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701310 | |||||||
chr12:119701440 | C | G | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.5542+184G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 43/47 | chr12 | 119701440 | |||||||
chr12:119701828 | C | T | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5413+22G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 42/47 | chr12 | 119701828 | |||||||
chr12:119702066 | T | C | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.5305-108A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702066 | |||||||
chr12:119702108 | C | CT | 26 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0005t0008g0021 others(23): Show |
26 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.5305-151dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702108 | |||||||
chr12:119702108 | CT | C | 5 | a0001c0001t0003g0106 a0001c0003t0003g0031 a0001c0003t0003g0184 others(2): Show |
5 | HG01069.hp1 HG01081.hp2 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.5305-151delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702108 | |||||||
chr12:119702169 | A | G | 5 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 others(2): Show |
5 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.5305-211T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702169 | |||||||
chr12:119702235 | A | G | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5305-277T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702235 | |||||||
chr12:119702413 | C | A | 1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.5305-455G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702413 | |||||||
chr12:119702574 | T | C | 46 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(43): Show |
46 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(43): Show |
intron_variant | MODIFIER | c.5305-616A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702574 | |||||||
chr12:119702768 | G | GA | 24 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(21): Show |
24 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5305-811dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702768 | |||||||
chr12:119702882 | T | TATGCAGT others(1): Show |
19 | a0001c0002t0014g0236 a0001c0005t0008g0021 a0001c0005t0008g0022 others(16): Show |
19 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(16): Show |
intron_variant | MODIFIER | c.5305-932_5305-925d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702882 | |||||||
chr12:119702990 | C | T | 3 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 |
3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5305-1032G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119702990 | |||||||
chr12:119703159 | G | GA | 37 | a0001c0001t0003g0106 a0001c0002t0014g0235 a0001c0002t0014g0236 others(34): Show |
37 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.5305-1202dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703159 | |||||||
chr12:119703231 | C | T | 4 | a0001c0003t0003g0198 a0001c0017t0003g0012 a0001c0017t0003g0013 others(1): Show |
4 | HG02559.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.5304+1132G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703231 | |||||||
chr12:119703280 | G | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5304+1083C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703280 | |||||||
chr12:119703421 | C | CT | 6 | a0001c0001t0001g0172 a0001c0001t0004g0156 a0001c0001t0004g0160 others(3): Show |
6 | NA18966.hp2 NA18969.hp2 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.5304+941dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | |||||||
chr12:119703421 | CT | C | 68 | a0001c0001t0001g0178 a0001c0001t0001g0224 a0001c0001t0005g0020 others(65): Show |
68 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(65): Show |
intron_variant | MODIFIER | c.5304+941delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | |||||||
chr12:119703421 | CTT | C | 6 | a0001c0003t0005g0189 a0001c0005t0010g0216 a0001c0005t0010g0217 others(3): Show |
6 | HG01257.hp2 HG02886.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.5304+940_5304+941d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703421 | |||||||
chr12:119703481 | G | A | 36 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(33): Show |
36 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(33): Show |
intron_variant | MODIFIER | c.5304+882C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703481 | |||||||
chr12:119703512 | A | G | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5304+851T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703512 | |||||||
chr12:119703617 | G | A | 1 | a0001c0001t0001g0180 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.5304+746C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703617 | |||||||
chr12:119703742 | A | G | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5304+621T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703742 | |||||||
chr12:119703796 | G | T | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5304+567C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703796 | |||||||
chr12:119703923 | A | G | 1 | a0001c0001t0006g0119 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5304+440T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703923 | |||||||
chr12:119703996 | T | C | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.5304+367A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119703996 | |||||||
chr12:119704029 | TAGAA | T | 3 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 |
3 | HG02257.hp2 HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.5304+330_5304+333d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704029 | |||||||
chr12:119704045 | T | C | 2 | a0001c0017t0003g0012 a0001c0017t0003g0013 |
2 | HG02559.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.5304+318A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704045 | |||||||
chr12:119704101 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5304+262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704101 | |||||||
chr12:119704215 | C | T | 1 | a0001c0002t0002g0081 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.5304+148G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704215 | |||||||
chr12:119704243 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5304+120G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704243 | |||||||
chr12:119704319 | G | T | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5304+44C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 41/47 | chr12 | 119704319 | |||||||
chr12:119704560 | C | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.5212-105G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704560 | |||||||
chr12:119704578 | G | T | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5212-123C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704578 | |||||||
chr12:119704649 | G | A | 1 | a0001c0001t0001g0145 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.5212-194C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704649 | |||||||
chr12:119704678 | C | T | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5212-223G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704678 | |||||||
chr12:119704721 | C | T | 2 | a0001c0002t0002g0045 a0001c0002t0002g0046 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.5212-266G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704721 | |||||||
chr12:119704788 | C | T | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5212-333G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704788 | |||||||
chr12:119704982 | G | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5212-527C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119704982 | |||||||
chr12:119705006 | G | A | 2 | a0001c0001t0001g0132 a0001c0001t0001g0144 |
2 | NA19010.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.5212-551C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705006 | |||||||
chr12:119705051 | C | T | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5212-596G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705051 | |||||||
chr12:119705165 | G | A | 11 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(8): Show |
11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.5212-710C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705165 | |||||||
chr12:119705208 | C | T | 1 | a0001c0003t0003g0184 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.5212-753G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705208 | |||||||
chr12:119705473 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.5212-1018A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705473 | |||||||
chr12:119705630 | G | A | 14 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5212-1175C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705630 | |||||||
chr12:119705680 | A | G | 58 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(55): Show |
58 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.5212-1225T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705680 | |||||||
chr12:119705716 | G | A | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5212-1261C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705716 | |||||||
chr12:119705744 | C | A | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5212-1289G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705744 | |||||||
chr12:119705763 | C | T | 3 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 |
3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.5212-1308G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705763 | |||||||
chr12:119705770 | T | A | 3 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 |
3 | NA18966.hp2 NA18969.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.5212-1315A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705770 | |||||||
chr12:119705771 | C | CA | 5 | a0001c0003t0003g0026 a0001c0003t0003g0198 a0001c0013t0003g0025 others(2): Show |
5 | HG02717.hp1 HG03516.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.5212-1317dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CA | C | 52 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(49): Show |
52 | HG00597.hp1 HG00597.hp2 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.5212-1317delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CAA | C | 49 | a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0047 others(46): Show |
49 | HG00280.hp2 HG00738.hp2 HG01069.hp2 others(46): Show |
intron_variant | MODIFIER | c.5212-1318_5212-131 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CAAA | C | 28 | a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0199 others(25): Show |
28 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(25): Show |
intron_variant | MODIFIER | c.5212-1319_5212-131 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CAAAA | C | 34 | a0001c0001t0002g0095 a0001c0001t0002g0120 a0001c0001t0002g0143 others(31): Show |
34 | HG00733.hp1 HG00738.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.5212-1320_5212-131 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CAAAAAAA others(4): Show |
C | 1 | a0001c0007t0005g0030 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5212-1327_5212-131 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705771 | CAAAAAAA others(5): Show |
C | 38 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(35): Show |
38 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(35): Show |
intron_variant | MODIFIER | c.5212-1328_5212-131 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705771 | |||||||
chr12:119705956 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5212-1501C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119705956 | |||||||
chr12:119706089 | C | CA | 20 | a0001c0001t0001g0019 a0001c0001t0001g0224 a0001c0001t0021g0171 others(17): Show |
20 | HG00733.hp1 HG01168.hp2 HG02027.hp1 others(17): Show |
intron_variant | MODIFIER | c.5212-1635dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | |||||||
chr12:119706089 | C | CAA | 33 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(30): Show |
33 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(30): Show |
intron_variant | MODIFIER | c.5212-1636_5212-163 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | |||||||
chr12:119706089 | C | CAAA | 7 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(4): Show |
7 | HG02280.hp2 HG02886.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.5212-1637_5212-163 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706089 | |||||||
chr12:119706456 | C | T | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5211+1723G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706456 | |||||||
chr12:119706602 | T | TG | 6 | a0001c0003t0003g0182 a0001c0003t0003g0192 a0001c0003t0003g0208 others(3): Show |
6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.5211+1576dupC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706602 | |||||||
chr12:119706692 | T | C | 1 | a0001c0003t0003g0184 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.5211+1487A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706692 | |||||||
chr12:119706752 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5211+1427T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706752 | |||||||
chr12:119706765 | T | C | 42 | a0001c0001t0026g0233 a0001c0005t0008g0021 a0001c0005t0008g0022 others(39): Show |
42 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.5211+1414A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706765 | |||||||
chr12:119706789 | T | C | 1 | a0001c0003t0003g0182 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5211+1390A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119706789 | |||||||
chr12:119707049 | A | AACTG | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+1129_5211+113 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707049 | |||||||
chr12:119707201 | A | C | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5211+978T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707201 | |||||||
chr12:119707258 | T | G | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5211+921A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707258 | |||||||
chr12:119707423 | G | A | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.5211+756C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707423 | |||||||
chr12:119707524 | G | GT | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5211+654dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707524 | |||||||
chr12:119707691 | A | G | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+488T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707691 | |||||||
chr12:119707768 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5211+411C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707768 | |||||||
chr12:119707796 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.5211+383C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707796 | |||||||
chr12:119707806 | T | C | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5211+373A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707806 | |||||||
chr12:119707858 | C | G | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.5211+321G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119707858 | |||||||
chr12:119708034 | A | C | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5211+145T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119708034 | |||||||
chr12:119708048 | CA | C | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5211+130delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | 119708048 | |||||||
chr12:119708324 | C | A | 1 | a0001c0001t0003g0106 | 1 | HG03490.hp1 | splice_region_variant&intron_variant | LOW | c.5072-6G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708324 | |||||||
chr12:119708359 | G | A | 14 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5072-41C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708359 | |||||||
chr12:119708487 | T | A | 58 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(55): Show |
58 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.5072-169A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708487 | |||||||
chr12:119708496 | A | T | 3 | a0001c0003t0003g0127 a0001c0003t0003g0149 a0001c0029t0003g0187 |
3 | HG01109.hp2 HG03239.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.5072-178T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708496 | |||||||
chr12:119708547 | A | G | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.5072-229T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708547 | |||||||
chr12:119708774 | C | T | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5072-456G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119708774 | |||||||
chr12:119709019 | C | T | 1 | a0001c0003t0003g0086 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5072-701G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709019 | |||||||
chr12:119709023 | TCAGA | T | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.5072-709_5072-706d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709023 | |||||||
chr12:119709110 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.5072-792C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709110 | |||||||
chr12:119709120 | G | A | 3 | a0001c0003t0003g0127 a0001c0003t0003g0149 a0001c0003t0003g0205 |
3 | HG01109.hp2 HG03239.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.5072-802C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709120 | |||||||
chr12:119709160 | G | A | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5072-842C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709160 | |||||||
chr12:119709545 | C | T | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.5071+706G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709545 | |||||||
chr12:119709548 | C | T | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.5071+703G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709548 | |||||||
chr12:119709603 | C | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.5071+648G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709603 | |||||||
chr12:119709762 | A | G | 42 | a0001c0001t0003g0106 a0001c0005t0008g0021 a0001c0005t0008g0022 others(39): Show |
42 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.5071+489T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709762 | |||||||
chr12:119709764 | G | GAGAGAGA others(3): Show |
1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5071+486_5071+487i others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709764 | |||||||
chr12:119709766 | G | A | 1 | a0001c0001t0006g0124 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.5071+485C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709766 | |||||||
chr12:119709770 | G | GAGAA | 4 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0220 others(1): Show |
4 | HG02559.hp2 HG02970.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.5071+480_5071+481i others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709770 | |||||||
chr12:119709772 | G | GAA | 3 | a0002c0004t0011g0162 a0002c0016t0001g0014 a0002c0016t0001g0061 |
3 | HG02647.hp2 HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.5071+478_5071+479i others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709772 | |||||||
chr12:119709774 | G | A | 29 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(26): Show |
29 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.5071+477C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709774 | |||||||
chr12:119709785 | AGAGTGT | A | 2 | a0001c0001t0001g0034 a0001c0001t0005g0020 |
2 | HG03579.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5071+460_5071+465d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | |||||||
chr12:119709785 | AGAGTGTG others(3): Show |
A | 2 | a0001c0001t0008g0134 a0001c0001t0021g0171 |
2 | HG01106.hp1 HG02027.hp1 |
intron_variant | MODIFIER | c.5071+456_5071+465d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | |||||||
chr12:119709785 | AGAGTGTG others(7): Show |
A | 3 | a0001c0002t0002g0102 a0001c0010t0002g0103 a0001c0010t0002g0113 |
3 | NA18991.hp1 NA19010.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5071+452_5071+465d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709785 | |||||||
chr12:119709787 | AGT | A | 6 | a0001c0001t0004g0161 a0001c0002t0002g0076 a0001c0002t0002g0092 others(3): Show |
6 | HG00741.hp2 HG02451.hp2 NA18984.hp2 others(3): Show |
intron_variant | MODIFIER | c.5071+462_5071+463d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGT | A | 27 | a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0147 others(24): Show |
27 | HG01169.hp1 HG01243.hp1 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.5071+460_5071+463d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGT | A | 43 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(40): Show |
43 | HG00597.hp1 HG00597.hp2 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.5071+458_5071+463d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(1): Show |
A | 62 | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0047 others(59): Show |
62 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(59): Show |
intron_variant | MODIFIER | c.5071+456_5071+463d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(3): Show |
A | 45 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(42): Show |
45 | HG00280.hp1 HG00408.hp1 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.5071+454_5071+463d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(5): Show |
A | 4 | a0001c0002t0002g0066 a0001c0003t0003g0193 a0001c0003t0005g0186 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.5071+452_5071+463d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(7): Show |
A | 2 | a0001c0003t0003g0197 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.5071+450_5071+463d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(13): Show |
A | 7 | a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 others(4): Show |
7 | HG00733.hp1 NA18969.hp1 NA18973.hp1 others(4): Show |
intron_variant | MODIFIER | c.5071+444_5071+463d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(15): Show |
A | 5 | a0001c0006t0027g0234 a0001c0008t0001g0210 a0001c0008t0001g0211 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.5071+442_5071+463d others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709787 | AGTGTGTG others(17): Show |
A | 2 | a0001c0006t0001g0131 a0001c0006t0001g0135 |
2 | NA18971.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.5071+440_5071+463d others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709787 | |||||||
chr12:119709789 | T | A | 23 | a0001c0001t0001g0200 a0001c0007t0005g0030 a0001c0007t0005g0062 others(20): Show |
23 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(20): Show |
intron_variant | MODIFIER | c.5071+462A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709789 | |||||||
chr12:119709791 | T | A | 26 | a0001c0001t0004g0161 a0001c0002t0002g0076 a0001c0002t0002g0092 others(23): Show |
26 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(23): Show |
intron_variant | MODIFIER | c.5071+460A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709791 | |||||||
chr12:119709793 | T | A | 43 | a0001c0001t0001g0144 a0001c0001t0001g0179 a0001c0001t0002g0095 others(40): Show |
43 | HG01168.hp1 HG01169.hp1 HG01169.hp2 others(40): Show |
intron_variant | MODIFIER | c.5071+458A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709793 | |||||||
chr12:119709795 | T | A | 78 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(75): Show |
78 | HG00597.hp1 HG00597.hp2 HG01167.hp1 others(75): Show |
intron_variant | MODIFIER | c.5071+456A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709795 | |||||||
chr12:119709797 | T | A | 72 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 others(69): Show |
72 | HG00408.hp2 HG00735.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.5071+454A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709797 | |||||||
chr12:119709799 | T | A | 92 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(89): Show |
92 | HG00280.hp1 HG00408.hp1 HG00735.hp2 others(89): Show |
intron_variant | MODIFIER | c.5071+452A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709799 | |||||||
chr12:119709801 | T | A | 41 | a0001c0002t0002g0066 a0001c0003t0003g0080 a0001c0003t0003g0086 others(38): Show |
41 | HG00735.hp2 HG01081.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.5071+450A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709801 | |||||||
chr12:119709803 | T | A | 30 | a0001c0003t0005g0186 a0001c0005t0008g0021 a0001c0005t0008g0022 others(27): Show |
30 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.5071+448A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709803 | |||||||
chr12:119709805 | T | A | 24 | a0001c0005t0008g0215 a0001c0009t0009g0036 a0001c0009t0009g0039 others(21): Show |
24 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.5071+446A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709805 | |||||||
chr12:119709807 | T | A | 8 | a0001c0005t0008g0215 a0001c0009t0009g0036 a0001c0009t0009g0039 others(5): Show |
8 | HG01106.hp2 HG02630.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.5071+444A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709807 | |||||||
chr12:119709809 | T | A | 10 | a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 others(7): Show |
10 | HG00733.hp1 HG02717.hp1 HG03130.hp1 others(7): Show |
intron_variant | MODIFIER | c.5071+442A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709809 | |||||||
chr12:119709811 | T | A | 14 | a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.5071+440A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709811 | |||||||
chr12:119709813 | T | A | 16 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(13): Show |
16 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.5071+438A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709813 | |||||||
chr12:119709815 | T | A | 15 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(12): Show |
15 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.5071+436A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119709815 | |||||||
chr12:119710187 | C | T | 4 | a0001c0003t0003g0198 a0001c0017t0003g0012 a0001c0017t0003g0013 others(1): Show |
4 | HG02559.hp1 HG03209.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.5071+64G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119710187 | |||||||
chr12:119710188 | G | A | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5071+63C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | 119710188 | |||||||
chr12:119710430 | G | A | 1 | a0001c0005t0008g0085 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.4936-44C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710430 | |||||||
chr12:119710499 | T | C | 3 | a0001c0003t0003g0208 a0001c0003t0003g0213 a0001c0003t0017g0060 |
3 | HG01243.hp1 HG02451.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.4935+41A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710499 | |||||||
chr12:119710521 | G | A | 14 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4935+19C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 38/47 | chr12 | 119710521 | |||||||
chr12:119710676 | A | G | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.4855-56T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119710676 | |||||||
chr12:119711263 | A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4855-643T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711263 | |||||||
chr12:119711281 | G | A | 6 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 others(3): Show |
6 | HG01106.hp2 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.4855-661C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711281 | |||||||
chr12:119711467 | G | A | 14 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4854+711C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711467 | |||||||
chr12:119711479 | G | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4854+699C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711479 | |||||||
chr12:119711513 | T | C | 1 | a0001c0002t0002g0088 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4854+665A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711513 | |||||||
chr12:119711668 | C | T | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4854+510G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711668 | |||||||
chr12:119711753 | A | G | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4854+425T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711753 | |||||||
chr12:119711758 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4854+420C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711758 | |||||||
chr12:119711937 | A | G | 14 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0001g0146 others(11): Show |
14 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.4854+241T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119711937 | |||||||
chr12:119712044 | G | C | 41 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(38): Show |
41 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(38): Show |
intron_variant | MODIFIER | c.4854+134C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712044 | |||||||
chr12:119712096 | A | G | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4854+82T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712096 | |||||||
chr12:119712110 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4854+68G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712110 | |||||||
chr12:119712141 | T | TA | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.4854+36dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 37/47 | chr12 | 119712141 | |||||||
chr12:119712391 | C | T | 35 | a0001c0001t0003g0106 a0001c0002t0014g0235 a0001c0002t0014g0236 others(32): Show |
35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.4685-44G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 36/47 | chr12 | 119712391 | |||||||
chr12:119712757 | A | G | 3 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 |
3 | HG02257.hp2 HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.4580-62T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119712757 | |||||||
chr12:119712941 | T | C | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4580-246A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119712941 | |||||||
chr12:119713099 | T | C | 55 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4579+104A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119713099 | |||||||
chr12:119713173 | A | G | 3 | a0001c0001t0001g0133 a0001c0001t0002g0105 a0001c0001t0025g0107 |
3 | NA18747.hp1 NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.4579+30T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 35/47 | chr12 | 119713173 | |||||||
chr12:119713366 | G | C | 39 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(36): Show |
39 | HG01106.hp2 HG01109.hp1 HG01168.hp1 others(36): Show |
intron_variant | MODIFIER | c.4488-72C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713366 | |||||||
chr12:119713393 | C | T | 2 | a0001c0009t0009g0039 a0001c0009t0009g0043 |
2 | HG02630.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4487+75G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713393 | |||||||
chr12:119713397 | C | T | 1 | a0001c0003t0003g0177 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.4487+71G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 34/47 | chr12 | 119713397 | |||||||
chr12:119713688 | T | C | 53 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(50): Show |
53 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.4307-40A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713688 | |||||||
chr12:119713688 | T | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4307-40A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713688 | |||||||
chr12:119713696 | G | A | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.4307-48C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713696 | |||||||
chr12:119713776 | G | A | 1 | a0001c0003t0003g0182 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4307-128C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713776 | |||||||
chr12:119713910 | G | A | 2 | a0001c0006t0012g0115 a0001c0006t0012g0128 |
2 | NA18973.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.4307-262C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 33/47 | chr12 | 119713910 | |||||||
chr12:119714401 | C | A | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4169-67G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714401 | |||||||
chr12:119714409 | A | G | 1 | a0001c0002t0002g0089 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.4169-75T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714409 | |||||||
chr12:119714595 | C | T | 55 | a0001c0001t0001g0008 a0001c0002t0002g0099 a0001c0005t0008g0021 others(52): Show |
55 | HG00733.hp1 HG01106.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.4169-261G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714595 | |||||||
chr12:119714635 | C | T | 13 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(10): Show |
13 | HG00733.hp1 HG01934.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.4169-301G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714635 | |||||||
chr12:119714663 | G | A | 1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4169-329C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714663 | |||||||
chr12:119714845 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4169-511G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714845 | |||||||
chr12:119714916 | G | A | 19 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0137 others(16): Show |
19 | HG00733.hp1 HG01934.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.4169-582C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714916 | |||||||
chr12:119714938 | C | T | 60 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0137 others(57): Show |
60 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(57): Show |
intron_variant | MODIFIER | c.4169-604G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119714938 | |||||||
chr12:119715031 | A | C | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.4169-697T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715031 | |||||||
chr12:119715146 | C | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4169-812G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715146 | |||||||
chr12:119715147 | G | A | 1 | a0001c0005t0008g0215 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4169-813C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715147 | |||||||
chr12:119715415 | G | A | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4169-1081C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715415 | |||||||
chr12:119715586 | G | C | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4169-1252C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715586 | |||||||
chr12:119715708 | T | C | 17 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(14): Show |
17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4169-1374A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715708 | |||||||
chr12:119715775 | T | C | 2 | a0001c0001t0005g0020 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4169-1441A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715775 | |||||||
chr12:119715889 | A | T | 2 | a0001c0002t0013g0048 a0001c0002t0013g0071 |
2 | HG00738.hp1 HG00741.hp1 |
intron_variant | MODIFIER | c.4169-1555T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715889 | |||||||
chr12:119715943 | A | G | 20 | a0001c0001t0001g0008 a0001c0003t0003g0024 a0001c0003t0003g0026 others(17): Show |
20 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(17): Show |
intron_variant | MODIFIER | c.4169-1609T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119715943 | |||||||
chr12:119716100 | G | T | 22 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(19): Show |
22 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.4169-1766C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716100 | |||||||
chr12:119716151 | G | C | 3 | a0001c0006t0012g0141 a0001c0006t0012g0158 a0001c0006t0024g0112 |
3 | NA18969.hp1 NA18991.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.4169-1817C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716151 | |||||||
chr12:119716193 | C | T | 1 | a0001c0001t0001g0145 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.4169-1859G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716193 | |||||||
chr12:119716208 | T | C | 10 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(7): Show |
10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.4169-1874A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716208 | |||||||
chr12:119716363 | A | G | 15 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(12): Show |
15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+1882T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716363 | |||||||
chr12:119716378 | C | CA | 15 | a0001c0001t0002g0095 a0001c0002t0001g0087 a0001c0002t0002g0066 others(12): Show |
15 | HG00280.hp1 HG01106.hp2 HG02523.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+1866dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | C | CAA | 25 | a0001c0002t0001g0070 a0001c0002t0002g0065 a0001c0002t0002g0074 others(22): Show |
25 | HG00741.hp1 HG01069.hp1 HG01515.hp1 others(22): Show |
intron_variant | MODIFIER | c.4168+1865_4168+186 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | C | CAAA | 24 | a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0096 others(21): Show |
24 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.4168+1864_4168+186 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | C | CAAAAA | 6 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(3): Show |
6 | HG02717.hp1 HG03130.hp1 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+1862_4168+186 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | C | CAAAAAAA others(4): Show |
2 | a0001c0001t0005g0020 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4168+1856_4168+186 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA | C | 16 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | HG00741.hp2 HG01106.hp1 HG02027.hp1 others(13): Show |
intron_variant | MODIFIER | c.4168+1860_4168+186 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(1): Show |
C | 81 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(78): Show |
81 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.4168+1859_4168+186 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(3): Show |
C | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.4168+1857_4168+186 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(4): Show |
C | 26 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(23): Show |
26 | HG01109.hp1 HG01169.hp2 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.4168+1856_4168+186 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(5): Show |
C | 1 | a0002c0004t0011g0038 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.4168+1855_4168+186 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(7): Show |
C | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.4168+1853_4168+186 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716378 | CAAAAAAA others(8): Show |
C | 4 | a0001c0006t0012g0128 a0001c0006t0012g0141 a0001c0006t0012g0158 others(1): Show |
4 | NA18969.hp1 NA18991.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.4168+1852_4168+186 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716378 | |||||||
chr12:119716449 | C | T | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.4168+1796G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119716449 | |||||||
chr12:119717272 | G | A | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.4168+973C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717272 | |||||||
chr12:119717414 | C | CT | 3 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.4168+830dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717414 | C | CTT | 32 | a0001c0001t0001g0097 a0001c0001t0001g0174 a0001c0001t0001g0202 others(29): Show |
32 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.4168+829_4168+830d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717414 | C | CTTT | 33 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0100 others(30): Show |
33 | HG00597.hp1 HG00597.hp2 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.4168+828_4168+830d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717414 | C | CTTTT | 7 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0004g0161 others(4): Show |
7 | HG02015.hp2 HG02027.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.4168+827_4168+830d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717414 | CTTTTCTT | C | 7 | a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 others(4): Show |
7 | HG02165.hp2 NA18747.hp1 NA18939.hp1 others(4): Show |
intron_variant | MODIFIER | c.4168+824_4168+830d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717414 | CTTTTCTT others(1): Show |
C | 53 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(50): Show |
53 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(50): Show |
intron_variant | MODIFIER | c.4168+823_4168+830d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717414 | |||||||
chr12:119717418 | TC | T | 2 | a0001c0001t0001g0142 a0001c0001t0004g0166 |
2 | NA18983.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.4168+826delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717418 | |||||||
chr12:119717419 | C | CTTT | 6 | a0001c0001t0005g0020 a0001c0005t0010g0042 a0001c0005t0010g0216 others(3): Show |
6 | HG02886.hp1 HG02895.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+823_4168+825d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717419 | |||||||
chr12:119717419 | C | T | 77 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 others(74): Show |
77 | HG00597.hp1 HG00597.hp2 HG00733.hp1 others(74): Show |
intron_variant | MODIFIER | c.4168+826G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717419 | |||||||
chr12:119717422 | T | C | 1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.4168+823A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717422 | |||||||
chr12:119717424 | T | C | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.4168+821A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717424 | |||||||
chr12:119717476 | A | C | 22 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(19): Show |
22 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.4168+769T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717476 | |||||||
chr12:119717501 | A | G | 17 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(14): Show |
17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4168+744T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717501 | |||||||
chr12:119717606 | A | G | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.4168+639T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717606 | |||||||
chr12:119717639 | T | C | 2 | a0001c0006t0012g0115 a0001c0006t0012g0128 |
2 | NA18973.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.4168+606A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717639 | |||||||
chr12:119717691 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4168+554C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717691 | |||||||
chr12:119717755 | T | C | 1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.4168+490A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717755 | |||||||
chr12:119717772 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.4168+473C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717772 | |||||||
chr12:119717830 | A | ACTGACTT | 13 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(10): Show |
13 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.4168+414_4168+415i others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717830 | |||||||
chr12:119717831 | C | CTGACTTC others(1): Show |
2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4168+413_4168+414i others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717831 | |||||||
chr12:119717834 | C | CTTTTTTT others(8): Show |
5 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(2): Show |
5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.4168+410_4168+411i others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717834 | |||||||
chr12:119717834 | C | T | 15 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(12): Show |
15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4168+411G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717834 | |||||||
chr12:119717837 | TC | T | 2 | a0001c0005t0010g0216 a0001c0005t0010g0217 |
2 | HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4168+407delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717837 | |||||||
chr12:119717838 | C | CTTTCTTT others(11): Show |
1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.4168+406_4168+407i others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTT | 18 | a0001c0001t0004g0169 a0001c0007t0005g0030 a0001c0007t0005g0062 others(15): Show |
18 | HG01109.hp1 HG01169.hp2 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.4168+403_4168+406d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(3): Show |
2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4168+397_4168+406d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(6): Show |
1 | a0001c0001t0002g0105 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.4168+394_4168+406d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(10): Show |
24 | a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0121 others(21): Show |
24 | HG00408.hp2 HG00733.hp2 HG01257.hp1 others(21): Show |
intron_variant | MODIFIER | c.4168+390_4168+406d others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(11): Show |
32 | a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0114 others(29): Show |
32 | HG00280.hp2 HG00735.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.4168+389_4168+406d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(12): Show |
21 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0100 others(18): Show |
21 | HG00597.hp1 HG00597.hp2 HG01168.hp2 others(18): Show |
intron_variant | MODIFIER | c.4168+388_4168+406d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(13): Show |
13 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(10): Show |
13 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(10): Show |
intron_variant | MODIFIER | c.4168+387_4168+406d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(14): Show |
2 | a0001c0001t0001g0019 a0001c0001t0021g0171 |
2 | HG02027.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.4168+406_4168+407i others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(15): Show |
1 | a0001c0001t0001g0016 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.4168+406_4168+407i others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | CTTTTTTT others(16): Show |
1 | a0001c0001t0001g0015 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4168+406_4168+407i others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | C | T | 21 | a0001c0001t0001g0008 a0001c0005t0008g0021 a0001c0005t0008g0022 others(18): Show |
21 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(18): Show |
intron_variant | MODIFIER | c.4168+407G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | CT | C | 6 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(3): Show |
6 | HG01069.hp1 HG02293.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.4168+406delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717838 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4168+395_4168+406d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717838 | |||||||
chr12:119717862 | A | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.4168+383T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717862 | |||||||
chr12:119717903 | G | A | 10 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(7): Show |
10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.4168+342C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717903 | |||||||
chr12:119717904 | C | G | 1 | a0002c0004t0007g0054 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4168+341G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717904 | |||||||
chr12:119717910 | C | T | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.4168+335G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717910 | |||||||
chr12:119717926 | C | T | 109 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(106): Show |
109 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(106): Show |
intron_variant | MODIFIER | c.4168+319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119717926 | |||||||
chr12:119718020 | A | G | 17 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(14): Show |
17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.4168+225T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718020 | |||||||
chr12:119718080 | T | C | 1 | a0001c0006t0027g0234 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4168+165A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718080 | |||||||
chr12:119718186 | T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4168+59A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718186 | |||||||
chr12:119718196 | C | T | 10 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(7): Show |
10 | HG00733.hp1 HG01934.hp2 NA18969.hp1 others(7): Show |
intron_variant | MODIFIER | c.4168+49G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | 119718196 | |||||||
chr12:119718472 | C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4004-63G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 31/47 | chr12 | 119718472 | |||||||
chr12:119718603 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.4003+96C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 31/47 | chr12 | 119718603 | |||||||
chr12:119719064 | C | T | 1 | a0001c0009t0009g0039 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3841-203G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719064 | |||||||
chr12:119719404 | C | T | 2 | a0001c0001t0002g0120 a0001c0001t0002g0143 |
2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.3841-543G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719404 | |||||||
chr12:119719540 | C | A | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.3841-679G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719540 | |||||||
chr12:119719755 | G | A | 1 | a0001c0001t0001g0152 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3840+723C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719755 | |||||||
chr12:119719851 | G | T | 1 | a0001c0002t0014g0235 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.3840+627C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119719851 | |||||||
chr12:119720083 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3840+395C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720083 | |||||||
chr12:119720091 | TG | T | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3840+386delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720091 | |||||||
chr12:119720398 | C | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3840+80G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 30/47 | chr12 | 119720398 | |||||||
chr12:119720623 | C | T | 1 | a0001c0008t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3733-38G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720623 | |||||||
chr12:119720708 | A | C | 15 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(12): Show |
15 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.3733-123T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720708 | |||||||
chr12:119720715 | A | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.3733-130T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720715 | |||||||
chr12:119720724 | G | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3733-139C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720724 | |||||||
chr12:119720736 | G | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3733-151C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720736 | |||||||
chr12:119720966 | T | A | 10 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(7): Show |
10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3732+343A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119720966 | |||||||
chr12:119721060 | G | A | 5 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(2): Show |
5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3732+249C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721060 | |||||||
chr12:119721074 | C | T | 1 | a0001c0001t0004g0156 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.3732+235G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721074 | |||||||
chr12:119721123 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3732+186G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 29/47 | chr12 | 119721123 | |||||||
chr12:119721640 | A | T | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3592-191T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119721640 | |||||||
chr12:119721993 | A | G | 2 | a0001c0001t0005g0020 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3592-544T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119721993 | |||||||
chr12:119722010 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3592-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722010 | |||||||
chr12:119722116 | C | G | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.3592-667G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722116 | |||||||
chr12:119722168 | G | A | 1 | a0001c0002t0002g0078 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.3592-719C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722168 | |||||||
chr12:119722317 | G | A | 121 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(118): Show |
121 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(118): Show |
intron_variant | MODIFIER | c.3592-868C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119722317 | |||||||
chr12:119723077 | TA | T | 150 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(147): Show |
150 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(147): Show |
intron_variant | MODIFIER | c.3592-1629delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723077 | |||||||
chr12:119723078 | A | T | 2 | a0001c0010t0002g0103 a0001c0010t0002g0113 |
2 | NA18991.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.3592-1629T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723078 | |||||||
chr12:119723343 | C | T | 2 | a0001c0003t0003g0024 a0001c0003t0003g0026 |
2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3592-1894G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723343 | |||||||
chr12:119723382 | T | C | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3592-1933A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723382 | |||||||
chr12:119723395 | AT | A | 12 | a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0137 others(9): Show |
12 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.3592-1947delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723395 | |||||||
chr12:119723396 | T | TA | 2 | a0002c0004t0011g0162 a0002c0004t0019g0051 |
2 | HG02965.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3592-1948_3592-194 others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | |||||||
chr12:119723396 | TTA | T | 120 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(117): Show |
120 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(117): Show |
intron_variant | MODIFIER | c.3592-1949_3592-194 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | |||||||
chr12:119723396 | TTAA | T | 3 | a0001c0001t0003g0106 a0004c0019t0003g0002 a0004c0019t0003g0231 |
3 | HG02717.hp1 HG03130.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.3592-1950_3592-194 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723396 | |||||||
chr12:119723397 | T | A | 13 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.3592-1948A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723397 | |||||||
chr12:119723419 | T | C | 2 | a0001c0003t0003g0127 a0001c0003t0003g0149 |
2 | HG01109.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.3592-1970A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723419 | |||||||
chr12:119723516 | G | A | 151 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(148): Show |
151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.3592-2067C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723516 | |||||||
chr12:119723596 | T | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(96): Show |
99 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(96): Show |
intron_variant | MODIFIER | c.3592-2147A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723596 | |||||||
chr12:119723688 | T | C | 3 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3592-2239A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119723688 | |||||||
chr12:119724013 | G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3592-2564C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724013 | |||||||
chr12:119724015 | G | A | 17 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(14): Show |
17 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(14): Show |
intron_variant | MODIFIER | c.3592-2566C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724015 | |||||||
chr12:119724108 | G | A | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3592-2659C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724108 | |||||||
chr12:119724163 | G | C | 2 | a0001c0003t0003g0037 a0001c0003t0003g0040 |
2 | HG02451.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3592-2714C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724163 | |||||||
chr12:119724171 | T | C | 3 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3592-2722A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724171 | |||||||
chr12:119724393 | T | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(148): Show |
151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.3592-2944A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724393 | |||||||
chr12:119724394 | G | A | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.3592-2945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724394 | |||||||
chr12:119724523 | G | T | 4 | a0002c0004t0007g0033 a0002c0004t0007g0053 a0002c0004t0007g0055 others(1): Show |
4 | HG02280.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.3592-3074C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724523 | |||||||
chr12:119724541 | G | A | 39 | a0001c0002t0001g0087 a0001c0002t0002g0081 a0001c0002t0002g0088 others(36): Show |
39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.3592-3092C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724541 | |||||||
chr12:119724641 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3592-3192G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724641 | |||||||
chr12:119724677 | C | T | 1 | a0001c0001t0001g0195 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.3592-3228G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724677 | |||||||
chr12:119724763 | C | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3592-3314G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724763 | |||||||
chr12:119724812 | A | G | 191 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(188): Show |
191 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(188): Show |
intron_variant | MODIFIER | c.3592-3363T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724812 | |||||||
chr12:119724829 | C | T | 1 | a0001c0005t0008g0022 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3592-3380G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724829 | |||||||
chr12:119724910 | G | A | 1 | a0001c0001t0001g0152 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3592-3461C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724910 | |||||||
chr12:119724914 | G | C | 1 | a0001c0001t0025g0107 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3592-3465C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724914 | |||||||
chr12:119724930 | C | CA | 86 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(83): Show |
86 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.3592-3482dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | |||||||
chr12:119724930 | C | CAA | 18 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0117 others(15): Show |
18 | HG00735.hp1 HG01069.hp2 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.3592-3483_3592-348 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | |||||||
chr12:119724930 | CA | C | 49 | a0001c0001t0002g0095 a0001c0001t0005g0020 a0001c0002t0001g0070 others(46): Show |
49 | HG00408.hp1 HG01069.hp1 HG01081.hp2 others(46): Show |
intron_variant | MODIFIER | c.3592-3482delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | |||||||
chr12:119724930 | CAA | C | 17 | a0001c0001t0001g0008 a0001c0002t0002g0099 a0001c0002t0002g0155 others(14): Show |
17 | HG00733.hp1 HG01515.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.3592-3483_3592-348 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | |||||||
chr12:119724930 | CAAAAAAA others(11): Show |
C | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3592-3499_3592-348 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119724930 | |||||||
chr12:119725034 | T | C | 10 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(7): Show |
10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3591+3468A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725034 | |||||||
chr12:119725318 | C | T | 30 | a0001c0002t0001g0087 a0001c0002t0002g0081 a0001c0002t0002g0088 others(27): Show |
30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3591+3184G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725318 | |||||||
chr12:119725383 | G | A | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+3119C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725383 | |||||||
chr12:119725469 | C | T | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3591+3033G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725469 | |||||||
chr12:119725932 | C | A | 1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.3591+2570G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725932 | |||||||
chr12:119725960 | T | A | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3591+2542A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119725960 | |||||||
chr12:119726011 | C | CGT | 5 | a0001c0001t0005g0020 a0001c0003t0003g0080 a0001c0011t0009g0191 others(2): Show |
5 | HG01106.hp2 HG02109.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+2489_3591+249 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(1): Show |
6 | a0002c0004t0003g0044 a0002c0004t0011g0035 a0002c0004t0011g0038 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3591+2483_3591+249 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(3): Show |
1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3591+2481_3591+249 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(5): Show |
8 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(5): Show |
8 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.3591+2479_3591+249 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(7): Show |
12 | a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 others(9): Show |
12 | HG00733.hp1 HG01109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.3591+2477_3591+249 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(9): Show |
8 | a0001c0006t0001g0131 a0001c0006t0001g0135 a0001c0006t0027g0234 others(5): Show |
8 | HG02630.hp1 HG02717.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.3591+2475_3591+249 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | C | CGTGTGTG others(11): Show |
3 | a0001c0007t0005g0030 a0001c0007t0005g0228 a0001c0028t0003g0229 |
3 | HG06807.hp1 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3591+2473_3591+249 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | CGT | C | 3 | a0001c0001t0001g0202 a0001c0023t0004g0059 a0001c0026t0002g0154 |
3 | NA18984.hp1 NA18984.hp2 NA19089.hp2 |
intron_variant | MODIFIER | c.3591+2489_3591+249 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | CGTGT | C | 104 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(101): Show |
104 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.3591+2487_3591+249 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726011 | CGTGTGT | C | 3 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 |
3 | NA18966.hp2 NA18969.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.3591+2485_3591+249 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726011 | |||||||
chr12:119726035 | T | TGTGTGTG others(8): Show |
1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3591+2466_3591+246 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726035 | |||||||
chr12:119726039 | G | A | 1 | a0001c0002t0002g0074 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.3591+2463C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726039 | |||||||
chr12:119726124 | T | G | 1 | a0001c0001t0001g0129 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3591+2378A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726124 | |||||||
chr12:119726154 | G | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.3591+2348C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726154 | |||||||
chr12:119726290 | C | T | 1 | a0001c0012t0002g0101 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3591+2212G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726290 | |||||||
chr12:119726378 | T | C | 99 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(96): Show |
99 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(96): Show |
intron_variant | MODIFIER | c.3591+2124A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726378 | |||||||
chr12:119726385 | A | AT | 15 | a0001c0001t0001g0122 a0001c0001t0001g0180 a0001c0002t0002g0066 others(12): Show |
15 | HG01106.hp2 HG01169.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.3591+2116dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726385 | A | ATT | 89 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show |
89 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(86): Show |
intron_variant | MODIFIER | c.3591+2115_3591+211 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726385 | A | ATTT | 33 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0047 others(30): Show |
33 | HG00280.hp2 HG00733.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.3591+2114_3591+211 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726385 | AT | A | 9 | a0001c0002t0002g0227 a0001c0003t0003g0184 a0001c0007t0005g0030 others(6): Show |
9 | HG01081.hp2 HG01109.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.3591+2116delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726385 | ATT | A | 9 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0181 others(6): Show |
9 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.3591+2115_3591+211 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726385 | ATTTTTTT others(8): Show |
A | 1 | a0001c0005t0008g0085 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.3591+2102_3591+211 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726385 | |||||||
chr12:119726459 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3591+2043A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726459 | |||||||
chr12:119726478 | C | T | 131 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(128): Show |
131 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(128): Show |
intron_variant | MODIFIER | c.3591+2024G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726478 | |||||||
chr12:119726621 | C | T | 10 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(7): Show |
10 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.3591+1881G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726621 | |||||||
chr12:119726685 | G | C | 18 | a0001c0001t0015g0094 a0002c0004t0003g0044 a0002c0004t0007g0033 others(15): Show |
18 | HG01168.hp1 HG01169.hp2 HG01928.hp2 others(15): Show |
intron_variant | MODIFIER | c.3591+1817C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726685 | |||||||
chr12:119726837 | G | A | 5 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(2): Show |
5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3591+1665C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726837 | |||||||
chr12:119726959 | A | G | 1 | a0001c0001t0001g0130 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3591+1543T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726959 | |||||||
chr12:119726968 | A | C | 1 | a0001c0001t0002g0095 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.3591+1534T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119726968 | |||||||
chr12:119727264 | C | T | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3591+1238G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727264 | |||||||
chr12:119727275 | T | C | 1 | a0001c0002t0002g0136 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.3591+1227A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727275 | |||||||
chr12:119727350 | A | G | 133 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(130): Show |
133 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(130): Show |
intron_variant | MODIFIER | c.3591+1152T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727350 | |||||||
chr12:119727377 | C | G | 124 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(121): Show |
124 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(121): Show |
intron_variant | MODIFIER | c.3591+1125G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727377 | |||||||
chr12:119727526 | A | G | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3591+976T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727526 | |||||||
chr12:119727530 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3591+972C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727530 | |||||||
chr12:119727569 | C | T | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3591+933G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727569 | |||||||
chr12:119727639 | T | A | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3591+863A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727639 | |||||||
chr12:119727753 | AC | A | 7 | a0001c0003t0003g0080 a0001c0003t0003g0182 a0001c0003t0003g0192 others(4): Show |
7 | HG01243.hp1 HG02109.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.3591+748delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727753 | |||||||
chr12:119727781 | T | C | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3591+721A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727781 | |||||||
chr12:119727793 | G | A | 39 | a0001c0001t0002g0095 a0001c0002t0001g0070 a0001c0002t0001g0087 others(36): Show |
39 | HG00408.hp1 HG01515.hp1 HG02015.hp1 others(36): Show |
intron_variant | MODIFIER | c.3591+709C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727793 | |||||||
chr12:119727827 | G | A | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3591+675C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727827 | |||||||
chr12:119727922 | C | CA | 6 | a0001c0006t0027g0234 a0001c0009t0009g0036 a0001c0009t0009g0039 others(3): Show |
6 | HG02630.hp1 HG02809.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3591+579dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727922 | |||||||
chr12:119727922 | CA | C | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3591+579delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | 119727922 | |||||||
chr12:119728645 | G | C | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-39C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728645 | |||||||
chr12:119728691 | G | A | 3 | a0001c0001t0005g0020 a0001c0013t0005g0029 a0001c0030t0005g0032 |
3 | HG02895.hp2 HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3487-85C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728691 | |||||||
chr12:119728692 | G | A | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-86C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728692 | |||||||
chr12:119728805 | T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.3487-199A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728805 | |||||||
chr12:119728913 | C | T | 10 | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(7): Show |
10 | HG00733.hp1 HG01934.hp2 NA18969.hp1 others(7): Show |
intron_variant | MODIFIER | c.3487-307G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728913 | |||||||
chr12:119728982 | G | C | 2 | a0001c0001t0002g0120 a0001c0001t0002g0143 |
2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.3487-376C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119728982 | |||||||
chr12:119729350 | C | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3487-744G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729350 | |||||||
chr12:119729367 | T | C | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3487-761A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729367 | |||||||
chr12:119729446 | TATA | T | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3487-843_3487-841d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729446 | |||||||
chr12:119729840 | T | C | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3486+655A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729840 | |||||||
chr12:119729972 | T | C | 4 | a0001c0001t0001g0142 a0001c0001t0004g0150 a0001c0001t0004g0166 others(1): Show |
4 | NA18973.hp2 NA18983.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.3486+523A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119729972 | |||||||
chr12:119730099 | C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3486+396G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730099 | |||||||
chr12:119730107 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3486+388C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730107 | |||||||
chr12:119730455 | G | A | 1 | a0001c0002t0002g0089 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.3486+40C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 27/47 | chr12 | 119730455 | |||||||
chr12:119730715 | G | A | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-85C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119730715 | |||||||
chr12:119731119 | T | C | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-489A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731119 | |||||||
chr12:119731121 | G | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.3351-491C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731121 | |||||||
chr12:119731203 | A | G | 21 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(18): Show |
21 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.3351-573T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731203 | |||||||
chr12:119731213 | G | A | 6 | a0001c0003t0003g0182 a0001c0003t0003g0192 a0001c0003t0003g0208 others(3): Show |
6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.3351-583C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731213 | |||||||
chr12:119731405 | GGCAGAGT others(23): Show |
G | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-805_3351-776d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731405 | |||||||
chr12:119731436 | C | T | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-806G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731436 | |||||||
chr12:119731438 | G | C | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-808C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731438 | |||||||
chr12:119731439 | C | A | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.3351-809G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731439 | |||||||
chr12:119731456 | C | T | 3 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3351-826G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731456 | |||||||
chr12:119731475 | CA | C | 125 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(122): Show |
125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.3351-846delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731475 | |||||||
chr12:119731733 | A | G | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.3351-1103T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731733 | |||||||
chr12:119731813 | A | AATATATA others(5): Show |
3 | a0001c0007t0005g0218 a0001c0007t0005g0219 a0001c0007t0005g0220 |
3 | HG01109.hp1 HG02257.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.3351-1184_3351-118 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731813 | A | AATATATA others(7): Show |
3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3351-1184_3351-118 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731813 | AAT | A | 73 | a0001c0001t0002g0095 a0001c0002t0001g0070 a0001c0002t0001g0087 others(70): Show |
73 | HG00280.hp1 HG00408.hp1 HG00735.hp2 others(70): Show |
intron_variant | MODIFIER | c.3351-1185_3351-118 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731813 | AATAT | A | 4 | a0001c0001t0005g0020 a0001c0003t0003g0192 a0001c0013t0005g0029 others(1): Show |
4 | HG02895.hp2 HG03098.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3351-1187_3351-118 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731813 | AATATAT | A | 3 | a0001c0001t0001g0178 a0001c0028t0003g0229 a0002c0016t0001g0061 |
3 | HG02818.hp1 HG03017.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3351-1189_3351-118 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731813 | AATATATA others(1): Show |
A | 124 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(121): Show |
intron_variant | MODIFIER | c.3351-1191_3351-118 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731813 | |||||||
chr12:119731840 | A | ATATATAT others(2): Show |
2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(6): Show |
4 | a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0054 others(1): Show |
4 | HG02258.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(8): Show |
2 | a0002c0004t0003g0044 a0002c0004t0011g0056 |
2 | HG02622.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(12): Show |
2 | a0002c0004t0011g0035 a0002c0004t0011g0038 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(16): Show |
2 | a0002c0004t0007g0053 a0002c0004t0019g0051 |
2 | HG02280.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.3351-1211_3351-121 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(20): Show |
1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(22): Show |
1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(33): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731840 | A | ATATATAT others(38): Show |
1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3351-1211_3351-121 others(49): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731840 | |||||||
chr12:119731841 | C | T | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3351-1211G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731841 | |||||||
chr12:119731842 | T | C | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3351-1212A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731842 | |||||||
chr12:119731846 | T | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3351-1216A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731846 | |||||||
chr12:119731875 | G | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3351-1245C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119731875 | |||||||
chr12:119732281 | G | A | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3351-1651C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732281 | |||||||
chr12:119732532 | C | A | 4 | a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0213 others(1): Show |
4 | HG01243.hp1 HG02451.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3350+1632G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732532 | |||||||
chr12:119732712 | A | T | 56 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(53): Show |
56 | HG00597.hp1 HG00733.hp1 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.3350+1452T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732712 | |||||||
chr12:119732757 | T | C | 1 | a0001c0001t0001g0223 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3350+1407A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119732757 | |||||||
chr12:119733028 | C | T | 5 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(2): Show |
5 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.3350+1136G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733028 | |||||||
chr12:119733106 | T | C | 165 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(162): Show |
165 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(162): Show |
intron_variant | MODIFIER | c.3350+1058A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733106 | |||||||
chr12:119733232 | G | GA | 7 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0118 others(4): Show |
7 | HG00738.hp2 HG01069.hp2 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.3350+931dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733232 | |||||||
chr12:119733271 | T | C | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.3350+893A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733271 | |||||||
chr12:119733358 | C | T | 18 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 others(15): Show |
18 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.3350+806G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733358 | |||||||
chr12:119733362 | T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3350+802A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733362 | |||||||
chr12:119733434 | TGAA | T | 30 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(27): Show |
30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3350+727_3350+729d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733434 | |||||||
chr12:119733519 | G | C | 1 | a0001c0001t0008g0134 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.3350+645C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733519 | |||||||
chr12:119733529 | C | CA | 19 | a0001c0001t0001g0172 a0001c0001t0001g0230 a0001c0001t0004g0156 others(16): Show |
19 | HG00408.hp1 HG01928.hp2 HG02015.hp1 others(16): Show |
intron_variant | MODIFIER | c.3350+634dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | |||||||
chr12:119733529 | CA | C | 65 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(62): Show |
65 | HG00597.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
intron_variant | MODIFIER | c.3350+634delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | |||||||
chr12:119733529 | CAA | C | 14 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3350+633_3350+634d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733529 | |||||||
chr12:119733543 | AC | A | 4 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(1): Show |
4 | HG02257.hp1 HG02970.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.3350+620delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733543 | |||||||
chr12:119733544 | C | A | 2 | a0001c0007t0005g0219 a0001c0007t0005g0220 |
2 | HG01109.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.3350+620G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733544 | |||||||
chr12:119733553 | C | A | 31 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(28): Show |
31 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(28): Show |
intron_variant | MODIFIER | c.3350+611G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733553 | |||||||
chr12:119733693 | C | G | 2 | a0001c0013t0005g0029 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.3350+471G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733693 | |||||||
chr12:119733714 | A | G | 3 | a0001c0009t0009g0036 a0001c0009t0009g0039 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3350+450T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733714 | |||||||
chr12:119733977 | G | A | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3350+187C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119733977 | |||||||
chr12:119734075 | C | T | 3 | a0001c0001t0002g0095 a0001c0006t0001g0131 a0001c0006t0001g0135 |
3 | NA18971.hp1 NA18982.hp2 NA18997.hp1 |
intron_variant | MODIFIER | c.3350+89G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734075 | |||||||
chr12:119734124 | G | A | 16 | a0001c0028t0003g0229 a0002c0004t0003g0044 a0002c0004t0007g0033 others(13): Show |
16 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3350+40C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734124 | |||||||
chr12:119734124 | G | T | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3350+40C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | 119734124 | |||||||
chr12:119734368 | G | A | 30 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(27): Show |
30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.3157-11C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734368 | |||||||
chr12:119734697 | C | T | 2 | a0001c0001t0003g0111 a0001c0030t0005g0032 |
2 | HG02258.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.3157-340G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734697 | |||||||
chr12:119734722 | G | A | 107 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(104): Show |
107 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(104): Show |
intron_variant | MODIFIER | c.3157-365C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734722 | |||||||
chr12:119734776 | A | G | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3156+384T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734776 | |||||||
chr12:119734989 | T | C | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3156+171A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119734989 | |||||||
chr12:119735091 | G | A | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3156+69C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119735091 | |||||||
chr12:119735101 | C | A | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.3156+59G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 25/47 | chr12 | 119735101 | |||||||
chr12:119735673 | T | C | 1 | a0001c0008t0001g0212 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2959-316A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735673 | |||||||
chr12:119735718 | T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2959-361A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735718 | |||||||
chr12:119735779 | C | T | 1 | a0001c0001t0023g0214 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2959-422G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735779 | |||||||
chr12:119735907 | GAAACTCA others(12): Show |
G | 1 | a0001c0003t0003g0080 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2959-569_2959-551d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735907 | |||||||
chr12:119735972 | A | G | 4 | a0002c0004t0007g0033 a0002c0004t0007g0053 a0002c0004t0007g0055 others(1): Show |
4 | HG02280.hp2 HG02886.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2959-615T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119735972 | |||||||
chr12:119736058 | C | T | 1 | a0001c0002t0020g0069 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.2959-701G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736058 | |||||||
chr12:119736123 | A | G | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2959-766T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736123 | |||||||
chr12:119736214 | C | A | 1 | a0002c0016t0001g0061 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2959-857G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736214 | |||||||
chr12:119736243 | AAAG | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-889_2959-887d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736243 | |||||||
chr12:119736246 | G | A | 6 | a0001c0003t0003g0182 a0001c0003t0003g0192 a0001c0003t0003g0208 others(3): Show |
6 | HG01243.hp1 HG02451.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-889C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736246 | |||||||
chr12:119736268 | C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2959-911G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736268 | |||||||
chr12:119736269 | G | A | 1 | a0001c0001t0001g0047 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2959-912C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736269 | |||||||
chr12:119736580 | A | G | 35 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(32): Show |
35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2959-1223T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736580 | |||||||
chr12:119736787 | G | C | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2959-1430C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736787 | |||||||
chr12:119736795 | A | G | 17 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(14): Show |
17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2959-1438T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736795 | |||||||
chr12:119736814 | G | A | 5 | a0001c0006t0012g0115 a0001c0006t0012g0128 a0001c0006t0012g0141 others(2): Show |
5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2959-1457C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119736814 | |||||||
chr12:119737114 | C | T | 1 | a0001c0001t0003g0106 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2959-1757G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737114 | |||||||
chr12:119737259 | A | G | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2959-1902T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737259 | |||||||
chr12:119737306 | C | CA | 10 | a0001c0002t0001g0070 a0001c0002t0002g0075 a0001c0002t0002g0076 others(7): Show |
10 | HG00738.hp1 HG01106.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.2959-1950dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CA | C | 15 | a0001c0002t0001g0058 a0001c0002t0002g0045 a0001c0002t0002g0046 others(12): Show |
15 | HG00741.hp1 HG02071.hp1 HG02165.hp1 others(12): Show |
intron_variant | MODIFIER | c.2959-1950delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAA | C | 7 | a0001c0001t0001g0017 a0001c0001t0001g0178 a0001c0003t0003g0086 others(4): Show |
7 | HG00735.hp2 HG02258.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2959-1951_2959-195 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAA | C | 30 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 others(27): Show |
30 | HG01081.hp2 HG01109.hp1 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2959-1952_2959-195 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAA | C | 69 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0019 others(66): Show |
69 | HG00597.hp2 HG00733.hp2 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.2959-1953_2959-195 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAA | C | 42 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0047 others(39): Show |
42 | HG00280.hp2 HG00408.hp2 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2959-1954_2959-195 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAA | C | 7 | a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0002g0140 others(4): Show |
7 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.2959-1955_2959-195 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAAA | C | 6 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(3): Show |
6 | HG02717.hp1 HG02886.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-1956_2959-195 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0001g0180 a0001c0002t0002g0102 |
2 | HG01515.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.2959-1961_2959-195 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAAA others(6): Show |
C | 2 | a0001c0003t0003g0024 a0001c0003t0003g0026 |
2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2959-1962_2959-195 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAAA others(9): Show |
C | 1 | a0001c0014t0001g0153 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2959-1965_2959-195 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737306 | CAAAAAAA others(16): Show |
C | 17 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(14): Show |
17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2959-1972_2959-195 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737306 | |||||||
chr12:119737337 | A | G | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2959-1980T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737337 | |||||||
chr12:119737425 | T | G | 2 | a0001c0001t0004g0148 a0001c0001t0004g0194 |
2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.2959-2068A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737425 | |||||||
chr12:119737525 | G | T | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2959-2168C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737525 | |||||||
chr12:119737924 | T | C | 30 | a0001c0003t0003g0031 a0001c0003t0003g0037 a0001c0003t0003g0040 others(27): Show |
30 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(27): Show |
intron_variant | MODIFIER | c.2959-2567A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737924 | |||||||
chr12:119737946 | T | C | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-2589A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737946 | |||||||
chr12:119737986 | C | T | 96 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(93): Show |
96 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.2959-2629G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737986 | |||||||
chr12:119737998 | A | C | 1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2959-2641T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119737998 | |||||||
chr12:119738080 | T | C | 96 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(93): Show |
96 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.2959-2723A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738080 | |||||||
chr12:119738089 | C | G | 35 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(32): Show |
35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2959-2732G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738089 | |||||||
chr12:119738515 | G | A | 1 | a0001c0003t0003g0086 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2959-3158C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738515 | |||||||
chr12:119738586 | T | TAA | 33 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(30): Show |
33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2959-3231_2959-323 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738586 | |||||||
chr12:119738624 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2959-3267G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738624 | |||||||
chr12:119738742 | G | A | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2959-3385C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738742 | |||||||
chr12:119738886 | GA | G | 165 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(162): Show |
165 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(162): Show |
intron_variant | MODIFIER | c.2958+3524delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738886 | |||||||
chr12:119738887 | A | G | 17 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0002g0095 others(14): Show |
17 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(14): Show |
intron_variant | MODIFIER | c.2958+3524T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738887 | |||||||
chr12:119738935 | C | A | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2958+3476G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738935 | |||||||
chr12:119738936 | A | T | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2958+3475T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738936 | |||||||
chr12:119738937 | G | A | 39 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(36): Show |
39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2958+3474C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119738937 | |||||||
chr12:119739088 | T | C | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2958+3323A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739088 | |||||||
chr12:119739098 | G | A | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2958+3313C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739098 | |||||||
chr12:119739349 | T | C | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2958+3062A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739349 | |||||||
chr12:119739368 | A | G | 4 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2958+3043T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739368 | |||||||
chr12:119739534 | AACTTGCA others(12): Show |
A | 2 | a0001c0001t0001g0142 a0001c0001t0004g0166 |
2 | NA18983.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.2958+2858_2958+287 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119739534 | |||||||
chr12:119740076 | T | A | 1 | a0009c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2958+2335A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740076 | |||||||
chr12:119740167 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2958+2244C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740167 | |||||||
chr12:119740247 | C | T | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2958+2164G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740247 | |||||||
chr12:119740321 | G | A | 1 | a0001c0001t0002g0126 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2958+2090C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740321 | |||||||
chr12:119740458 | T | C | 1 | a0001c0006t0012g0128 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.2958+1953A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740458 | |||||||
chr12:119740476 | G | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2958+1935C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740476 | |||||||
chr12:119740480 | C | T | 41 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(38): Show |
41 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(38): Show |
intron_variant | MODIFIER | c.2958+1931G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740480 | |||||||
chr12:119740487 | A | G | 4 | a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0001t0001g0202 others(1): Show |
4 | HG00735.hp1 HG03017.hp2 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.2958+1924T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740487 | |||||||
chr12:119740547 | G | GT | 34 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(31): Show |
34 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.2958+1863dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740547 | |||||||
chr12:119740547 | G | T | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2958+1864C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740547 | |||||||
chr12:119740603 | G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2958+1808C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740603 | |||||||
chr12:119740608 | G | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2958+1803C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740608 | |||||||
chr12:119740654 | A | C | 13 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2958+1757T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740654 | |||||||
chr12:119740668 | A | G | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2958+1743T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740668 | |||||||
chr12:119740688 | T | C | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2958+1723A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740688 | |||||||
chr12:119740771 | G | A | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2958+1640C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740771 | |||||||
chr12:119740986 | T | C | 11 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(8): Show |
11 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2958+1425A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119740986 | |||||||
chr12:119741032 | C | G | 1 | a0002c0004t0007g0052 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2958+1379G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741032 | |||||||
chr12:119741153 | A | AT | 2 | a0001c0002t0014g0235 a0001c0002t0014g0236 |
2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2958+1257dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741153 | |||||||
chr12:119741154 | T | TA | 10 | a0001c0001t0001g0226 a0001c0001t0005g0020 a0001c0001t0026g0233 others(7): Show |
10 | HG02056.hp2 HG02717.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.2958+1256dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741154 | |||||||
chr12:119741154 | TA | T | 51 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0003t0003g0024 others(48): Show |
51 | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(48): Show |
intron_variant | MODIFIER | c.2958+1256delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741154 | |||||||
chr12:119741274 | G | C | 1 | a0001c0001t0001g0195 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2958+1137C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741274 | |||||||
chr12:119741325 | T | G | 2 | a0001c0015t0006g0004 a0001c0015t0006g0023 |
2 | HG01243.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2958+1086A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741325 | |||||||
chr12:119741499 | C | T | 2 | a0001c0003t0003g0031 a0001c0003t0003g0184 |
2 | HG01069.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2958+912G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741499 | |||||||
chr12:119741604 | T | C | 178 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(175): Show |
178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.2958+807A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741604 | |||||||
chr12:119741785 | C | G | 39 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(36): Show |
39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2958+626G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741785 | |||||||
chr12:119741994 | G | A | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2958+417C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119741994 | |||||||
chr12:119742081 | T | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2958+330A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119742081 | |||||||
chr12:119742124 | G | A | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2958+287C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | 119742124 | |||||||
chr12:119742536 | T | C | 1 | a0001c0001t0004g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.2905-72A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742536 | |||||||
chr12:119742555 | T | C | 5 | a0001c0006t0012g0115 a0001c0006t0012g0128 a0001c0006t0012g0141 others(2): Show |
5 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(2): Show |
intron_variant | MODIFIER | c.2905-91A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742555 | |||||||
chr12:119742556 | G | A | 1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2905-92C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742556 | |||||||
chr12:119742645 | C | T | 5 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-181G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742645 | |||||||
chr12:119742790 | T | C | 7 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.2905-326A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742790 | |||||||
chr12:119742866 | G | GAC | 97 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(94): Show |
97 | HG00408.hp2 HG00597.hp2 HG00733.hp2 others(94): Show |
intron_variant | MODIFIER | c.2905-404_2905-403d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | |||||||
chr12:119742866 | G | GACAC | 22 | a0001c0001t0001g0008 a0001c0001t0001g0100 a0001c0001t0001g0108 others(19): Show |
22 | HG00597.hp1 HG00733.hp1 HG01934.hp2 others(19): Show |
intron_variant | MODIFIER | c.2905-406_2905-403d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | |||||||
chr12:119742866 | GAC | G | 13 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2905-404_2905-403d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | |||||||
chr12:119742866 | GACACACA others(1): Show |
G | 39 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(36): Show |
39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2905-410_2905-403d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742866 | |||||||
chr12:119742914 | C | T | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2905-450G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119742914 | |||||||
chr12:119743179 | G | A | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2905-715C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743179 | |||||||
chr12:119743587 | G | T | 39 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(36): Show |
39 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(36): Show |
intron_variant | MODIFIER | c.2905-1123C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743587 | |||||||
chr12:119743590 | T | C | 1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.2905-1126A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743590 | |||||||
chr12:119743734 | A | C | 1 | a0001c0001t0001g0145 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2905-1270T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743734 | |||||||
chr12:119743989 | T | C | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2905-1525A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119743989 | |||||||
chr12:119744004 | C | T | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-1540G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744004 | |||||||
chr12:119744079 | G | A | 5 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-1615C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744079 | |||||||
chr12:119744103 | C | T | 178 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(175): Show |
178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.2905-1639G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744103 | |||||||
chr12:119744161 | C | T | 1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2905-1697G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744161 | |||||||
chr12:119744276 | C | T | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2905-1812G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744276 | |||||||
chr12:119744393 | T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2905-1929A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744393 | |||||||
chr12:119744403 | TA | T | 20 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(17): Show |
20 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.2905-1940delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744403 | |||||||
chr12:119744416 | A | T | 4 | a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0124 others(1): Show |
4 | HG00733.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.2905-1952T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744416 | |||||||
chr12:119744639 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2905-2175G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744639 | |||||||
chr12:119744640 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2176C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744640 | |||||||
chr12:119744690 | G | A | 5 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-2226C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744690 | |||||||
chr12:119744714 | C | CA | 127 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(124): Show |
127 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(124): Show |
intron_variant | MODIFIER | c.2905-2251dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | |||||||
chr12:119744714 | C | CAA | 32 | a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0002g0095 others(29): Show |
32 | HG00597.hp1 HG00735.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2905-2252_2905-225 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | |||||||
chr12:119744714 | CA | C | 15 | a0001c0011t0009g0098 a0001c0030t0005g0032 a0001c0034t0001g0063 others(12): Show |
15 | HG00408.hp1 HG01169.hp2 HG02280.hp2 others(12): Show |
intron_variant | MODIFIER | c.2905-2251delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744714 | |||||||
chr12:119744865 | G | A | 3 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 |
3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2905-2401C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119744865 | |||||||
chr12:119745059 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2905-2595C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745059 | |||||||
chr12:119745208 | T | TA | 10 | a0001c0001t0001g0200 a0001c0001t0005g0020 a0001c0005t0008g0021 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.2905-2745dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745208 | |||||||
chr12:119745374 | C | CA | 52 | a0001c0002t0001g0070 a0001c0002t0001g0093 a0001c0002t0002g0045 others(49): Show |
52 | HG00280.hp1 HG00408.hp1 HG00738.hp1 others(49): Show |
intron_variant | MODIFIER | c.2905-2911dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAA | 16 | a0001c0001t0001g0195 a0001c0002t0001g0058 a0001c0002t0001g0087 others(13): Show |
16 | HG01109.hp1 HG02027.hp2 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.2905-2912_2905-291 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAA | 5 | a0001c0001t0005g0020 a0001c0006t0027g0234 a0001c0009t0009g0039 others(2): Show |
5 | HG02630.hp1 HG03130.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.2905-2915_2905-291 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(3): Show |
6 | a0001c0003t0003g0031 a0001c0003t0003g0177 a0001c0003t0003g0184 others(3): Show |
6 | HG01069.hp1 HG01081.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2920_2905-291 others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(4): Show |
7 | a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0003t0003g0127 others(4): Show |
7 | HG01258.hp2 HG02451.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2905-2921_2905-291 others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(5): Show |
14 | a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0121 others(11): Show |
14 | HG01081.hp1 HG01109.hp2 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.2905-2922_2905-291 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(6): Show |
36 | a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0108 others(33): Show |
36 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(33): Show |
intron_variant | MODIFIER | c.2905-2923_2905-291 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(7): Show |
30 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(27): Show |
30 | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.2905-2924_2905-291 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(8): Show |
16 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | HG00597.hp2 HG00735.hp1 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.2905-2925_2905-291 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(9): Show |
2 | a0001c0001t0001g0019 a0001c0001t0001g0175 |
2 | HG01258.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2905-2926_2905-291 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(10): Show |
3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2905-2927_2905-291 others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(11): Show |
1 | a0001c0003t0003g0205 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2905-2928_2905-291 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(12): Show |
2 | a0001c0001t0004g0204 a0001c0005t0008g0181 |
2 | HG03195.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.2905-2929_2905-291 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(13): Show |
3 | a0001c0005t0008g0022 a0001c0005t0008g0215 a0001c0013t0005g0029 |
3 | HG02717.hp2 HG02723.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2905-2930_2905-291 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(14): Show |
2 | a0001c0017t0003g0012 a0001c0017t0003g0013 |
2 | HG02559.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2905-2931_2905-291 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | C | CAAAAAAA others(16): Show |
4 | a0001c0005t0008g0021 a0001c0005t0008g0085 a0002c0016t0001g0014 others(1): Show |
4 | HG02647.hp2 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2905-2933_2905-291 others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745374 | CAAAAAAA | C | 6 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(3): Show |
6 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-2917_2905-291 others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745374 | |||||||
chr12:119745386 | A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0145 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2905-2923_2905-292 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745386 | |||||||
chr12:119745386 | A | AAAAAAAA others(6): Show |
1 | a0001c0001t0002g0140 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2905-2935_2905-292 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745386 | |||||||
chr12:119745390 | A | AAAAAAAA others(7): Show |
1 | a0001c0001t0002g0143 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2905-2927_2905-292 others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745390 | |||||||
chr12:119745390 | A | AAAAAAAA others(6): Show |
1 | a0001c0001t0002g0120 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2905-2927_2905-292 others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745390 | |||||||
chr12:119745479 | CA | C | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-3016delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745479 | |||||||
chr12:119745484 | G | T | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-3020C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745484 | |||||||
chr12:119745670 | C | T | 1 | a0001c0002t0002g0075 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2905-3206G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745670 | |||||||
chr12:119745717 | C | T | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2905-3253G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745717 | |||||||
chr12:119745802 | C | T | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2905-3338G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745802 | |||||||
chr12:119745826 | C | CA | 178 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(175): Show |
178 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.2905-3363dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745826 | |||||||
chr12:119745942 | T | C | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2905-3478A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119745942 | |||||||
chr12:119746267 | T | C | 4 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2905-3803A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746267 | |||||||
chr12:119746329 | T | A | 9 | a0001c0001t0002g0095 a0001c0006t0001g0131 a0001c0006t0001g0135 others(6): Show |
9 | NA18969.hp1 NA18971.hp1 NA18973.hp1 others(6): Show |
intron_variant | MODIFIER | c.2905-3865A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746329 | |||||||
chr12:119746560 | C | G | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4096G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746560 | |||||||
chr12:119746575 | A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2905-4111T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746575 | |||||||
chr12:119746589 | T | C | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2905-4125A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746589 | |||||||
chr12:119746873 | TA | T | 3 | a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0066 |
3 | HG03490.hp2 HG03492.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2905-4410delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746873 | |||||||
chr12:119746957 | T | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4493A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119746957 | |||||||
chr12:119747040 | GAATA | G | 163 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(160): Show |
163 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(160): Show |
intron_variant | MODIFIER | c.2905-4580_2905-457 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747040 | |||||||
chr12:119747149 | A | G | 163 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(160): Show |
163 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(160): Show |
intron_variant | MODIFIER | c.2905-4685T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747149 | |||||||
chr12:119747150 | C | A | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2905-4686G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747150 | |||||||
chr12:119747183 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2905-4719C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747183 | |||||||
chr12:119747376 | G | A | 1 | a0002c0004t0011g0162 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2904+4674C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747376 | |||||||
chr12:119747696 | G | C | 1 | a0001c0001t0008g0134 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2904+4354C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747696 | |||||||
chr12:119747971 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2904+4079G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119747971 | |||||||
chr12:119748050 | G | T | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2904+4000C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748050 | |||||||
chr12:119748329 | C | T | 3 | a0001c0001t0001g0100 a0001c0001t0001g0130 a0001c0001t0001g0147 |
3 | HG00597.hp1 NA19065.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2904+3721G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748329 | |||||||
chr12:119748509 | A | G | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2904+3541T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748509 | |||||||
chr12:119748527 | A | G | 27 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(24): Show |
27 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(24): Show |
intron_variant | MODIFIER | c.2904+3523T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748527 | |||||||
chr12:119748547 | A | G | 180 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(177): Show |
180 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(177): Show |
intron_variant | MODIFIER | c.2904+3503T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748547 | |||||||
chr12:119748903 | T | C | 126 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(123): Show |
126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.2904+3147A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119748903 | |||||||
chr12:119749001 | C | T | 2 | a0001c0001t0004g0169 a0001c0001t0004g0170 |
2 | HG03017.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2904+3049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749001 | |||||||
chr12:119749039 | C | T | 186 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(183): Show |
186 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(183): Show |
intron_variant | MODIFIER | c.2904+3011G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749039 | |||||||
chr12:119749061 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2904+2989C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749061 | |||||||
chr12:119749126 | C | T | 54 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(51): Show |
54 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(51): Show |
intron_variant | MODIFIER | c.2904+2924G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749126 | |||||||
chr12:119749129 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+2921C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749129 | |||||||
chr12:119749131 | G | A | 33 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(30): Show |
33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2904+2919C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749131 | |||||||
chr12:119749309 | G | T | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2904+2741C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749309 | |||||||
chr12:119749357 | T | C | 3 | a0001c0003t0003g0208 a0001c0003t0003g0213 a0001c0003t0017g0060 |
3 | HG01243.hp1 HG02451.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2904+2693A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749357 | |||||||
chr12:119749417 | C | T | 27 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(24): Show |
27 | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(24): Show |
intron_variant | MODIFIER | c.2904+2633G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749417 | |||||||
chr12:119749436 | C | T | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+2614G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749436 | |||||||
chr12:119749568 | G | A | 161 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(158): Show |
161 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(158): Show |
intron_variant | MODIFIER | c.2904+2482C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749568 | |||||||
chr12:119749672 | T | G | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2904+2378A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749672 | |||||||
chr12:119749679 | A | G | 186 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(183): Show |
186 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(183): Show |
intron_variant | MODIFIER | c.2904+2371T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749679 | |||||||
chr12:119749914 | T | C | 1 | a0001c0001t0001g0179 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2904+2136A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119749914 | |||||||
chr12:119750000 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2904+2050C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750000 | |||||||
chr12:119750064 | G | A | 165 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(162): Show |
165 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(162): Show |
intron_variant | MODIFIER | c.2904+1986C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750064 | |||||||
chr12:119750241 | T | C | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2904+1809A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750241 | |||||||
chr12:119750643 | T | G | 161 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(158): Show |
161 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(158): Show |
intron_variant | MODIFIER | c.2904+1407A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750643 | |||||||
chr12:119750731 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+1319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750731 | |||||||
chr12:119750748 | T | TATAG | 19 | a0001c0001t0001g0047 a0001c0001t0001g0172 a0001c0001t0001g0174 others(16): Show |
19 | HG00280.hp2 HG02015.hp2 HG02056.hp2 others(16): Show |
intron_variant | MODIFIER | c.2904+1298_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | T | TATAGATA others(1): Show |
4 | a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0004g0168 others(1): Show |
4 | HG02071.hp2 HG03688.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.2904+1294_2904+130 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | T | TATAGATA others(5): Show |
1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2904+1290_2904+130 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | TATAG | T | 62 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0018 others(59): Show |
62 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.2904+1298_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | TATAGATA others(1): Show |
T | 8 | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0199 others(5): Show |
8 | HG01928.hp2 HG03195.hp1 HG03710.hp1 others(5): Show |
intron_variant | MODIFIER | c.2904+1294_2904+130 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | TATAGATA others(5): Show |
T | 8 | a0001c0001t0001g0122 a0001c0001t0001g0195 a0001c0001t0006g0116 others(5): Show |
8 | HG01069.hp1 HG01081.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2904+1290_2904+130 others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | TATAGATA others(9): Show |
T | 32 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0037 others(29): Show |
32 | HG00735.hp2 HG01109.hp2 HG01168.hp1 others(29): Show |
intron_variant | MODIFIER | c.2904+1286_2904+130 others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750748 | TATAGATA others(13): Show |
T | 1 | a0001c0003t0003g0192 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2904+1282_2904+130 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750748 | |||||||
chr12:119750750 | T | TAGAC | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2904+1299_2904+130 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750750 | |||||||
chr12:119750798 | G | T | 1 | a0002c0016t0001g0014 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2904+1252C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750798 | |||||||
chr12:119750814 | C | T | 2 | a0001c0001t0001g0047 a0001c0001t0001g0180 |
2 | HG00280.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.2904+1236G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119750814 | |||||||
chr12:119751380 | CA | C | 186 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(183): Show |
186 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(183): Show |
intron_variant | MODIFIER | c.2904+669delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751380 | |||||||
chr12:119751619 | A | AAAG | 145 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(142): Show |
145 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(142): Show |
intron_variant | MODIFIER | c.2904+428_2904+430d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751619 | |||||||
chr12:119751692 | ATTATT | A | 3 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 |
3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2904+353_2904+357d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751692 | |||||||
chr12:119751727 | A | G | 147 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(144): Show |
147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
intron_variant | MODIFIER | c.2904+323T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751727 | |||||||
chr12:119751883 | A | G | 126 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(123): Show |
126 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(123): Show |
intron_variant | MODIFIER | c.2904+167T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | 119751883 | |||||||
chr12:119752249 | T | TGA | 12 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0052 others(9): Show |
12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
splice_region_variant&intron_variant | LOW | c.2707-4_2707-3dupTC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | |||||||
chr12:119752249 | T | TGAGA | 4 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.2707-6_2707-3dupTC others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | |||||||
chr12:119752249 | T | TGAGAGA | 3 | a0002c0004t0007g0050 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02896.hp1 HG02897.hp1 HG02976.hp1 |
splice_region_variant&intron_variant | LOW | c.2707-3_2707-2insTC others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752249 | |||||||
chr12:119752254 | C | G | 25 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(22): Show |
25 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(22): Show |
splice_region_variant&intron_variant | LOW | c.2707-7G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752254 | |||||||
chr12:119752565 | C | T | 2 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
2 | HG00738.hp2 HG01069.hp2 |
intron_variant | MODIFIER | c.2707-318G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752565 | |||||||
chr12:119752687 | T | C | 1 | a0001c0029t0003g0187 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2707-440A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752687 | |||||||
chr12:119752897 | T | G | 167 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(164): Show |
167 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(164): Show |
intron_variant | MODIFIER | c.2707-650A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119752897 | |||||||
chr12:119753116 | GACAA | G | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-873_2707-870d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753116 | |||||||
chr12:119753280 | C | T | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2707-1033G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753280 | |||||||
chr12:119753289 | G | A | 7 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2707-1042C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753289 | |||||||
chr12:119753518 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-1271G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753518 | |||||||
chr12:119753736 | C | CA | 38 | a0001c0001t0001g0008 a0001c0001t0001g0223 a0001c0001t0002g0095 others(35): Show |
38 | HG00733.hp1 HG01109.hp1 HG01928.hp1 others(35): Show |
intron_variant | MODIFIER | c.2707-1490dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753736 | |||||||
chr12:119753785 | G | A | 5 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(2): Show |
5 | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.2707-1538C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753785 | |||||||
chr12:119753789 | G | A | 1 | a0001c0012t0002g0101 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2707-1542C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753789 | |||||||
chr12:119753839 | G | A | 138 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
138 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(135): Show |
intron_variant | MODIFIER | c.2707-1592C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753839 | |||||||
chr12:119753849 | A | C | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2707-1602T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119753849 | |||||||
chr12:119754070 | G | A | 138 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
138 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(135): Show |
intron_variant | MODIFIER | c.2707-1823C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754070 | |||||||
chr12:119754332 | C | T | 3 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 |
3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2707-2085G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754332 | |||||||
chr12:119754405 | T | G | 186 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(183): Show |
186 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(183): Show |
intron_variant | MODIFIER | c.2707-2158A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754405 | |||||||
chr12:119754752 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2707-2505A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754752 | |||||||
chr12:119754811 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+2560G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754811 | |||||||
chr12:119754813 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+2558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754813 | |||||||
chr12:119754973 | T | TA | 4 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2706+2397dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754973 | |||||||
chr12:119754989 | G | A | 12 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(9): Show |
12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.2706+2382C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119754989 | |||||||
chr12:119755114 | C | T | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2706+2257G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755114 | |||||||
chr12:119755382 | C | G | 2 | a0001c0001t0001g0202 a0001c0001t0004g0204 |
2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2706+1989G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755382 | |||||||
chr12:119755656 | G | A | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2706+1715C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755656 | |||||||
chr12:119755681 | C | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1690G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755681 | |||||||
chr12:119755692 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+1679A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755692 | |||||||
chr12:119755786 | T | C | 138 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(135): Show |
138 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(135): Show |
intron_variant | MODIFIER | c.2706+1585A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755786 | |||||||
chr12:119755859 | A | T | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2706+1512T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755859 | |||||||
chr12:119755869 | A | G | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1502T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755869 | |||||||
chr12:119755893 | C | A | 1 | a0002c0004t0011g0056 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2706+1478G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119755893 | |||||||
chr12:119756011 | T | G | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1360A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756011 | |||||||
chr12:119756034 | G | A | 2 | a0001c0001t0001g0202 a0001c0001t0004g0204 |
2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2706+1337C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756034 | |||||||
chr12:119756045 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+1326C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756045 | |||||||
chr12:119756160 | T | C | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+1211A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756160 | |||||||
chr12:119756371 | G | A | 1 | a0001c0001t0001g0129 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2706+1000C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756371 | |||||||
chr12:119756453 | G | A | 1 | a0001c0003t0003g0192 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2706+918C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756453 | |||||||
chr12:119756465 | T | G | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2706+906A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756465 | |||||||
chr12:119756517 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+854A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756517 | |||||||
chr12:119756585 | G | C | 13 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2706+786C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756585 | |||||||
chr12:119756612 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2706+759A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756612 | |||||||
chr12:119756744 | G | A | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2706+627C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756744 | |||||||
chr12:119756993 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+378C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119756993 | |||||||
chr12:119757012 | C | T | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2706+359G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757012 | |||||||
chr12:119757013 | G | A | 33 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(30): Show |
33 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(30): Show |
intron_variant | MODIFIER | c.2706+358C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757013 | |||||||
chr12:119757117 | T | TA | 36 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0004g0160 others(33): Show |
36 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(33): Show |
intron_variant | MODIFIER | c.2706+253dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757117 | |||||||
chr12:119757117 | TA | T | 11 | a0001c0001t0001g0001 a0001c0001t0001g0117 a0001c0001t0001g0174 others(8): Show |
11 | HG01069.hp2 HG02293.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.2706+253delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757117 | |||||||
chr12:119757278 | C | G | 33 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(30): Show |
33 | HG01069.hp1 HG01081.hp2 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.2706+93G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757278 | |||||||
chr12:119757357 | C | T | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2706+14G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | 119757357 | |||||||
chr12:119757550 | TG | T | 32 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(29): Show |
32 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(29): Show |
splice_region_variant&intron_variant | LOW | c.2532-6delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757550 | |||||||
chr12:119757818 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2532-273G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757818 | |||||||
chr12:119757887 | A | C | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2532-342T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119757887 | |||||||
chr12:119758231 | A | G | 1 | a0001c0003t0017g0060 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2531+360T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758231 | |||||||
chr12:119758409 | C | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
94 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.2531+182G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758409 | |||||||
chr12:119758420 | G | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2531+171C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758420 | |||||||
chr12:119758491 | CA | C | 94 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
94 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.2531+99delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 21/47 | chr12 | 119758491 | |||||||
chr12:119759050 | C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2422-350G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759050 | |||||||
chr12:119759237 | A | T | 1 | a0001c0002t0004g0073 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.2422-537T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759237 | |||||||
chr12:119759355 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2422-655C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759355 | |||||||
chr12:119759428 | C | G | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2422-728G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759428 | |||||||
chr12:119759895 | C | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2421+1044G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759895 | |||||||
chr12:119759901 | G | A | 12 | a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 others(9): Show |
12 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.2421+1038C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759901 | |||||||
chr12:119759912 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
94 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.2421+1027G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119759912 | |||||||
chr12:119760023 | C | T | 2 | a0001c0003t0005g0189 a0001c0003t0005g0190 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2421+916G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760023 | |||||||
chr12:119760069 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(145): Show |
148 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(145): Show |
intron_variant | MODIFIER | c.2421+870A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760069 | |||||||
chr12:119760186 | C | CA | 9 | a0001c0001t0002g0138 a0001c0001t0004g0150 a0001c0007t0005g0030 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2421+752dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760186 | |||||||
chr12:119760204 | AG | A | 12 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0183 others(9): Show |
12 | HG01243.hp1 HG01243.hp2 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.2421+734delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760204 | |||||||
chr12:119760205 | G | A | 42 | a0001c0001t0001g0195 a0001c0003t0003g0031 a0001c0003t0003g0080 others(39): Show |
42 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.2421+734C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760205 | |||||||
chr12:119760381 | C | T | 1 | a0010c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2421+558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760381 | |||||||
chr12:119760626 | CA | C | 36 | a0001c0001t0001g0195 a0001c0001t0005g0020 a0001c0003t0003g0024 others(33): Show |
36 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.2421+312delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 20/47 | chr12 | 119760626 | |||||||
chr12:119761210 | G | A | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-155C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761210 | |||||||
chr12:119761599 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-544C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761599 | |||||||
chr12:119761621 | A | C | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-566T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761621 | |||||||
chr12:119761688 | C | T | 1 | a0001c0010t0002g0113 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2305-633G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761688 | |||||||
chr12:119761857 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-802G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761857 | |||||||
chr12:119761954 | A | G | 184 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(181): Show |
184 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.2305-899T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119761954 | |||||||
chr12:119762005 | T | A | 15 | a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.2305-950A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762005 | |||||||
chr12:119762077 | C | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-1022G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762077 | |||||||
chr12:119762111 | C | T | 1 | a0001c0013t0005g0029 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2305-1056G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762111 | |||||||
chr12:119762144 | C | T | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2305-1089G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762144 | |||||||
chr12:119762308 | G | A | 146 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show |
146 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(143): Show |
intron_variant | MODIFIER | c.2305-1253C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762308 | |||||||
chr12:119762313 | A | T | 21 | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0114 others(18): Show |
21 | HG00408.hp2 HG00597.hp1 HG02056.hp2 others(18): Show |
intron_variant | MODIFIER | c.2305-1258T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762313 | |||||||
chr12:119762364 | T | G | 2 | a0001c0001t0001g0132 a0001c0001t0001g0144 |
2 | NA19010.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.2305-1309A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762364 | |||||||
chr12:119762706 | G | T | 1 | a0001c0001t0001g0125 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2305-1651C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762706 | |||||||
chr12:119762808 | G | A | 30 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(27): Show |
30 | HG00733.hp1 HG01934.hp2 HG02451.hp1 others(27): Show |
intron_variant | MODIFIER | c.2305-1753C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762808 | |||||||
chr12:119762810 | G | T | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2305-1755C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762810 | |||||||
chr12:119762828 | C | T | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-1773G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119762828 | |||||||
chr12:119763129 | A | G | 182 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(179): Show |
182 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(179): Show |
intron_variant | MODIFIER | c.2305-2074T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763129 | |||||||
chr12:119763288 | G | GTGCCAGG others(105): Show |
146 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(143): Show |
146 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(143): Show |
intron_variant | MODIFIER | c.2305-2234_2305-223 others(116): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763288 | |||||||
chr12:119763289 | T | TGCCAGGG others(105): Show |
38 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(35): Show |
38 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2305-2235_2305-223 others(116): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763289 | |||||||
chr12:119763381 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2305-2326C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763381 | |||||||
chr12:119763573 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-2518C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763573 | |||||||
chr12:119763738 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2305-2683G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763738 | |||||||
chr12:119763749 | A | C | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2305-2694T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763749 | |||||||
chr12:119763867 | CTAA | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2305-2815_2305-281 others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763867 | |||||||
chr12:119763886 | C | T | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2305-2831G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119763886 | |||||||
chr12:119764092 | G | A | 1 | a0001c0011t0009g0191 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2304+2995C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764092 | |||||||
chr12:119764152 | C | A | 4 | a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0124 others(1): Show |
4 | HG00733.hp2 HG01167.hp1 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.2304+2935G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764152 | |||||||
chr12:119764255 | A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.2304+2832T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764255 | |||||||
chr12:119764274 | G | A | 1 | a0001c0001t0001g0180 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2304+2813C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764274 | |||||||
chr12:119764436 | C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2304+2651G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764436 | |||||||
chr12:119764607 | C | CA | 7 | a0001c0001t0001g0230 a0001c0008t0001g0210 a0001c0008t0001g0211 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.2304+2479dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764607 | |||||||
chr12:119764782 | T | C | 5 | a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0009t0009g0036 others(2): Show |
5 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2304+2305A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764782 | |||||||
chr12:119764821 | T | C | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2304+2266A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764821 | |||||||
chr12:119764941 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+2146C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764941 | |||||||
chr12:119764985 | T | C | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2304+2102A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119764985 | |||||||
chr12:119765098 | G | A | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2304+1989C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765098 | |||||||
chr12:119765357 | T | TATATATA others(26): Show |
1 | a0007c0036t0003g0207 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2304+1697_2304+172 others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765357 | |||||||
chr12:119765359 | T | TATATATA others(26): Show |
2 | a0001c0002t0014g0235 a0001c0002t0014g0236 |
2 | HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2304+1695_2304+172 others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765359 | |||||||
chr12:119765375 | A | G | 38 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0001t0005g0020 others(35): Show |
38 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(35): Show |
intron_variant | MODIFIER | c.2304+1712T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765375 | |||||||
chr12:119765381 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2304+1706T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765381 | |||||||
chr12:119765382 | T | TATATATT others(19): Show |
1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2304+1679_2304+170 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765382 | |||||||
chr12:119765408 | C | CAT | 3 | a0001c0003t0003g0193 a0001c0003t0003g0197 a0008c0021t0003g0003 |
3 | HG02922.hp2 HG02965.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2304+1677_2304+167 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765408 | |||||||
chr12:119765469 | C | CT | 40 | a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0002g0110 others(37): Show |
40 | HG00408.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.2304+1617dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765469 | |||||||
chr12:119765469 | C | CTT | 5 | a0001c0003t0003g0197 a0001c0013t0005g0029 a0001c0017t0003g0012 others(2): Show |
5 | HG02559.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2304+1616_2304+161 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765469 | |||||||
chr12:119765917 | T | C | 130 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(127): Show |
130 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(127): Show |
intron_variant | MODIFIER | c.2304+1170A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119765917 | |||||||
chr12:119766068 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+1019G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766068 | |||||||
chr12:119766069 | G | A | 38 | a0001c0001t0001g0195 a0001c0001t0026g0233 a0001c0003t0003g0024 others(35): Show |
38 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(35): Show |
intron_variant | MODIFIER | c.2304+1018C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766069 | |||||||
chr12:119766114 | A | C | 15 | a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0001g0122 others(12): Show |
15 | HG00408.hp2 HG02071.hp2 HG02083.hp1 others(12): Show |
intron_variant | MODIFIER | c.2304+973T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766114 | |||||||
chr12:119766142 | T | C | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2304+945A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766142 | |||||||
chr12:119766242 | GA | G | 167 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(164): Show |
167 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(164): Show |
intron_variant | MODIFIER | c.2304+844delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766242 | |||||||
chr12:119766507 | A | T | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2304+580T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766507 | |||||||
chr12:119766574 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.2304+513C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766574 | |||||||
chr12:119766816 | A | G | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2304+271T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766816 | |||||||
chr12:119766876 | T | A | 1 | a0010c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2304+211A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766876 | |||||||
chr12:119766876 | T | TA | 5 | a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0009t0009g0036 others(2): Show |
5 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2304+210dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 19/47 | chr12 | 119766876 | |||||||
chr12:119767291 | T | G | 189 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(186): Show |
189 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(186): Show |
intron_variant | MODIFIER | c.2209-109A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767291 | |||||||
chr12:119767429 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2209-247C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767429 | |||||||
chr12:119767492 | G | A | 2 | a0001c0001t0001g0202 a0001c0001t0004g0204 |
2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2209-310C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767492 | |||||||
chr12:119767550 | T | A | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2209-368A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767550 | |||||||
chr12:119767723 | A | G | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2209-541T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767723 | |||||||
chr12:119767754 | T | C | 1 | a0001c0006t0012g0141 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2209-572A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767754 | |||||||
chr12:119767789 | A | G | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2209-607T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767789 | |||||||
chr12:119767822 | C | G | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2209-640G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767822 | |||||||
chr12:119767912 | CT | C | 5 | a0001c0003t0003g0184 a0001c0006t0027g0234 a0001c0008t0001g0210 others(2): Show |
5 | HG01081.hp2 HG02109.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.2209-731delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119767912 | |||||||
chr12:119768235 | C | T | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2209-1053G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768235 | |||||||
chr12:119768236 | T | A | 1 | a0001c0003t0003g0182 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2209-1054A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768236 | |||||||
chr12:119768236 | T | G | 33 | a0001c0001t0001g0195 a0001c0001t0026g0233 a0001c0003t0003g0024 others(30): Show |
33 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.2209-1054A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768236 | |||||||
chr12:119768454 | AT | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2209-1273delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768454 | |||||||
chr12:119768736 | C | T | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2209-1554G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768736 | |||||||
chr12:119768856 | G | A | 3 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 |
3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2209-1674C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768856 | |||||||
chr12:119768958 | G | A | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2209-1776C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119768958 | |||||||
chr12:119769034 | G | A | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2208+1751C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769034 | |||||||
chr12:119769075 | CT | C | 150 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(147): Show |
150 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(147): Show |
intron_variant | MODIFIER | c.2208+1709delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769075 | |||||||
chr12:119769140 | G | A | 168 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(165): Show |
168 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(165): Show |
intron_variant | MODIFIER | c.2208+1645C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769140 | |||||||
chr12:119769177 | CT | C | 35 | a0001c0001t0001g0195 a0001c0001t0026g0233 a0001c0003t0003g0024 others(32): Show |
35 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.2208+1607delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769177 | |||||||
chr12:119769186 | C | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2208+1599G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769186 | |||||||
chr12:119769234 | G | T | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2208+1551C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769234 | |||||||
chr12:119769371 | T | C | 97 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(94): Show |
97 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.2208+1414A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769371 | |||||||
chr12:119769576 | G | A | 2 | a0001c0013t0005g0029 a0001c0030t0005g0032 |
2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2208+1209C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769576 | |||||||
chr12:119769607 | T | C | 94 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(91): Show |
94 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.2208+1178A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769607 | |||||||
chr12:119769736 | T | C | 3 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 |
3 | HG02886.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2208+1049A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769736 | |||||||
chr12:119769874 | A | C | 32 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0003t0003g0037 others(29): Show |
32 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(29): Show |
intron_variant | MODIFIER | c.2208+911T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769874 | |||||||
chr12:119769988 | C | A | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2208+797G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119769988 | |||||||
chr12:119770001 | CT | C | 30 | a0001c0001t0001g0008 a0001c0001t0002g0095 a0001c0003t0003g0037 others(27): Show |
30 | HG00733.hp1 HG01109.hp1 HG01934.hp2 others(27): Show |
intron_variant | MODIFIER | c.2208+783delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119770001 | |||||||
chr12:119770529 | TA | T | 182 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(179): Show |
182 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(179): Show |
intron_variant | MODIFIER | c.2208+255delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 18/47 | chr12 | 119770529 | |||||||
chr12:119770976 | G | A | 6 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.2083-66C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119770976 | |||||||
chr12:119771014 | G | T | 1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2083-104C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771014 | |||||||
chr12:119771150 | C | T | 1 | a0001c0009t0009g0036 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2083-240G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771150 | |||||||
chr12:119771168 | T | C | 2 | a0001c0001t0002g0105 a0001c0001t0025g0107 |
2 | NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.2083-258A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771168 | |||||||
chr12:119771207 | T | C | 116 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(113): Show |
116 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(113): Show |
intron_variant | MODIFIER | c.2083-297A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771207 | |||||||
chr12:119771471 | G | A | 57 | a0001c0001t0001g0195 a0001c0001t0005g0020 a0001c0001t0026g0233 others(54): Show |
57 | HG00735.hp2 HG01069.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.2083-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771471 | |||||||
chr12:119771554 | G | A | 4 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 others(1): Show |
4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.2083-644C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771554 | |||||||
chr12:119771599 | C | A | 2 | a0001c0003t0003g0198 a0001c0035t0003g0007 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2083-689G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771599 | |||||||
chr12:119771874 | A | G | 124 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(121): Show |
124 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(121): Show |
intron_variant | MODIFIER | c.2082+896T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771874 | |||||||
chr12:119771954 | A | G | 140 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(137): Show |
140 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(137): Show |
intron_variant | MODIFIER | c.2082+816T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119771954 | |||||||
chr12:119772140 | TCAACTAC others(8): Show |
T | 119 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(116): Show |
119 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(116): Show |
intron_variant | MODIFIER | c.2082+615_2082+629d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772140 | |||||||
chr12:119772208 | G | A | 8 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+562C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772208 | |||||||
chr12:119772374 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2082+396G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772374 | |||||||
chr12:119772420 | G | A | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2082+350C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772420 | |||||||
chr12:119772424 | A | C | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2082+346T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772424 | |||||||
chr12:119772466 | A | C | 125 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.2082+304T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772466 | |||||||
chr12:119772533 | G | A | 125 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.2082+237C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772533 | |||||||
chr12:119772590 | T | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2082+180A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772590 | |||||||
chr12:119772718 | C | A | 8 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+52G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772718 | |||||||
chr12:119772732 | G | A | 8 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2082+38C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 17/47 | chr12 | 119772732 | |||||||
chr12:119773014 | T | TA | 92 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(89): Show |
92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1942-105dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773014 | |||||||
chr12:119773014 | TA | T | 16 | a0001c0002t0002g0075 a0001c0002t0018g0068 a0001c0005t0008g0022 others(13): Show |
16 | HG01109.hp1 HG02109.hp2 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.1942-105delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773014 | |||||||
chr12:119773102 | A | G | 6 | a0001c0003t0003g0080 a0001c0003t0003g0182 a0001c0003t0003g0192 others(3): Show |
6 | HG01243.hp1 HG02109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1942-192T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773102 | |||||||
chr12:119773167 | C | T | 3 | a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0009t0009g0039 |
3 | HG02451.hp1 HG03225.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1942-257G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773167 | |||||||
chr12:119773248 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1942-338C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773248 | |||||||
chr12:119773442 | T | C | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1942-532A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773442 | |||||||
chr12:119773494 | G | A | 107 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(104): Show |
107 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.1942-584C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773494 | |||||||
chr12:119773502 | A | G | 125 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.1942-592T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773502 | |||||||
chr12:119773723 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1942-813G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773723 | |||||||
chr12:119773788 | T | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(109): Show |
112 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(109): Show |
intron_variant | MODIFIER | c.1942-878A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773788 | |||||||
chr12:119773840 | G | A | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1942-930C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773840 | |||||||
chr12:119773926 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1942-1016C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119773926 | |||||||
chr12:119774286 | G | GT | 8 | a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0003t0003g0086 others(5): Show |
8 | HG00735.hp2 HG02293.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1942-1377dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774286 | |||||||
chr12:119774558 | A | ATG | 11 | a0001c0002t0002g0072 a0001c0002t0002g0089 a0001c0003t0003g0127 others(8): Show |
11 | HG01109.hp2 HG01167.hp2 HG02523.hp1 others(8): Show |
intron_variant | MODIFIER | c.1941+1226_1941+122 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | |||||||
chr12:119774558 | ATG | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1941+1226_1941+122 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | |||||||
chr12:119774558 | ATGTG | A | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1941+1224_1941+122 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | |||||||
chr12:119774558 | ATGTGTG | A | 4 | a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0017t0003g0012 others(1): Show |
4 | HG02559.hp1 NA18906.hp2 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.1941+1222_1941+122 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | |||||||
chr12:119774558 | ATGTGTGT others(1): Show |
A | 110 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(107): Show |
110 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(107): Show |
intron_variant | MODIFIER | c.1941+1220_1941+122 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774558 | |||||||
chr12:119774834 | T | C | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1941+952A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119774834 | |||||||
chr12:119775023 | A | G | 107 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(104): Show |
107 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.1941+763T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775023 | |||||||
chr12:119775032 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1941+754C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775032 | |||||||
chr12:119775070 | C | T | 3 | a0001c0002t0001g0070 a0001c0002t0002g0076 a0001c0002t0002g0083 |
3 | NA18998.hp2 NA19012.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1941+716G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775070 | |||||||
chr12:119775180 | A | G | 118 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(115): Show |
118 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(115): Show |
intron_variant | MODIFIER | c.1941+606T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775180 | |||||||
chr12:119775254 | C | G | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1941+532G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775254 | |||||||
chr12:119775280 | A | T | 3 | a0001c0017t0003g0012 a0001c0017t0003g0013 a0001c0030t0005g0032 |
3 | HG02559.hp1 HG02895.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1941+506T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775280 | |||||||
chr12:119775281 | A | T | 177 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(174): Show |
177 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(174): Show |
intron_variant | MODIFIER | c.1941+505T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775281 | |||||||
chr12:119775289 | T | A | 1 | a0001c0001t0001g0129 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1941+497A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775289 | |||||||
chr12:119775343 | A | C | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1941+443T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775343 | |||||||
chr12:119775388 | C | T | 1 | a0001c0001t0004g0163 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1941+398G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775388 | |||||||
chr12:119775409 | G | T | 4 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(1): Show |
4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1941+377C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775409 | |||||||
chr12:119775593 | C | T | 1 | a0001c0002t0020g0069 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1941+193G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | 119775593 | |||||||
chr12:119776032 | A | G | 111 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(108): Show |
111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1888-193T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 15/47 | chr12 | 119776032 | |||||||
chr12:119776878 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-36C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119776878 | |||||||
chr12:119777131 | T | C | 10 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(7): Show |
10 | HG02717.hp1 HG02886.hp1 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.1666-289A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777131 | |||||||
chr12:119777203 | C | T | 111 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(108): Show |
111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1666-361G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777203 | |||||||
chr12:119777210 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-368C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777210 | |||||||
chr12:119777265 | A | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(111): Show |
114 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(111): Show |
intron_variant | MODIFIER | c.1666-423T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777265 | |||||||
chr12:119777271 | C | G | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1666-429G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777271 | |||||||
chr12:119777331 | G | A | 3 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0008g0134 |
3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.1666-489C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777331 | |||||||
chr12:119777393 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-551G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777393 | |||||||
chr12:119777530 | T | C | 111 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(108): Show |
111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1666-688A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777530 | |||||||
chr12:119777539 | G | A | 1 | a0001c0002t0004g0073 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1666-697C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777539 | |||||||
chr12:119777673 | A | G | 6 | a0001c0006t0001g0146 a0001c0006t0012g0115 a0001c0006t0012g0128 others(3): Show |
6 | NA18969.hp1 NA18973.hp1 NA18991.hp2 others(3): Show |
intron_variant | MODIFIER | c.1666-831T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777673 | |||||||
chr12:119777677 | C | CA | 102 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(99): Show |
102 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.1666-836dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777677 | |||||||
chr12:119777677 | C | CAA | 6 | a0001c0006t0012g0115 a0001c0006t0012g0128 a0001c0006t0012g0141 others(3): Show |
6 | HG06807.hp1 NA18969.hp1 NA18973.hp1 others(3): Show |
intron_variant | MODIFIER | c.1666-837_1666-836d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777677 | |||||||
chr12:119777892 | G | A | 3 | a0001c0001t0001g0010 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-1050C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777892 | |||||||
chr12:119777966 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-1124A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119777966 | |||||||
chr12:119778060 | G | A | 111 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(108): Show |
111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1666-1218C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778060 | |||||||
chr12:119778553 | C | T | 111 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(108): Show |
111 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show |
intron_variant | MODIFIER | c.1666-1711G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778553 | |||||||
chr12:119778650 | C | A | 108 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(105): Show |
108 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.1666-1808G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778650 | |||||||
chr12:119778653 | A | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1666-1811T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778653 | |||||||
chr12:119778806 | T | C | 108 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(105): Show |
108 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.1666-1964A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778806 | |||||||
chr12:119778871 | A | G | 1 | a0001c0003t0003g0127 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1666-2029T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119778871 | |||||||
chr12:119779102 | C | T | 3 | a0001c0001t0002g0188 a0001c0003t0017g0060 a0002c0016t0001g0061 |
3 | HG02451.hp2 HG02818.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1666-2260G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779102 | |||||||
chr12:119779283 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1666-2441G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779283 | |||||||
chr12:119779324 | T | A | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1666-2482A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779324 | |||||||
chr12:119779495 | T | C | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1666-2653A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779495 | |||||||
chr12:119779638 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1666-2796C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779638 | |||||||
chr12:119779928 | G | T | 19 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(16): Show |
19 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.1665+2590C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779928 | |||||||
chr12:119779965 | G | C | 2 | a0001c0001t0001g0047 a0001c0001t0001g0180 |
2 | HG00280.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.1665+2553C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119779965 | |||||||
chr12:119780035 | C | T | 108 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(105): Show |
108 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.1665+2483G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780035 | |||||||
chr12:119780149 | T | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(89): Show |
92 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1665+2369A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780149 | |||||||
chr12:119780304 | G | A | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1665+2214C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780304 | |||||||
chr12:119780547 | G | A | 1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1665+1971C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119780547 | |||||||
chr12:119781260 | G | A | 144 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(141): Show |
144 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(141): Show |
intron_variant | MODIFIER | c.1665+1258C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781260 | |||||||
chr12:119781503 | T | C | 1 | a0001c0001t0002g0126 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1665+1015A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781503 | |||||||
chr12:119781669 | G | GAA | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1665+847_1665+848d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781669 | |||||||
chr12:119781966 | GC | G | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1665+551delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119781966 | |||||||
chr12:119782108 | T | C | 20 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(17): Show |
20 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(17): Show |
intron_variant | MODIFIER | c.1665+410A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782108 | |||||||
chr12:119782137 | T | C | 2 | a0002c0004t0011g0035 a0002c0004t0011g0038 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1665+381A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782137 | |||||||
chr12:119782242 | C | T | 125 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
125 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show |
intron_variant | MODIFIER | c.1665+276G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782242 | |||||||
chr12:119782478 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1665+40T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 13/47 | chr12 | 119782478 | |||||||
chr12:119782785 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1546-148G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782785 | |||||||
chr12:119782817 | C | T | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1546-180G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782817 | |||||||
chr12:119782847 | A | AG | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1546-211dupC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119782847 | |||||||
chr12:119783648 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1545+260C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783648 | |||||||
chr12:119783682 | C | T | 1 | a0001c0001t0004g0204 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1545+226G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783682 | |||||||
chr12:119783711 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1545+197C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783711 | |||||||
chr12:119783738 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1545+170G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783738 | |||||||
chr12:119783832 | C | T | 78 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(75): Show |
78 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.1545+76G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 12/47 | chr12 | 119783832 | |||||||
chr12:119784116 | A | C | 1 | a0001c0001t0008g0134 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1402-65T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784116 | |||||||
chr12:119784127 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1402-76C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784127 | |||||||
chr12:119784245 | T | A | 1 | a0001c0002t0014g0236 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1402-194A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784245 | |||||||
chr12:119784452 | G | A | 3 | a0001c0001t0002g0188 a0001c0003t0017g0060 a0002c0016t0001g0061 |
3 | HG02451.hp2 HG02818.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1402-401C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784452 | |||||||
chr12:119784625 | G | A | 1 | a0010c0024t0002g0077 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1401+335C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784625 | |||||||
chr12:119784820 | G | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1401+140C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 11/47 | chr12 | 119784820 | |||||||
chr12:119785234 | A | C | 1 | a0001c0001t0001g0121 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1296-169T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785234 | |||||||
chr12:119785477 | A | C | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1296-412T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785477 | |||||||
chr12:119785518 | T | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-453A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785518 | |||||||
chr12:119785561 | C | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296-496G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785561 | |||||||
chr12:119785562 | G | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1296-497C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785562 | |||||||
chr12:119785565 | CT | C | 95 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(92): Show |
95 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.1296-501delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785565 | |||||||
chr12:119785623 | GTGCAACC others(9): Show |
G | 2 | a0001c0002t0002g0045 a0001c0002t0002g0046 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1296-574_1296-559d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785623 | |||||||
chr12:119785643 | A | T | 3 | a0001c0001t0001g0010 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-578T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785643 | |||||||
chr12:119785645 | C | A | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1296-580G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785645 | |||||||
chr12:119785757 | T | G | 3 | a0001c0001t0001g0010 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-692A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785757 | |||||||
chr12:119785964 | T | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-899A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119785964 | |||||||
chr12:119786180 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-1115C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786180 | |||||||
chr12:119786320 | A | T | 4 | a0001c0013t0005g0029 a0002c0004t0011g0035 a0002c0004t0011g0038 others(1): Show |
4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-1255T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786320 | |||||||
chr12:119786421 | G | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-1356C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786421 | |||||||
chr12:119786547 | T | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-1482A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786547 | |||||||
chr12:119786806 | C | T | 1 | a0001c0009t0009g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1296-1741G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119786806 | |||||||
chr12:119787115 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-2050G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787115 | |||||||
chr12:119787129 | T | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1296-2064A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787129 | |||||||
chr12:119787185 | A | G | 86 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(83): Show |
86 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1296-2120T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787185 | |||||||
chr12:119787432 | TA | T | 145 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(142): Show |
145 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(142): Show |
intron_variant | MODIFIER | c.1296-2368delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787432 | |||||||
chr12:119787648 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-2583T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787648 | |||||||
chr12:119787655 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-2590G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787655 | |||||||
chr12:119787706 | G | A | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1296-2641C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787706 | |||||||
chr12:119787717 | T | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-2652A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787717 | |||||||
chr12:119787730 | C | CA | 10 | a0001c0001t0021g0171 a0001c0002t0002g0222 a0001c0003t0003g0182 others(7): Show |
10 | HG01243.hp1 HG01243.hp2 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.1296-2666dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | |||||||
chr12:119787730 | C | CAA | 5 | a0001c0001t0001g0125 a0001c0001t0002g0126 a0001c0008t0001g0210 others(2): Show |
5 | HG02109.hp2 HG02165.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296-2667_1296-266 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | |||||||
chr12:119787730 | C | CAAAAA | 68 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(65): Show |
68 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.1296-2670_1296-266 others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | |||||||
chr12:119787730 | C | CAAAAAA | 19 | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0034 others(16): Show |
19 | HG01081.hp1 HG02257.hp2 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1296-2671_1296-266 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787730 | |||||||
chr12:119787761 | TA | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-2697delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787761 | |||||||
chr12:119787763 | A | T | 3 | a0001c0001t0001g0010 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-2698T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787763 | |||||||
chr12:119787908 | G | C | 147 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(144): Show |
147 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(144): Show |
intron_variant | MODIFIER | c.1296-2843C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787908 | |||||||
chr12:119787981 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-2916G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119787981 | |||||||
chr12:119788196 | C | T | 7 | a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0053 others(4): Show |
7 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296-3131G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788196 | |||||||
chr12:119788204 | A | G | 1 | a0001c0005t0010g0216 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1296-3139T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788204 | |||||||
chr12:119788238 | A | AC | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296-3174dupG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788238 | |||||||
chr12:119788269 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-3204T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788269 | |||||||
chr12:119788370 | C | G | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-3305G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788370 | |||||||
chr12:119788408 | G | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-3343C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788408 | |||||||
chr12:119788451 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-3386A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788451 | |||||||
chr12:119788593 | G | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-3528C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788593 | |||||||
chr12:119788628 | C | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-3563G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788628 | |||||||
chr12:119788743 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1296-3678C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119788743 | |||||||
chr12:119789059 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-3994T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789059 | |||||||
chr12:119789114 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-4049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789114 | |||||||
chr12:119789119 | A | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show |
91 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1296-4054T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789119 | |||||||
chr12:119789194 | T | C | 90 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(87): Show |
90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-4129A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789194 | |||||||
chr12:119789206 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1296-4141T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789206 | |||||||
chr12:119789526 | T | C | 8 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 others(5): Show |
8 | HG02559.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.1296-4461A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789526 | |||||||
chr12:119789578 | A | C | 89 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show |
89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-4513T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789578 | |||||||
chr12:119789614 | A | T | 5 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296-4549T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789614 | |||||||
chr12:119789616 | G | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show |
89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-4551C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789616 | |||||||
chr12:119789730 | C | T | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1296-4665G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789730 | |||||||
chr12:119789743 | C | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-4678G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789743 | |||||||
chr12:119789758 | G | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-4693C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789758 | |||||||
chr12:119789864 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-4799G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789864 | |||||||
chr12:119789872 | A | ATT | 6 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(3): Show |
6 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.1296-4809_1296-480 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789872 | |||||||
chr12:119789936 | A | G | 201 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(198): Show |
201 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(198): Show |
intron_variant | MODIFIER | c.1296-4871T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789936 | |||||||
chr12:119789958 | C | T | 71 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0005g0020 others(68): Show |
71 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(68): Show |
intron_variant | MODIFIER | c.1296-4893G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119789958 | |||||||
chr12:119790006 | A | G | 89 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show |
89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-4941T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790006 | |||||||
chr12:119790010 | G | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(86): Show |
89 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1296-4945C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790010 | |||||||
chr12:119790043 | C | T | 1 | a0001c0002t0013g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1296-4978G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790043 | |||||||
chr12:119790079 | C | A | 1 | a0001c0001t0001g0122 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1296-5014G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790079 | |||||||
chr12:119790089 | C | A | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0175 others(1): Show |
4 | HG01258.hp1 HG03239.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-5024G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790089 | |||||||
chr12:119790164 | T | C | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1296-5099A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790164 | |||||||
chr12:119790268 | G | A | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296-5203C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790268 | |||||||
chr12:119790268 | G | T | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-5203C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790268 | |||||||
chr12:119790394 | T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-5329A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790394 | |||||||
chr12:119790718 | TA | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-5654delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790718 | |||||||
chr12:119790740 | T | C | 90 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(87): Show |
90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-5675A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790740 | |||||||
chr12:119790899 | T | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1296-5834A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790899 | |||||||
chr12:119790988 | T | C | 90 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(87): Show |
90 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1296-5923A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119790988 | |||||||
chr12:119791142 | G | C | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1296-6077C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791142 | |||||||
chr12:119791840 | T | C | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296-6775A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791840 | |||||||
chr12:119791867 | G | A | 10 | a0001c0001t0001g0010 a0001c0005t0010g0216 a0001c0005t0010g0217 others(7): Show |
10 | HG01109.hp1 HG02257.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.1296-6802C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791867 | |||||||
chr12:119791876 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1296-6811A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791876 | |||||||
chr12:119791898 | T | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-6833A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119791898 | |||||||
chr12:119792019 | T | A | 4 | a0001c0001t0001g0009 a0001c0008t0001g0210 a0001c0008t0001g0211 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-6954A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792019 | |||||||
chr12:119792138 | G | A | 39 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(36): Show |
39 | HG01109.hp1 HG01928.hp1 HG01934.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296-7073C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792138 | |||||||
chr12:119792462 | T | A | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1296-7397A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792462 | |||||||
chr12:119792602 | T | A | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-7537A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792602 | |||||||
chr12:119792677 | G | A | 4 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(1): Show |
4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-7612C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792677 | |||||||
chr12:119792702 | C | T | 233 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(230): Show |
233 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(230): Show |
intron_variant | MODIFIER | c.1296-7637G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792702 | |||||||
chr12:119792703 | A | G | 233 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(230): Show |
233 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(230): Show |
intron_variant | MODIFIER | c.1296-7638T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792703 | |||||||
chr12:119792836 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296-7771G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792836 | |||||||
chr12:119792882 | A | C | 4 | a0001c0001t0001g0009 a0001c0008t0001g0210 a0001c0008t0001g0211 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296-7817T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792882 | |||||||
chr12:119792894 | G | A | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1296-7829C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792894 | |||||||
chr12:119792895 | G | C | 1 | a0006c0020t0001g0027 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1296-7830C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792895 | |||||||
chr12:119792905 | T | C | 25 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(22): Show |
25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1296-7840A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792905 | |||||||
chr12:119792918 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1296-7853G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792918 | |||||||
chr12:119792939 | C | T | 1 | a0001c0001t0001g0179 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1296-7874G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119792939 | |||||||
chr12:119793074 | C | A | 1 | a0001c0010t0002g0103 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1296-8009G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793074 | |||||||
chr12:119793275 | C | T | 87 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(84): Show |
87 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1296-8210G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793275 | |||||||
chr12:119793293 | C | CT | 4 | a0001c0002t0013g0048 a0001c0002t0013g0071 a0001c0012t0002g0101 others(1): Show |
4 | HG00738.hp1 HG00741.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296-8229dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793293 | |||||||
chr12:119793601 | A | T | 21 | a0001c0001t0001g0010 a0001c0001t0005g0020 a0001c0005t0008g0021 others(18): Show |
21 | HG01168.hp1 HG01169.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.1296-8536T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793601 | |||||||
chr12:119793849 | T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-8784A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119793849 | |||||||
chr12:119794073 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1296-9008G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794073 | |||||||
chr12:119794156 | CA | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+9049delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794156 | |||||||
chr12:119794270 | G | GTGAA | 35 | a0001c0001t0005g0020 a0001c0001t0008g0134 a0001c0003t0003g0024 others(32): Show |
35 | HG00733.hp1 HG01106.hp1 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.1295+8932_1295+893 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794270 | |||||||
chr12:119794270 | G | GTGAATGA others(1): Show |
2 | a0001c0007t0005g0030 a0001c0007t0005g0062 |
2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1295+8928_1295+893 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794270 | |||||||
chr12:119794457 | T | C | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8749A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794457 | |||||||
chr12:119794458 | G | A | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8748C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794458 | |||||||
chr12:119794663 | A | G | 151 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(148): Show |
151 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.1295+8543T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794663 | |||||||
chr12:119794667 | G | A | 20 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(17): Show |
20 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295+8539C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794667 | |||||||
chr12:119794769 | G | A | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1295+8437C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794769 | |||||||
chr12:119794842 | A | G | 21 | a0001c0001t0001g0010 a0001c0001t0005g0020 a0001c0005t0008g0021 others(18): Show |
21 | HG01168.hp1 HG01169.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.1295+8364T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794842 | |||||||
chr12:119794936 | G | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+8270C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794936 | |||||||
chr12:119794981 | G | A | 25 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(22): Show |
25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+8225C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119794981 | |||||||
chr12:119795147 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+8059G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795147 | |||||||
chr12:119795177 | T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+8029A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795177 | |||||||
chr12:119795319 | G | A | 2 | a0001c0001t0002g0120 a0001c0001t0002g0143 |
2 | NA18960.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1295+7887C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795319 | |||||||
chr12:119795349 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7857G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795349 | |||||||
chr12:119795366 | A | G | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1295+7840T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795366 | |||||||
chr12:119795442 | T | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7764A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795442 | |||||||
chr12:119795469 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7737G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795469 | |||||||
chr12:119795526 | C | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+7680G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795526 | |||||||
chr12:119795797 | T | C | 72 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(69): Show |
72 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.1295+7409A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119795797 | |||||||
chr12:119796006 | G | T | 4 | a0001c0013t0005g0029 a0002c0004t0011g0035 a0002c0004t0011g0038 others(1): Show |
4 | HG01168.hp1 HG01169.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295+7200C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796006 | |||||||
chr12:119796067 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1295+7139G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796067 | |||||||
chr12:119796128 | C | T | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1295+7078G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796128 | |||||||
chr12:119796224 | G | A | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02647.hp2 HG02717.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295+6982C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796224 | |||||||
chr12:119796301 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1295+6905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796301 | |||||||
chr12:119796337 | A | T | 72 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(69): Show |
72 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(69): Show |
intron_variant | MODIFIER | c.1295+6869T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796337 | |||||||
chr12:119796424 | T | C | 70 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0005g0020 others(67): Show |
70 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.1295+6782A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796424 | |||||||
chr12:119796572 | G | C | 86 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(83): Show |
86 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1295+6634C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796572 | |||||||
chr12:119796665 | C | T | 70 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0005g0020 others(67): Show |
70 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.1295+6541G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796665 | |||||||
chr12:119796742 | A | T | 1 | a0001c0012t0002g0203 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1295+6464T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119796742 | |||||||
chr12:119797066 | A | G | 80 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(77): Show |
80 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(77): Show |
intron_variant | MODIFIER | c.1295+6140T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797066 | |||||||
chr12:119797208 | C | CA | 3 | a0001c0001t0001g0034 a0001c0009t0009g0036 a0001c0009t0009g0043 |
3 | HG02630.hp1 HG02809.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1295+5997dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797208 | |||||||
chr12:119797627 | C | T | 1 | a0001c0001t0001g0121 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1295+5579G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119797627 | |||||||
chr12:119798068 | C | T | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1295+5138G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798068 | |||||||
chr12:119798311 | C | G | 1 | a0001c0002t0002g0081 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1295+4895G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798311 | |||||||
chr12:119798336 | G | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+4870C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798336 | |||||||
chr12:119798678 | T | C | 201 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(198): Show |
201 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(198): Show |
intron_variant | MODIFIER | c.1295+4528A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798678 | |||||||
chr12:119798716 | G | A | 25 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(22): Show |
25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+4490C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798716 | |||||||
chr12:119798860 | G | A | 2 | a0001c0001t0001g0202 a0001c0001t0004g0204 |
2 | NA18984.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.1295+4346C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798860 | |||||||
chr12:119798939 | A | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1295+4267T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798939 | |||||||
chr12:119798950 | T | C | 97 | a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0001g0174 others(94): Show |
97 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(94): Show |
intron_variant | MODIFIER | c.1295+4256A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119798950 | |||||||
chr12:119799501 | T | C | 1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.1295+3705A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799501 | |||||||
chr12:119799836 | T | C | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1295+3370A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799836 | |||||||
chr12:119799841 | G | GT | 18 | a0001c0001t0003g0106 a0001c0002t0002g0089 a0001c0002t0002g0155 others(15): Show |
18 | HG01109.hp1 HG01515.hp1 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1295+3364dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799841 | |||||||
chr12:119799841 | G | GTT | 84 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(81): Show |
84 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.1295+3363_1295+336 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799841 | |||||||
chr12:119799921 | C | T | 25 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(22): Show |
25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+3285G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799921 | |||||||
chr12:119799987 | C | T | 78 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(75): Show |
78 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.1295+3219G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119799987 | |||||||
chr12:119800038 | C | G | 25 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0200 others(22): Show |
25 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.1295+3168G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800038 | |||||||
chr12:119800189 | T | G | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+3017A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800189 | |||||||
chr12:119800470 | A | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1295+2736T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800470 | |||||||
chr12:119800693 | C | T | 72 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(69): Show |
72 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.1295+2513G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119800693 | |||||||
chr12:119801389 | G | A | 88 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1295+1817C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801389 | |||||||
chr12:119801493 | C | T | 14 | a0001c0013t0005g0029 a0001c0015t0006g0004 a0002c0004t0003g0044 others(11): Show |
14 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.1295+1713G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801493 | |||||||
chr12:119801608 | G | A | 1 | a0001c0003t0017g0060 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1295+1598C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801608 | |||||||
chr12:119801690 | G | A | 2 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
2 | HG00738.hp2 HG01069.hp2 |
intron_variant | MODIFIER | c.1295+1516C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119801690 | |||||||
chr12:119802128 | A | G | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1295+1078T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802128 | |||||||
chr12:119802161 | G | A | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1295+1045C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802161 | |||||||
chr12:119802292 | G | A | 2 | a0001c0001t0006g0124 a0001c0001t0016g0123 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1295+914C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802292 | |||||||
chr12:119802344 | A | C | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+862T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802344 | |||||||
chr12:119802389 | C | T | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295+817G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802389 | |||||||
chr12:119802557 | G | A | 2 | a0001c0005t0010g0042 a0001c0005t0022g0041 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1295+649C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119802557 | |||||||
chr12:119803158 | A | G | 2 | a0001c0005t0010g0042 a0001c0005t0022g0041 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1295+48T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | 119803158 | |||||||
chr12:119803433 | T | A | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1112-44A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803433 | |||||||
chr12:119803441 | G | A | 4 | a0001c0001t0001g0009 a0001c0008t0001g0210 a0001c0008t0001g0211 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-52C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803441 | |||||||
chr12:119803454 | T | C | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1112-65A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803454 | |||||||
chr12:119803640 | T | TCACTTGG others(11): Show |
1 | a0001c0002t0001g0087 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.1112-269_1112-252d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803640 | |||||||
chr12:119803760 | T | A | 4 | a0001c0001t0001g0009 a0001c0008t0001g0210 a0001c0008t0001g0211 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-371A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803760 | |||||||
chr12:119803988 | C | CT | 19 | a0001c0001t0001g0172 a0001c0001t0005g0020 a0001c0005t0008g0021 others(16): Show |
19 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(16): Show |
intron_variant | MODIFIER | c.1112-600dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803988 | |||||||
chr12:119803988 | C | CTT | 6 | a0001c0001t0001g0009 a0001c0008t0001g0210 a0001c0008t0001g0211 others(3): Show |
6 | HG00733.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.1112-601_1112-600d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119803988 | |||||||
chr12:119804081 | CAAAT | C | 6 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-696_1112-693d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804081 | |||||||
chr12:119804085 | T | C | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1112-696A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804085 | |||||||
chr12:119804201 | T | C | 1 | a0001c0017t0003g0012 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1112-812A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804201 | |||||||
chr12:119804210 | C | G | 54 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(51): Show |
54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-821G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804210 | |||||||
chr12:119804458 | C | T | 54 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0156 others(51): Show |
54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-1069G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804458 | |||||||
chr12:119804516 | C | G | 3 | a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0015g0094 |
3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1127G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804516 | |||||||
chr12:119804517 | G | C | 3 | a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0015g0094 |
3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1128C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804517 | |||||||
chr12:119804518 | C | A | 3 | a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0015g0094 |
3 | HG01168.hp2 HG01928.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.1112-1129G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804518 | |||||||
chr12:119804530 | A | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1112-1141T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804530 | |||||||
chr12:119804586 | T | C | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1112-1197A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119804586 | |||||||
chr12:119805041 | A | G | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1112-1652T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805041 | |||||||
chr12:119805076 | C | CA | 200 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(197): Show |
200 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(197): Show |
intron_variant | MODIFIER | c.1112-1688dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805076 | |||||||
chr12:119805152 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1112-1763G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805152 | |||||||
chr12:119805261 | C | G | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1112-1872G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805261 | |||||||
chr12:119805432 | C | T | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-2043G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805432 | |||||||
chr12:119805544 | C | T | 1 | a0001c0013t0003g0025 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1112-2155G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805544 | |||||||
chr12:119805656 | T | C | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-2267A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805656 | |||||||
chr12:119805695 | A | G | 185 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(182): Show |
185 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(182): Show |
intron_variant | MODIFIER | c.1112-2306T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805695 | |||||||
chr12:119805998 | G | A | 1 | a0001c0001t0001g0010 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1112-2609C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805998 | |||||||
chr12:119805999 | T | C | 1 | a0001c0002t0001g0058 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1112-2610A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119805999 | |||||||
chr12:119806125 | G | A | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1112-2736C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806125 | |||||||
chr12:119806129 | C | T | 2 | a0001c0012t0002g0101 a0001c0012t0002g0203 |
2 | HG03710.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.1112-2740G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806129 | |||||||
chr12:119806133 | A | G | 205 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(202): Show |
205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.1112-2744T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806133 | |||||||
chr12:119806137 | C | CA | 47 | a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0195 others(44): Show |
47 | HG00280.hp1 HG00735.hp2 HG01069.hp1 others(44): Show |
intron_variant | MODIFIER | c.1112-2749dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | |||||||
chr12:119806137 | C | CAA | 24 | a0001c0001t0001g0174 a0001c0001t0004g0161 a0001c0001t0004g0166 others(21): Show |
24 | HG01168.hp1 HG01243.hp1 HG02258.hp1 others(21): Show |
intron_variant | MODIFIER | c.1112-2750_1112-274 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | |||||||
chr12:119806137 | C | CAAAA | 10 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(7): Show |
10 | HG02451.hp1 HG02630.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.1112-2752_1112-274 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | |||||||
chr12:119806137 | CA | C | 118 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(115): Show |
118 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(115): Show |
intron_variant | MODIFIER | c.1112-2749delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | |||||||
chr12:119806137 | CAA | C | 14 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0006g0116 others(11): Show |
14 | HG00408.hp1 HG00733.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.1112-2750_1112-274 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806137 | |||||||
chr12:119806508 | A | T | 54 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(51): Show |
54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.1112-3119T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806508 | |||||||
chr12:119806556 | G | C | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-3167C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806556 | |||||||
chr12:119806893 | T | G | 205 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(202): Show |
205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.1112-3504A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806893 | |||||||
chr12:119806999 | C | T | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-3610G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119806999 | |||||||
chr12:119807429 | T | G | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.1112-4040A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807429 | |||||||
chr12:119807468 | A | AT | 15 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(12): Show |
15 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.1112-4080dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807468 | |||||||
chr12:119807791 | G | A | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1112-4402C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807791 | |||||||
chr12:119807840 | A | T | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-4451T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807840 | |||||||
chr12:119807890 | T | TA | 13 | a0001c0001t0005g0020 a0001c0005t0008g0215 a0001c0005t0010g0042 others(10): Show |
13 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1112-4502dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119807890 | |||||||
chr12:119808039 | T | A | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1112-4650A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808039 | |||||||
chr12:119808039 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-4650A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808039 | |||||||
chr12:119808197 | C | T | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1112-4808G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808197 | |||||||
chr12:119808525 | T | TA | 5 | a0001c0001t0004g0156 a0001c0002t0013g0048 a0001c0002t0013g0071 others(2): Show |
5 | HG00738.hp1 HG00741.hp1 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-5137dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808525 | |||||||
chr12:119808538 | T | C | 1 | a0001c0003t0003g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1112-5149A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119808538 | |||||||
chr12:119809022 | T | C | 28 | a0001c0001t0001g0034 a0001c0001t0005g0020 a0001c0003t0003g0037 others(25): Show |
28 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(25): Show |
intron_variant | MODIFIER | c.1112-5633A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809022 | |||||||
chr12:119809173 | G | A | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-5784C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809173 | |||||||
chr12:119809238 | G | C | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1112-5849C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809238 | |||||||
chr12:119809253 | C | T | 1 | a0001c0027t0002g0079 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1112-5864G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809253 | |||||||
chr12:119809340 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1112-5951A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809340 | |||||||
chr12:119809647 | G | A | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1112-6258C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119809647 | |||||||
chr12:119810198 | A | C | 1 | a0001c0001t0002g0138 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1112-6809T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810198 | |||||||
chr12:119810601 | G | C | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1112-7212C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810601 | |||||||
chr12:119810706 | G | GA | 8 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(5): Show |
8 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.1112-7318dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | |||||||
chr12:119810706 | GA | G | 171 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(168): Show |
171 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(168): Show |
intron_variant | MODIFIER | c.1112-7318delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | |||||||
chr12:119810706 | GAA | G | 22 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0225 others(19): Show |
22 | HG01167.hp2 HG01257.hp1 HG01928.hp1 others(19): Show |
intron_variant | MODIFIER | c.1112-7319_1112-731 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810706 | |||||||
chr12:119810837 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1112-7448A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119810837 | |||||||
chr12:119811185 | G | C | 1 | a0001c0011t0009g0098 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1112-7796C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811185 | |||||||
chr12:119811222 | G | A | 5 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0175 others(2): Show |
5 | HG01258.hp1 HG03239.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1112-7833C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811222 | |||||||
chr12:119811585 | T | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1112-8196A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811585 | |||||||
chr12:119811616 | C | T | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1112-8227G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811616 | |||||||
chr12:119811735 | C | T | 21 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(18): Show |
21 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-8346G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811735 | |||||||
chr12:119811846 | A | C | 21 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(18): Show |
21 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-8457T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811846 | |||||||
chr12:119811943 | A | AT | 72 | a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0100 others(69): Show |
72 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.1112-8555dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | |||||||
chr12:119811943 | A | ATT | 5 | a0001c0001t0001g0001 a0001c0001t0001g0230 a0001c0001t0004g0170 others(2): Show |
5 | HG03492.hp1 NA18955.hp1 NA18955.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-8556_1112-855 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | |||||||
chr12:119811943 | AT | A | 25 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(22): Show |
25 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.1112-8555delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | |||||||
chr12:119811943 | ATTTT | A | 6 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(3): Show |
6 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-8558_1112-855 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119811943 | |||||||
chr12:119812136 | C | T | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1112-8747G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812136 | |||||||
chr12:119812173 | T | C | 203 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(200): Show |
203 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(200): Show |
intron_variant | MODIFIER | c.1112-8784A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812173 | |||||||
chr12:119812251 | C | A | 1 | a0001c0017t0003g0012 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1112-8862G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812251 | |||||||
chr12:119812399 | C | T | 5 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(2): Show |
5 | HG02717.hp2 HG02723.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1112-9010G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812399 | |||||||
chr12:119812629 | G | A | 171 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(168): Show |
171 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(168): Show |
intron_variant | MODIFIER | c.1112-9240C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812629 | |||||||
chr12:119812701 | A | G | 179 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(176): Show |
179 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(176): Show |
intron_variant | MODIFIER | c.1112-9312T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812701 | |||||||
chr12:119812745 | AT | A | 188 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(185): Show |
188 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.1112-9357delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812745 | |||||||
chr12:119812745 | ATT | A | 6 | a0001c0002t0002g0066 a0001c0003t0017g0060 a0001c0008t0001g0210 others(3): Show |
6 | HG00733.hp1 HG02280.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1112-9358_1112-935 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812745 | |||||||
chr12:119812950 | T | C | 1 | a0001c0010t0002g0103 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1112-9561A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119812950 | |||||||
chr12:119813054 | C | A | 22 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(19): Show |
22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1112-9665G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813054 | |||||||
chr12:119813254 | C | T | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+9566G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813254 | |||||||
chr12:119813576 | A | G | 180 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(177): Show |
180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.1111+9244T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813576 | |||||||
chr12:119813693 | A | G | 1 | a0001c0030t0005g0032 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1111+9127T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813693 | |||||||
chr12:119813871 | G | A | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+8949C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119813871 | |||||||
chr12:119814086 | T | C | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1111+8734A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814086 | |||||||
chr12:119814234 | G | T | 22 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(19): Show |
22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1111+8586C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814234 | |||||||
chr12:119814328 | C | G | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1111+8492G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814328 | |||||||
chr12:119814471 | C | T | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+8349G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814471 | |||||||
chr12:119814503 | C | T | 1 | a0001c0002t0002g0090 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1111+8317G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814503 | |||||||
chr12:119814794 | T | C | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1111+8026A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814794 | |||||||
chr12:119814992 | C | T | 162 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(159): Show |
162 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
intron_variant | MODIFIER | c.1111+7828G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119814992 | |||||||
chr12:119815008 | A | T | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1111+7812T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815008 | |||||||
chr12:119815037 | C | CA | 15 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0049 others(12): Show |
15 | HG01109.hp1 HG02451.hp1 HG02523.hp2 others(12): Show |
intron_variant | MODIFIER | c.1111+7782dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815037 | |||||||
chr12:119815066 | G | A | 174 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(171): Show |
174 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(171): Show |
intron_variant | MODIFIER | c.1111+7754C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815066 | |||||||
chr12:119815104 | CA | C | 23 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(20): Show |
23 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(20): Show |
intron_variant | MODIFIER | c.1111+7715delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815104 | |||||||
chr12:119815105 | AAC | A | 7 | a0001c0003t0003g0182 a0001c0003t0003g0208 a0001c0003t0003g0209 others(4): Show |
7 | HG01243.hp1 HG02630.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.1111+7713_1111+771 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | |||||||
chr12:119815105 | AACAC | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0132 others(12): Show |
15 | HG01258.hp1 HG02451.hp1 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.1111+7711_1111+771 others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | |||||||
chr12:119815105 | AACACAC | A | 141 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1111+7709_1111+771 others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | |||||||
chr12:119815105 | AACACACA others(1): Show |
A | 13 | a0001c0013t0005g0029 a0001c0015t0006g0004 a0002c0004t0003g0044 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1111+7707_1111+771 others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815105 | |||||||
chr12:119815106 | A | C | 1 | a0001c0001t0004g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1111+7714T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815106 | |||||||
chr12:119815107 | C | A | 1 | a0001c0001t0004g0173 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1111+7713G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815107 | |||||||
chr12:119815108 | AC | A | 23 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(20): Show |
23 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(20): Show |
intron_variant | MODIFIER | c.1111+7711delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815108 | |||||||
chr12:119815170 | G | C | 1 | a0001c0001t0001g0100 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.1111+7650C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815170 | |||||||
chr12:119815245 | A | AT | 11 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(8): Show |
11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+7574_1111+757 others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815245 | |||||||
chr12:119815435 | G | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1111+7385C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815435 | |||||||
chr12:119815581 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+7239G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815581 | |||||||
chr12:119815649 | C | T | 172 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(169): Show |
172 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
intron_variant | MODIFIER | c.1111+7171G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815649 | |||||||
chr12:119815854 | G | A | 172 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(169): Show |
172 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
intron_variant | MODIFIER | c.1111+6966C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815854 | |||||||
chr12:119815915 | G | A | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+6905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119815915 | |||||||
chr12:119816043 | T | C | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1111+6777A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816043 | |||||||
chr12:119816341 | C | T | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+6479G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816341 | |||||||
chr12:119816432 | A | G | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1111+6388T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816432 | |||||||
chr12:119816532 | C | T | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1111+6288G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816532 | |||||||
chr12:119816640 | C | T | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+6180G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816640 | |||||||
chr12:119816697 | G | GCTGTTCG others(11): Show |
1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1111+6105_1111+612 others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816697 | |||||||
chr12:119816854 | T | A | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1111+5966A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119816854 | |||||||
chr12:119817003 | C | A | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111+5817G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817003 | |||||||
chr12:119817103 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+5717A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817103 | |||||||
chr12:119817199 | C | G | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1111+5621G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817199 | |||||||
chr12:119817302 | G | C | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1111+5518C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817302 | |||||||
chr12:119817425 | T | C | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1111+5395A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817425 | |||||||
chr12:119817802 | T | C | 48 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0156 others(45): Show |
48 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.1111+5018A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817802 | |||||||
chr12:119817814 | T | A | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+5006A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817814 | |||||||
chr12:119817814 | T | G | 1 | a0001c0002t0002g0083 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1111+5006A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817814 | |||||||
chr12:119817911 | T | TA | 7 | a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0005g0020 others(4): Show |
7 | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+4908dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119817911 | |||||||
chr12:119818180 | G | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1111+4640C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818180 | |||||||
chr12:119818355 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+4465T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818355 | |||||||
chr12:119818372 | T | G | 1 | a0001c0001t0001g0049 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1111+4448A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818372 | |||||||
chr12:119818441 | T | C | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1111+4379A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818441 | |||||||
chr12:119818520 | C | T | 9 | a0001c0005t0010g0216 a0001c0005t0010g0217 a0001c0005t0010g0221 others(6): Show |
9 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111+4300G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818520 | |||||||
chr12:119818549 | G | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+4271C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818549 | |||||||
chr12:119818661 | T | C | 1 | a0001c0006t0024g0112 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1111+4159A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818661 | |||||||
chr12:119818797 | A | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+4023T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119818797 | |||||||
chr12:119819041 | G | A | 1 | a0004c0019t0003g0231 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1111+3779C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819041 | |||||||
chr12:119819078 | G | A | 81 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(78): Show |
81 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.1111+3742C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819078 | |||||||
chr12:119819362 | T | G | 205 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(202): Show |
205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.1111+3458A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819362 | |||||||
chr12:119819410 | A | G | 4 | a0001c0001t0002g0095 a0001c0002t0002g0065 a0001c0002t0002g0074 others(1): Show |
4 | HG02027.hp2 HG02056.hp1 NA18747.hp2 others(1): Show |
intron_variant | MODIFIER | c.1111+3410T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819410 | |||||||
chr12:119819485 | T | C | 1 | a0001c0005t0010g0221 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1111+3335A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819485 | |||||||
chr12:119819700 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+3120A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819700 | |||||||
chr12:119819820 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+3000A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119819820 | |||||||
chr12:119820019 | A | C | 3 | a0001c0001t0001g0133 a0001c0001t0002g0105 a0001c0001t0025g0107 |
3 | NA18747.hp1 NA19000.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1111+2801T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820019 | |||||||
chr12:119820109 | G | A | 11 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(8): Show |
11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+2711C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820109 | |||||||
chr12:119820150 | T | C | 7 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(4): Show |
7 | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1111+2670A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820150 | |||||||
chr12:119820357 | C | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+2463G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820357 | |||||||
chr12:119820498 | C | T | 1 | a0001c0005t0008g0181 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1111+2322G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820498 | |||||||
chr12:119820578 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+2242A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820578 | |||||||
chr12:119820611 | G | A | 11 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(8): Show |
11 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1111+2209C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820611 | |||||||
chr12:119820692 | T | G | 22 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(19): Show |
22 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.1111+2128A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820692 | |||||||
chr12:119820715 | A | C | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1111+2105T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820715 | |||||||
chr12:119820774 | C | G | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1111+2046G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820774 | |||||||
chr12:119820893 | A | G | 1 | a0001c0001t0001g0130 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1111+1927T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119820893 | |||||||
chr12:119821062 | G | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1111+1758C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821062 | |||||||
chr12:119821115 | G | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+1705C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821115 | |||||||
chr12:119821122 | CCT | C | 162 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(159): Show |
162 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
intron_variant | MODIFIER | c.1111+1696_1111+169 others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821122 | |||||||
chr12:119821489 | T | C | 1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1111+1331A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821489 | |||||||
chr12:119821674 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+1146A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821674 | |||||||
chr12:119821875 | G | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
141 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(138): Show |
intron_variant | MODIFIER | c.1111+945C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119821875 | |||||||
chr12:119822120 | G | A | 4 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(1): Show |
4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1111+700C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119822120 | |||||||
chr12:119822144 | T | C | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1111+676A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | 119822144 | |||||||
chr12:119823061 | C | T | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.958-88G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823061 | |||||||
chr12:119823100 | G | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-127C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823100 | |||||||
chr12:119823188 | C | T | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-215G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823188 | |||||||
chr12:119823237 | A | G | 205 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(202): Show |
205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.958-264T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823237 | |||||||
chr12:119823329 | C | A | 1 | a0001c0006t0012g0158 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.958-356G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823329 | |||||||
chr12:119823665 | T | G | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.958-692A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823665 | |||||||
chr12:119823690 | G | A | 1 | a0001c0003t0003g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.958-717C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823690 | |||||||
chr12:119823748 | G | A | 1 | a0001c0005t0010g0221 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.958-775C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823748 | |||||||
chr12:119823751 | C | T | 2 | a0001c0003t0003g0192 a0001c0003t0003g0198 |
2 | HG03209.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.958-778G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823751 | |||||||
chr12:119823849 | A | G | 1 | a0001c0001t0001g0139 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.958-876T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823849 | |||||||
chr12:119823907 | G | A | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.958-934C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119823907 | |||||||
chr12:119824038 | C | CA | 41 | a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0172 others(38): Show |
41 | HG00733.hp1 HG00735.hp2 HG01069.hp2 others(38): Show |
intron_variant | MODIFIER | c.958-1066dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | |||||||
chr12:119824038 | C | CAA | 129 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(126): Show |
129 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(126): Show |
intron_variant | MODIFIER | c.958-1067_958-1066d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | |||||||
chr12:119824038 | C | CAAA | 30 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 others(27): Show |
30 | HG01515.hp1 HG01934.hp2 HG02027.hp2 others(27): Show |
intron_variant | MODIFIER | c.958-1068_958-1066d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824038 | |||||||
chr12:119824108 | G | GTA | 5 | a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0067 others(2): Show |
5 | HG02165.hp1 HG03490.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.957+1055_957+1056d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTA | G | 25 | a0001c0001t0001g0195 a0001c0001t0002g0095 a0001c0001t0004g0104 others(22): Show |
25 | HG00597.hp2 HG01257.hp2 HG01258.hp2 others(22): Show |
intron_variant | MODIFIER | c.957+1055_957+1056d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATA | G | 20 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0180 others(17): Show |
20 | HG00408.hp1 HG00738.hp2 HG00741.hp1 others(17): Show |
intron_variant | MODIFIER | c.957+1053_957+1056d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATA | G | 27 | a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0004g0160 others(24): Show |
27 | HG01081.hp2 HG01106.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.957+1051_957+1056d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATAT others(1): Show |
G | 18 | a0001c0001t0001g0047 a0001c0001t0002g0188 a0001c0001t0004g0161 others(15): Show |
18 | HG00280.hp2 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.957+1049_957+1056d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATAT others(3): Show |
G | 33 | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0129 others(30): Show |
33 | HG00597.hp1 HG00735.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.957+1047_957+1056d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATAT others(5): Show |
G | 65 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0049 others(62): Show |
65 | HG00408.hp2 HG00733.hp2 HG01106.hp2 others(62): Show |
intron_variant | MODIFIER | c.957+1045_957+1056d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATAT others(7): Show |
G | 12 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(9): Show |
12 | HG02559.hp1 HG02622.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.957+1043_957+1056d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824108 | GTATATAT others(9): Show |
G | 18 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(15): Show |
18 | HG00733.hp1 HG02258.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.957+1041_957+1056d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824108 | |||||||
chr12:119824142 | A | G | 1 | a0001c0003t0003g0149 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.957+1023T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824142 | |||||||
chr12:119824397 | C | G | 1 | a0001c0009t0009g0036 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.957+768G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824397 | |||||||
chr12:119824506 | G | A | 2 | a0001c0006t0027g0234 a0009c0032t0001g0028 |
2 | HG03486.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.957+659C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824506 | |||||||
chr12:119824601 | A | T | 1 | a0001c0001t0004g0204 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.957+564T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824601 | |||||||
chr12:119824614 | C | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.957+551G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824614 | |||||||
chr12:119824803 | G | C | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.957+362C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824803 | |||||||
chr12:119824885 | G | A | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.957+280C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824885 | |||||||
chr12:119824891 | C | T | 57 | a0001c0001t0001g0010 a0001c0001t0001g0117 a0001c0001t0001g0118 others(54): Show |
57 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(54): Show |
intron_variant | MODIFIER | c.957+274G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824891 | |||||||
chr12:119824919 | C | T | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.957+246G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | 119824919 | |||||||
chr12:119825482 | G | C | 2 | a0001c0001t0001g0125 a0001c0001t0002g0126 |
2 | HG02165.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.754-114C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825482 | |||||||
chr12:119825540 | TA | T | 146 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(143): Show |
146 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(143): Show |
intron_variant | MODIFIER | c.754-173delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825540 | |||||||
chr12:119825672 | C | CTAATACA others(6): Show |
1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.754-317_754-305dup others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825672 | |||||||
chr12:119825847 | C | A | 1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.754-479G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825847 | |||||||
chr12:119825852 | G | C | 51 | a0001c0001t0001g0034 a0001c0001t0001g0172 a0001c0001t0001g0174 others(48): Show |
51 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(48): Show |
intron_variant | MODIFIER | c.754-484C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825852 | |||||||
chr12:119825929 | G | A | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.754-561C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825929 | |||||||
chr12:119825938 | C | G | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.754-570G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119825938 | |||||||
chr12:119826283 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.754-915C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826283 | |||||||
chr12:119826283 | G | T | 1 | a0001c0001t0002g0138 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.754-915C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826283 | |||||||
chr12:119826292 | C | T | 3 | a0001c0002t0001g0070 a0001c0002t0002g0083 a0001c0002t0002g0092 |
3 | NA18998.hp2 NA19002.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.754-924G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826292 | |||||||
chr12:119826479 | G | C | 9 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(6): Show |
9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.754-1111C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826479 | |||||||
chr12:119826485 | A | T | 1 | a0001c0035t0003g0007 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.754-1117T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826485 | |||||||
chr12:119826537 | A | G | 152 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(149): Show |
152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.754-1169T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826537 | |||||||
chr12:119826585 | G | A | 1 | a0001c0001t0001g0179 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.754-1217C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826585 | |||||||
chr12:119826689 | A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.754-1321T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826689 | |||||||
chr12:119826797 | A | G | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.754-1429T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826797 | |||||||
chr12:119826815 | G | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.754-1447C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826815 | |||||||
chr12:119826880 | G | A | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.754-1512C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826880 | |||||||
chr12:119826943 | C | A | 1 | a0001c0001t0001g0018 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.754-1575G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119826943 | |||||||
chr12:119827222 | G | C | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.754-1854C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827222 | |||||||
chr12:119827357 | T | C | 26 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(23): Show |
26 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(23): Show |
intron_variant | MODIFIER | c.754-1989A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827357 | |||||||
chr12:119827379 | C | T | 1 | a0001c0001t0002g0143 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.754-2011G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827379 | |||||||
chr12:119827383 | G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.754-2015C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827383 | |||||||
chr12:119827442 | A | AT | 203 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(200): Show |
203 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(200): Show |
intron_variant | MODIFIER | c.754-2075dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827442 | |||||||
chr12:119827596 | C | T | 1 | a0001c0001t0004g0164 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.754-2228G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827596 | |||||||
chr12:119827635 | A | G | 1 | a0001c0001t0001g0137 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.754-2267T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827635 | |||||||
chr12:119827947 | C | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.754-2579G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119827947 | |||||||
chr12:119828326 | A | G | 205 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(202): Show |
205 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
intron_variant | MODIFIER | c.754-2958T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828326 | |||||||
chr12:119828346 | ACTG | A | 2 | a0001c0001t0004g0148 a0001c0001t0004g0194 |
2 | HG01928.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.754-2981_754-2979d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828346 | |||||||
chr12:119828357 | C | A | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.754-2989G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828357 | |||||||
chr12:119828448 | C | T | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.754-3080G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828448 | |||||||
chr12:119828571 | A | ATT | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.754-3205_754-3204d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828571 | |||||||
chr12:119828624 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.754-3256C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828624 | |||||||
chr12:119828662 | A | G | 1 | a0001c0001t0001g0200 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.754-3294T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828662 | |||||||
chr12:119828815 | G | A | 11 | a0001c0011t0009g0191 a0001c0013t0005g0029 a0002c0004t0007g0050 others(8): Show |
11 | HG01106.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.754-3447C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828815 | |||||||
chr12:119828892 | A | T | 2 | a0001c0001t0001g0142 a0001c0001t0004g0150 |
2 | NA18983.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.754-3524T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828892 | |||||||
chr12:119828968 | G | C | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.754-3600C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828968 | |||||||
chr12:119828990 | AAAGG | A | 135 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(132): Show |
135 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.754-3626_754-3623d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119828990 | |||||||
chr12:119829242 | G | GCAGGAGA others(3615): Show |
1 | a0001c0026t0002g0154 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.753+3528_753+3529i others(3624): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829242 | |||||||
chr12:119829339 | A | AAGAAGAG others(13): Show |
1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+3431_753+3432i others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829339 | |||||||
chr12:119829339 | A | AAGAGAAG others(5): Show |
1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.753+3431_753+3432i others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829339 | |||||||
chr12:119829344 | A | AAGAAG | 20 | a0001c0001t0001g0010 a0001c0001t0005g0020 a0001c0002t0001g0058 others(17): Show |
20 | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.753+3422_753+3426d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(3): Show |
22 | a0001c0001t0001g0180 a0001c0001t0004g0104 a0001c0002t0001g0093 others(19): Show |
22 | HG00408.hp1 HG00597.hp2 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.753+3417_753+3426d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(8): Show |
20 | a0001c0001t0026g0233 a0001c0002t0001g0070 a0001c0002t0002g0074 others(17): Show |
20 | HG00735.hp2 HG00741.hp1 HG01515.hp1 others(17): Show |
intron_variant | MODIFIER | c.753+3412_753+3426d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(13): Show |
20 | a0001c0001t0002g0188 a0001c0001t0004g0156 a0001c0002t0002g0065 others(17): Show |
20 | HG00738.hp1 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.753+3407_753+3426d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(18): Show |
15 | a0001c0001t0002g0095 a0001c0002t0002g0045 a0001c0002t0002g0046 others(12): Show |
15 | HG01069.hp1 HG01243.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.753+3402_753+3426d others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(23): Show |
3 | a0001c0008t0001g0210 a0001c0009t0009g0036 a0002c0004t0007g0033 |
3 | HG02280.hp1 HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.753+3397_753+3426d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(28): Show |
2 | a0001c0002t0002g0099 a0001c0007t0005g0030 |
2 | HG03041.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.753+3392_753+3426d others(37): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | AAGAAGAG others(33): Show |
3 | a0001c0001t0001g0034 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.753+3387_753+3426d others(42): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | A | G | 2 | a0001c0003t0003g0040 a0001c0003t0003g0183 |
2 | HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.753+3427T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | AAGAAG | A | 29 | a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0130 others(26): Show |
29 | HG00280.hp2 HG00408.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.753+3422_753+3426d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | AAGAAGAG others(3): Show |
A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(28): Show |
31 | HG00738.hp2 HG01069.hp2 HG01106.hp2 others(28): Show |
intron_variant | MODIFIER | c.753+3417_753+3426d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | AAGAAGAG others(8): Show |
A | 41 | a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0100 others(38): Show |
41 | HG00597.hp1 HG00733.hp2 HG00735.hp1 others(38): Show |
intron_variant | MODIFIER | c.753+3412_753+3426d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829344 | AAGAAGAG others(13): Show |
A | 4 | a0001c0001t0001g0008 a0001c0001t0001g0179 a0001c0001t0001g0224 others(1): Show |
4 | HG01168.hp2 HG01934.hp2 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.753+3407_753+3426d others(22): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829344 | |||||||
chr12:119829402 | A | C | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.753+3369T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829402 | |||||||
chr12:119829487 | A | G | 152 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(149): Show |
152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.753+3284T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829487 | |||||||
chr12:119829507 | C | T | 1 | a0001c0001t0004g0169 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.753+3264G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829507 | |||||||
chr12:119829564 | C | T | 24 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0138 others(21): Show |
24 | HG01928.hp1 HG01934.hp1 HG02015.hp2 others(21): Show |
intron_variant | MODIFIER | c.753+3207G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829564 | |||||||
chr12:119829669 | G | A | 8 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0010g0217 others(5): Show |
8 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.753+3102C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829669 | |||||||
chr12:119829887 | A | C | 152 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(149): Show |
152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.753+2884T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119829887 | |||||||
chr12:119830317 | C | A | 1 | a0001c0001t0008g0134 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.753+2454G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830317 | |||||||
chr12:119830412 | G | C | 1 | a0001c0003t0005g0186 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.753+2359C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830412 | |||||||
chr12:119830593 | T | G | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.753+2178A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830593 | |||||||
chr12:119830606 | AC | A | 81 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(78): Show |
81 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.753+2164delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830606 | |||||||
chr12:119830688 | G | A | 9 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(6): Show |
9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.753+2083C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830688 | |||||||
chr12:119830874 | A | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.753+1897T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830874 | |||||||
chr12:119830915 | G | A | 9 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(6): Show |
9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.753+1856C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830915 | |||||||
chr12:119830977 | T | C | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+1794A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119830977 | |||||||
chr12:119831010 | C | A | 1 | a0001c0002t0002g0222 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.753+1761G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831010 | |||||||
chr12:119831154 | G | A | 54 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(51): Show |
54 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.753+1617C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831154 | |||||||
chr12:119831155 | G | A | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.753+1616C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831155 | |||||||
chr12:119831361 | C | G | 1 | a0001c0003t0003g0040 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.753+1410G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831361 | |||||||
chr12:119831864 | C | T | 2 | a0001c0003t0017g0060 a0002c0016t0001g0061 |
2 | HG02451.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.753+907G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831864 | |||||||
chr12:119831897 | T | A | 1 | a0001c0001t0004g0161 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.753+874A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119831897 | |||||||
chr12:119832125 | C | T | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.753+646G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832125 | |||||||
chr12:119832319 | G | T | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.753+452C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832319 | |||||||
chr12:119832356 | T | C | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.753+415A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832356 | |||||||
chr12:119832724 | T | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(148): Show |
151 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(148): Show |
intron_variant | MODIFIER | c.753+47A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | 119832724 | |||||||
chr12:119833070 | G | A | 1 | a0001c0001t0001g0202 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.660-206C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833070 | |||||||
chr12:119833180 | T | C | 1 | a0003c0022t0002g0082 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.660-316A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833180 | |||||||
chr12:119833296 | T | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(146): Show |
149 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(146): Show |
intron_variant | MODIFIER | c.660-432A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833296 | |||||||
chr12:119833519 | G | T | 1 | a0001c0001t0004g0156 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+567C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833519 | |||||||
chr12:119833530 | C | G | 1 | a0001c0001t0004g0156 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+556G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833530 | |||||||
chr12:119833531 | G | C | 1 | a0001c0001t0004g0156 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.659+555C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833531 | |||||||
chr12:119833533 | T | C | 25 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(22): Show |
25 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(22): Show |
intron_variant | MODIFIER | c.659+553A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833533 | |||||||
chr12:119833560 | G | C | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.659+526C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833560 | |||||||
chr12:119833592 | C | G | 194 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(191): Show |
194 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(191): Show |
intron_variant | MODIFIER | c.659+494G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833592 | |||||||
chr12:119833663 | C | CA | 20 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0002g0138 others(17): Show |
20 | HG00597.hp1 HG02027.hp1 HG02083.hp2 others(17): Show |
intron_variant | MODIFIER | c.659+422dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | |||||||
chr12:119833663 | C | CAAA | 11 | a0001c0001t0004g0148 a0002c0004t0003g0044 a0002c0004t0007g0050 others(8): Show |
11 | HG01928.hp1 HG02258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.659+420_659+422dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | |||||||
chr12:119833663 | CA | C | 88 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(85): Show |
88 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(85): Show |
intron_variant | MODIFIER | c.659+422delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | |||||||
chr12:119833663 | CAA | C | 48 | a0001c0001t0001g0010 a0001c0001t0001g0121 a0001c0001t0002g0095 others(45): Show |
48 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.659+421_659+422del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | |||||||
chr12:119833663 | CAAA | C | 5 | a0001c0002t0002g0155 a0001c0003t0017g0060 a0003c0033t0006g0176 others(2): Show |
5 | HG00733.hp1 HG01515.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.659+420_659+422del others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833663 | |||||||
chr12:119833678 | A | G | 1 | a0001c0014t0001g0153 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.659+408T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833678 | |||||||
chr12:119833788 | A | G | 1 | a0001c0001t0006g0119 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.659+298T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833788 | |||||||
chr12:119833807 | T | C | 152 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(149): Show |
152 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(149): Show |
intron_variant | MODIFIER | c.659+279A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833807 | |||||||
chr12:119833890 | GC | G | 2 | a0005c0018t0006g0005 a0005c0018t0006g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.659+195delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833890 | |||||||
chr12:119833986 | T | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.659+100A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 6/47 | chr12 | 119833986 | |||||||
chr12:119834926 | C | G | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.517-698G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119834926 | |||||||
chr12:119835003 | G | C | 17 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(14): Show |
17 | HG02258.hp1 HG02280.hp2 HG02622.hp1 others(14): Show |
intron_variant | MODIFIER | c.517-775C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835003 | |||||||
chr12:119835027 | C | T | 29 | a0001c0001t0001g0034 a0001c0001t0005g0020 a0001c0003t0003g0037 others(26): Show |
29 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.517-799G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835027 | |||||||
chr12:119835068 | A | G | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.517-840T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835068 | |||||||
chr12:119835321 | T | C | 3 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 |
3 | HG03130.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.517-1093A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835321 | |||||||
chr12:119835440 | G | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.517-1212C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119835440 | |||||||
chr12:119836202 | A | G | 29 | a0001c0001t0001g0034 a0001c0001t0005g0020 a0001c0003t0003g0037 others(26): Show |
29 | HG00733.hp1 HG01168.hp1 HG01169.hp2 others(26): Show |
intron_variant | MODIFIER | c.517-1974T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836202 | |||||||
chr12:119836211 | C | T | 1 | a0001c0023t0004g0059 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.517-1983G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836211 | |||||||
chr12:119836244 | A | G | 62 | a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0001g0172 others(59): Show |
62 | HG00597.hp1 HG00733.hp1 HG01109.hp1 others(59): Show |
intron_variant | MODIFIER | c.517-2016T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836244 | |||||||
chr12:119836273 | G | C | 3 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0008g0134 |
3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.517-2045C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836273 | |||||||
chr12:119836274 | A | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.517-2046T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836274 | |||||||
chr12:119836277 | C | T | 1 | a0001c0001t0003g0111 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.517-2049G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836277 | |||||||
chr12:119836284 | T | TA | 38 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(35): Show |
38 | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(35): Show |
intron_variant | MODIFIER | c.517-2057dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAA | 41 | a0001c0001t0001g0034 a0001c0001t0001g0230 a0001c0001t0002g0095 others(38): Show |
41 | HG00408.hp1 HG00597.hp2 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.517-2058_517-2057d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAA | 16 | a0001c0002t0001g0070 a0001c0002t0002g0076 a0001c0002t0002g0078 others(13): Show |
16 | HG02056.hp1 HG02071.hp1 HG02630.hp1 others(13): Show |
intron_variant | MODIFIER | c.517-2059_517-2057d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAA | 8 | a0001c0002t0001g0058 a0001c0002t0013g0048 a0001c0002t0013g0071 others(5): Show |
8 | HG00738.hp1 HG00741.hp1 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.517-2060_517-2057d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAA | 6 | a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0053 others(3): Show |
6 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.517-2062_517-2057d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA | 5 | a0001c0013t0005g0029 a0001c0015t0006g0004 a0002c0004t0003g0044 others(2): Show |
5 | HG02622.hp1 HG02809.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.517-2063_517-2057d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA others(3): Show |
1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.517-2066_517-2057d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA others(11): Show |
3 | a0001c0005t0010g0042 a0001c0005t0010g0216 a0001c0005t0022g0041 |
3 | HG02895.hp1 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.517-2074_517-2057d others(20): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA others(12): Show |
1 | a0001c0007t0005g0220 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.517-2075_517-2057d others(21): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA others(18): Show |
1 | a0001c0005t0010g0217 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.517-2081_517-2057d others(27): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | T | TAAAAAAA others(23): Show |
1 | a0001c0007t0005g0218 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.517-2086_517-2057d others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | TA | T | 5 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.517-2057delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836284 | TAAAAAAA others(15): Show |
T | 23 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(20): Show |
23 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(20): Show |
intron_variant | MODIFIER | c.517-2078_517-2057d others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836284 | |||||||
chr12:119836519 | T | C | 55 | a0001c0001t0001g0010 a0001c0001t0002g0095 a0001c0001t0004g0104 others(52): Show |
55 | HG00408.hp1 HG00597.hp2 HG00738.hp1 others(52): Show |
intron_variant | MODIFIER | c.517-2291A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836519 | |||||||
chr12:119836539 | C | T | 1 | a0001c0006t0001g0146 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.517-2311G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836539 | |||||||
chr12:119836764 | C | G | 3 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0008g0134 |
3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.517-2536G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119836764 | |||||||
chr12:119837003 | T | C | 1 | a0001c0001t0001g0199 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.517-2775A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837003 | |||||||
chr12:119837276 | T | C | 25 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(22): Show |
25 | HG00597.hp1 HG01928.hp1 HG01934.hp1 others(22): Show |
intron_variant | MODIFIER | c.517-3048A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837276 | |||||||
chr12:119837424 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.517-3196A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119837424 | |||||||
chr12:119838197 | G | A | 1 | a0001c0001t0002g0188 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.517-3969C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838197 | |||||||
chr12:119838216 | G | T | 167 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(164): Show |
167 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(164): Show |
intron_variant | MODIFIER | c.517-3988C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838216 | |||||||
chr12:119838262 | A | G | 188 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(185): Show |
188 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.517-4034T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838262 | |||||||
chr12:119838394 | G | T | 174 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(171): Show |
174 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(171): Show |
intron_variant | MODIFIER | c.517-4166C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838394 | |||||||
chr12:119838536 | C | T | 3 | a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 |
3 | HG02109.hp2 HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.517-4308G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838536 | |||||||
chr12:119838669 | TTCATATA others(22): Show |
T | 1 | a0001c0001t0002g0140 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.517-4470_517-4442d others(31): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838669 | |||||||
chr12:119838993 | C | T | 1 | a0001c0001t0002g0143 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.517-4765G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119838993 | |||||||
chr12:119839369 | T | C | 1 | a0002c0004t0007g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.517-5141A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839369 | |||||||
chr12:119839435 | C | A | 1 | a0001c0003t0003g0193 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.517-5207G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839435 | |||||||
chr12:119839618 | C | G | 3 | a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0228 |
3 | HG02970.hp2 HG06807.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.517-5390G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839618 | |||||||
chr12:119839745 | G | A | 9 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(6): Show |
9 | HG02257.hp2 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.517-5517C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839745 | |||||||
chr12:119839794 | A | G | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.517-5566T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839794 | |||||||
chr12:119839918 | G | T | 1 | a0001c0001t0004g0164 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.517-5690C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119839918 | |||||||
chr12:119840437 | T | C | 83 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(80): Show |
83 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(80): Show |
intron_variant | MODIFIER | c.517-6209A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840437 | |||||||
chr12:119840528 | C | T | 102 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(99): Show |
102 | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.517-6300G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840528 | |||||||
chr12:119840571 | T | C | 4 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 others(1): Show |
4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.517-6343A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119840571 | |||||||
chr12:119841347 | A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.517-7119T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841347 | |||||||
chr12:119841445 | A | T | 2 | a0001c0007t0005g0030 a0001c0007t0005g0062 |
2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.517-7217T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841445 | |||||||
chr12:119841465 | G | A | 2 | a0001c0005t0010g0042 a0001c0005t0022g0041 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.517-7237C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119841465 | |||||||
chr12:119842089 | A | C | 1 | a0001c0002t0002g0072 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.517-7861T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842089 | |||||||
chr12:119842104 | A | G | 1 | a0001c0001t0001g0223 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.517-7876T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842104 | |||||||
chr12:119842272 | C | A | 1 | a0001c0006t0001g0131 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.516+7902G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842272 | |||||||
chr12:119842388 | C | CA | 71 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(68): Show |
71 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(68): Show |
intron_variant | MODIFIER | c.516+7785dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | |||||||
chr12:119842388 | C | CAA | 33 | a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0001g0109 others(30): Show |
33 | HG00597.hp1 HG00735.hp1 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.516+7784_516+7785d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | |||||||
chr12:119842388 | CA | C | 53 | a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0002g0095 others(50): Show |
53 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.516+7785delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | |||||||
chr12:119842388 | CAA | C | 5 | a0001c0002t0002g0067 a0001c0002t0018g0068 a0001c0003t0017g0060 others(2): Show |
5 | HG02165.hp1 HG02451.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.516+7784_516+7785d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | |||||||
chr12:119842388 | CAAAAAAA others(1): Show |
C | 7 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(4): Show |
7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+7778_516+7785d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842388 | |||||||
chr12:119842738 | A | G | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+7436T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842738 | |||||||
chr12:119842848 | T | C | 58 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0148 others(55): Show |
58 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.516+7326A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119842848 | |||||||
chr12:119843186 | T | C | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+6988A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843186 | |||||||
chr12:119843472 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+6702A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843472 | |||||||
chr12:119843876 | G | A | 2 | a0001c0003t0017g0060 a0002c0016t0001g0061 |
2 | HG02451.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.516+6298C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843876 | |||||||
chr12:119843936 | A | C | 9 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(6): Show |
9 | HG02717.hp1 HG02717.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.516+6238T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119843936 | |||||||
chr12:119844099 | G | A | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.516+6075C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844099 | |||||||
chr12:119844178 | T | A | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+5996A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844178 | |||||||
chr12:119844180 | C | T | 2 | a0001c0005t0010g0042 a0001c0005t0022g0041 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.516+5994G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844180 | |||||||
chr12:119844269 | G | A | 7 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(4): Show |
7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5905C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844269 | |||||||
chr12:119844274 | G | A | 7 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(4): Show |
7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5900C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844274 | |||||||
chr12:119844311 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+5863G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844311 | |||||||
chr12:119844543 | G | A | 18 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(15): Show |
18 | HG00597.hp1 HG01934.hp1 HG02015.hp2 others(15): Show |
intron_variant | MODIFIER | c.516+5631C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844543 | |||||||
chr12:119844727 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+5447T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844727 | |||||||
chr12:119844896 | G | A | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.516+5278C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844896 | |||||||
chr12:119844917 | G | A | 1 | a0001c0001t0004g0194 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.516+5257C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119844917 | |||||||
chr12:119845043 | C | T | 2 | a0001c0007t0005g0030 a0001c0007t0005g0062 |
2 | HG02970.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.516+5131G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845043 | |||||||
chr12:119845106 | C | T | 2 | a0001c0005t0008g0021 a0009c0032t0001g0028 |
2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.516+5068G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845106 | |||||||
chr12:119845119 | C | CA | 7 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(4): Show |
7 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+5054dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845119 | |||||||
chr12:119845427 | C | T | 11 | a0001c0001t0001g0008 a0001c0001t0005g0020 a0001c0005t0008g0021 others(8): Show |
11 | HG01934.hp2 HG02622.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.516+4747G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845427 | |||||||
chr12:119845498 | C | T | 3 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0008g0134 |
3 | HG00738.hp2 HG01069.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.516+4676G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845498 | |||||||
chr12:119845530 | G | A | 2 | a0001c0007t0005g0228 a0001c0028t0003g0229 |
2 | HG06807.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.516+4644C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845530 | |||||||
chr12:119845652 | C | CA | 12 | a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0202 others(9): Show |
12 | HG01243.hp2 HG02523.hp1 HG03130.hp1 others(9): Show |
intron_variant | MODIFIER | c.516+4521dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845652 | |||||||
chr12:119845652 | CA | C | 25 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(22): Show |
25 | HG00597.hp1 HG01934.hp1 HG02015.hp2 others(22): Show |
intron_variant | MODIFIER | c.516+4521delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845652 | |||||||
chr12:119845728 | G | A | 1 | a0001c0002t0002g0102 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.516+4446C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845728 | |||||||
chr12:119845807 | G | A | 84 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(81): Show |
84 | HG00280.hp2 HG00733.hp2 HG00735.hp1 others(81): Show |
intron_variant | MODIFIER | c.516+4367C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845807 | |||||||
chr12:119845943 | A | AAC | 87 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(84): Show |
87 | HG00280.hp2 HG00597.hp1 HG00733.hp1 others(84): Show |
intron_variant | MODIFIER | c.516+4229_516+4230d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | A | AACAC | 36 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 others(33): Show |
36 | HG00733.hp2 HG00741.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.516+4227_516+4230d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | A | AACACAC | 8 | a0001c0001t0001g0010 a0001c0002t0013g0048 a0001c0006t0012g0141 others(5): Show |
8 | HG00738.hp1 HG02257.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.516+4225_516+4230d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | A | AACACACA others(1): Show |
10 | a0001c0002t0002g0096 a0001c0002t0013g0071 a0001c0028t0003g0229 others(7): Show |
10 | HG00741.hp1 HG02056.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.516+4223_516+4230d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | A | AACACACA others(3): Show |
4 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0002c0004t0011g0056 others(1): Show |
4 | HG02809.hp1 HG02922.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.516+4221_516+4230d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | AAC | A | 7 | a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0002t0002g0089 others(4): Show |
7 | HG02523.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+4229_516+4230d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | AACAC | A | 3 | a0001c0003t0003g0192 a0001c0003t0003g0198 a0001c0005t0008g0022 |
3 | HG02717.hp2 HG03209.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.516+4227_516+4230d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845943 | AACACACA others(3): Show |
A | 1 | a0001c0006t0001g0131 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.516+4221_516+4230d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845943 | |||||||
chr12:119845991 | G | A | 4 | a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0137 others(1): Show |
4 | NA18955.hp2 NA18981.hp2 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.516+4183C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119845991 | |||||||
chr12:119846037 | C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.516+4137G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846037 | |||||||
chr12:119846636 | A | G | 95 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(92): Show |
95 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(92): Show |
intron_variant | MODIFIER | c.516+3538T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846636 | |||||||
chr12:119846758 | C | A | 204 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(201): Show |
204 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(201): Show |
intron_variant | MODIFIER | c.516+3416G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846758 | |||||||
chr12:119846987 | CT | C | 82 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(79): Show |
82 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(79): Show |
intron_variant | MODIFIER | c.516+3186delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119846987 | |||||||
chr12:119847088 | C | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.516+3086G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847088 | |||||||
chr12:119847115 | G | A | 3 | a0001c0035t0003g0007 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.516+3059C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847115 | |||||||
chr12:119847149 | T | G | 1 | a0001c0002t0002g0066 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.516+3025A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847149 | |||||||
chr12:119847212 | C | A | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.516+2962G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847212 | |||||||
chr12:119847282 | C | G | 1 | a0001c0001t0001g0180 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.516+2892G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847282 | |||||||
chr12:119847331 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+2843G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847331 | |||||||
chr12:119847457 | G | A | 82 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(79): Show |
82 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(79): Show |
intron_variant | MODIFIER | c.516+2717C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847457 | |||||||
chr12:119847712 | G | A | 7 | a0001c0003t0003g0197 a0001c0007t0005g0228 a0001c0015t0006g0004 others(4): Show |
7 | HG02717.hp1 HG03041.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.516+2462C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847712 | |||||||
chr12:119847728 | T | C | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.516+2446A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847728 | |||||||
chr12:119847853 | T | C | 4 | a0001c0002t0014g0235 a0001c0007t0005g0228 a0001c0028t0003g0229 others(1): Show |
4 | HG02976.hp2 HG03453.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.516+2321A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847853 | |||||||
chr12:119847920 | T | A | 14 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(11): Show |
14 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.516+2254A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119847920 | |||||||
chr12:119848388 | C | T | 55 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0156 others(52): Show |
55 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.516+1786G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848388 | |||||||
chr12:119848456 | A | T | 9 | a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0005t0010g0042 others(6): Show |
9 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.516+1718T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848456 | |||||||
chr12:119848607 | G | A | 7 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.516+1567C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848607 | |||||||
chr12:119848693 | T | C | 13 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(10): Show |
13 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.516+1481A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848693 | |||||||
chr12:119848758 | G | A | 1 | a0001c0001t0001g0172 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.516+1416C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848758 | |||||||
chr12:119848813 | C | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+1361G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848813 | |||||||
chr12:119848851 | C | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.516+1323G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119848851 | |||||||
chr12:119849007 | C | G | 2 | a0001c0002t0001g0058 a0001c0005t0008g0085 |
2 | HG02896.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.516+1167G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849007 | |||||||
chr12:119849011 | A | G | 25 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(22): Show |
25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.516+1163T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849011 | |||||||
chr12:119849140 | G | A | 18 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(15): Show |
18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.516+1034C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849140 | |||||||
chr12:119849351 | T | A | 27 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.516+823A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849351 | |||||||
chr12:119849363 | A | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+811T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849363 | |||||||
chr12:119849488 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.516+686C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849488 | |||||||
chr12:119849675 | GTTTCTTT others(3): Show |
G | 54 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0097 others(51): Show |
54 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(51): Show |
intron_variant | MODIFIER | c.516+489_516+498del others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119849675 | |||||||
chr12:119850069 | T | C | 1 | a0001c0001t0001g0133 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.516+105A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | 119850069 | |||||||
chr12:119850375 | T | TA | 85 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0049 others(82): Show |
85 | HG00280.hp2 HG00408.hp2 HG00733.hp1 others(82): Show |
intron_variant | MODIFIER | c.415-101dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | |||||||
chr12:119850375 | T | TAA | 109 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(106): Show |
109 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(106): Show |
intron_variant | MODIFIER | c.415-102_415-101dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | |||||||
chr12:119850375 | T | TAAA | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.415-103_415-101dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850375 | |||||||
chr12:119850389 | G | A | 26 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(23): Show |
26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-114C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850389 | |||||||
chr12:119850445 | GAAGGA | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.415-175_415-171del others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850445 | |||||||
chr12:119850452 | AGGGAAGG others(4): Show |
A | 1 | a0001c0001t0001g0016 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.415-188_415-178del others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850452 | |||||||
chr12:119850502 | A | G | 1 | a0001c0002t0013g0048 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.415-227T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850502 | |||||||
chr12:119850589 | T | C | 1 | a0001c0001t0004g0161 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.415-314A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119850589 | |||||||
chr12:119851322 | T | A | 1 | a0001c0008t0001g0212 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.415-1047A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851322 | |||||||
chr12:119851365 | G | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.415-1090C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851365 | |||||||
chr12:119851775 | G | A | 1 | a0001c0001t0001g0152 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.415-1500C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851775 | |||||||
chr12:119851809 | G | A | 67 | a0001c0001t0001g0034 a0001c0001t0002g0095 a0001c0001t0004g0104 others(64): Show |
67 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.415-1534C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119851809 | |||||||
chr12:119852230 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.415-1955G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852230 | |||||||
chr12:119852539 | C | G | 2 | a0001c0001t0001g0175 a0003c0033t0006g0176 |
2 | HG00733.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.415-2264G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852539 | |||||||
chr12:119852603 | G | A | 2 | a0001c0007t0005g0228 a0001c0028t0003g0229 |
2 | HG06807.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.415-2328C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852603 | |||||||
chr12:119852700 | C | CA | 26 | a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0172 others(23): Show |
26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-2426dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852700 | |||||||
chr12:119852866 | G | A | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.415-2591C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852866 | |||||||
chr12:119852914 | T | C | 83 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(80): Show |
83 | HG00597.hp1 HG01109.hp1 HG01168.hp1 others(80): Show |
intron_variant | MODIFIER | c.415-2639A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119852914 | |||||||
chr12:119853204 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.415-2929C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853204 | |||||||
chr12:119853205 | TAATC | T | 26 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(23): Show |
26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.415-2934_415-2931d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853205 | |||||||
chr12:119853324 | C | CA | 10 | a0001c0001t0001g0001 a0001c0001t0002g0095 a0001c0001t0002g0105 others(7): Show |
10 | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.415-3050dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | |||||||
chr12:119853324 | CA | C | 27 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.415-3050delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | |||||||
chr12:119853324 | CAA | C | 25 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(22): Show |
25 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(22): Show |
intron_variant | MODIFIER | c.415-3051_415-3050d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853324 | |||||||
chr12:119853438 | G | GT | 4 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 others(1): Show |
4 | NA18966.hp2 NA18969.hp2 NA18997.hp2 others(1): Show |
intron_variant | MODIFIER | c.415-3164dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | |||||||
chr12:119853438 | G | GTTTTGTT others(4): Show |
18 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(15): Show |
18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.415-3164_415-3163i others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | |||||||
chr12:119853438 | G | T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.415-3163C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853438 | |||||||
chr12:119853534 | C | A | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.415-3259G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853534 | |||||||
chr12:119853659 | C | A | 67 | a0001c0001t0001g0034 a0001c0001t0002g0095 a0001c0001t0004g0104 others(64): Show |
67 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.415-3384G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853659 | |||||||
chr12:119853702 | C | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.415-3427G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853702 | |||||||
chr12:119853878 | T | A | 2 | a0001c0007t0005g0030 a0001c0013t0005g0029 |
2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.415-3603A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119853878 | |||||||
chr12:119854031 | A | T | 25 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(22): Show |
25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.414+3492T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854031 | |||||||
chr12:119854057 | C | T | 1 | a0001c0034t0001g0063 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.414+3466G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854057 | |||||||
chr12:119854362 | C | G | 64 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(61): Show |
64 | HG00597.hp1 HG01168.hp1 HG01169.hp2 others(61): Show |
intron_variant | MODIFIER | c.414+3161G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854362 | |||||||
chr12:119854404 | A | G | 26 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(23): Show |
26 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.414+3119T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854404 | |||||||
chr12:119854623 | T | C | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.414+2900A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854623 | |||||||
chr12:119854673 | G | A | 1 | a0001c0001t0001g0145 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.414+2850C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854673 | |||||||
chr12:119854793 | A | G | 1 | a0002c0004t0007g0055 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.414+2730T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854793 | |||||||
chr12:119854852 | G | C | 1 | a0001c0001t0001g0152 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.414+2671C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854852 | |||||||
chr12:119854882 | C | A | 7 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.414+2641G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854882 | |||||||
chr12:119854885 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+2638C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854885 | |||||||
chr12:119854950 | C | CTAAA | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+2569_414+2572d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119854950 | |||||||
chr12:119855236 | C | T | 1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.414+2287G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855236 | |||||||
chr12:119855388 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+2135T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855388 | |||||||
chr12:119855571 | TCCTTC | T | 51 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(48): Show |
51 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(48): Show |
intron_variant | MODIFIER | c.414+1947_414+1951d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855571 | |||||||
chr12:119855839 | G | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1684C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855839 | |||||||
chr12:119855886 | C | T | 57 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(54): Show |
57 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(54): Show |
intron_variant | MODIFIER | c.414+1637G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855886 | |||||||
chr12:119855893 | C | A | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.414+1630G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855893 | |||||||
chr12:119855942 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+1581T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855942 | |||||||
chr12:119855945 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1578T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855945 | |||||||
chr12:119855967 | T | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+1556A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119855967 | |||||||
chr12:119856044 | C | T | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0223 |
3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.414+1479G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856044 | |||||||
chr12:119856161 | T | C | 1 | a0001c0028t0003g0229 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.414+1362A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856161 | |||||||
chr12:119856428 | T | C | 1 | a0001c0001t0001g0206 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.414+1095A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856428 | |||||||
chr12:119856638 | G | A | 1 | a0001c0014t0001g0084 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.414+885C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856638 | |||||||
chr12:119856740 | T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.414+783A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856740 | |||||||
chr12:119856742 | T | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.414+781A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856742 | |||||||
chr12:119856742 | TC | T | 15 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(12): Show |
15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.414+780delG | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856742 | |||||||
chr12:119856750 | C | T | 3 | a0001c0002t0014g0235 a0001c0002t0014g0236 a0001c0006t0027g0234 |
3 | HG02976.hp2 HG03579.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.414+773G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856750 | |||||||
chr12:119856903 | T | G | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.414+620A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119856903 | |||||||
chr12:119857257 | C | T | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.414+266G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857257 | |||||||
chr12:119857294 | A | C | 1 | a0001c0001t0001g0047 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.414+229T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857294 | |||||||
chr12:119857421 | G | A | 25 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(22): Show |
25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.414+102C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857421 | |||||||
chr12:119857486 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.414+37G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | 119857486 | |||||||
chr12:119857836 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-138A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857836 | |||||||
chr12:119857862 | G | A | 1 | a0001c0003t0003g0031 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.239-164C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857862 | |||||||
chr12:119857911 | A | G | 1 | a0001c0001t0004g0163 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.239-213T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119857911 | |||||||
chr12:119858256 | C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.239-558G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858256 | |||||||
chr12:119858333 | A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-635T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858333 | |||||||
chr12:119858378 | G | A | 1 | a0001c0002t0002g0067 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.239-680C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858378 | |||||||
chr12:119858380 | T | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-682A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858380 | |||||||
chr12:119858507 | ACT | A | 7 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(4): Show |
7 | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-811_239-810del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858507 | |||||||
chr12:119858543 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-845T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858543 | |||||||
chr12:119858770 | C | G | 1 | a0001c0001t0001g0001 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.239-1072G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858770 | |||||||
chr12:119858800 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-1102A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858800 | |||||||
chr12:119858821 | C | A | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.239-1123G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858821 | |||||||
chr12:119858821 | C | CA | 22 | a0001c0001t0001g0100 a0001c0001t0001g0174 a0001c0001t0003g0106 others(19): Show |
22 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(19): Show |
intron_variant | MODIFIER | c.239-1124dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858821 | |||||||
chr12:119858838 | G | A | 2 | a0001c0002t0002g0089 a0001c0002t0002g0155 |
2 | HG01515.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.239-1140C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119858838 | |||||||
chr12:119859028 | T | C | 3 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 |
3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239-1330A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859028 | |||||||
chr12:119859062 | AG | A | 40 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0156 others(37): Show |
40 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.239-1365delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859062 | |||||||
chr12:119859130 | A | T | 1 | a0001c0001t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.239-1432T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859130 | |||||||
chr12:119859309 | C | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-1611G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859309 | |||||||
chr12:119859554 | C | T | 1 | a0001c0003t0003g0183 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.239-1856G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859554 | |||||||
chr12:119859561 | A | G | 1 | a0001c0025t0003g0064 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.239-1863T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859561 | |||||||
chr12:119859616 | A | C | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.239-1918T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859616 | |||||||
chr12:119859659 | A | G | 6 | a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0213 others(3): Show |
6 | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-1961T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859659 | |||||||
chr12:119859707 | C | T | 7 | a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0001g0200 others(4): Show |
7 | HG03017.hp2 HG03710.hp1 HG03834.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-2009G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859707 | |||||||
chr12:119859762 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2064T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859762 | |||||||
chr12:119859805 | C | T | 1 | a0001c0002t0001g0070 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.239-2107G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859805 | |||||||
chr12:119859809 | G | A | 2 | a0001c0003t0005g0189 a0001c0003t0005g0190 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.239-2111C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859809 | |||||||
chr12:119859873 | C | G | 1 | a0002c0004t0007g0033 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.239-2175G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859873 | |||||||
chr12:119859957 | T | C | 36 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(33): Show |
36 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.239-2259A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859957 | |||||||
chr12:119859963 | C | T | 4 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(1): Show |
4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-2265G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119859963 | |||||||
chr12:119860131 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2433T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860131 | |||||||
chr12:119860206 | G | A | 3 | a0001c0002t0018g0068 a0001c0002t0020g0069 a0001c0027t0002g0079 |
3 | NA18939.hp2 NA18960.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.239-2508C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860206 | |||||||
chr12:119860277 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2579A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860277 | |||||||
chr12:119860409 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-2711A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860409 | |||||||
chr12:119860819 | A | G | 1 | a0001c0001t0001g0109 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.239-3121T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860819 | |||||||
chr12:119860822 | T | TA | 32 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(29): Show |
32 | HG01243.hp2 HG01934.hp1 HG01934.hp2 others(29): Show |
intron_variant | MODIFIER | c.239-3125dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860822 | |||||||
chr12:119860868 | C | T | 1 | a0001c0001t0001g0226 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.239-3170G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860868 | |||||||
chr12:119860899 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.239-3201A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119860899 | |||||||
chr12:119861062 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3364T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861062 | |||||||
chr12:119861450 | C | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3752G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861450 | |||||||
chr12:119861459 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-3761A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861459 | |||||||
chr12:119861536 | G | A | 56 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0156 others(53): Show |
56 | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.239-3838C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861536 | |||||||
chr12:119861552 | A | T | 1 | a0001c0015t0006g0023 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.239-3854T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861552 | |||||||
chr12:119861693 | C | T | 9 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(6): Show |
9 | HG02257.hp2 HG02559.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.239-3995G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861693 | |||||||
chr12:119861992 | GGTTT | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4298_239-4295d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119861992 | |||||||
chr12:119862114 | A | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4416T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862114 | |||||||
chr12:119862126 | G | A | 1 | a0001c0001t0004g0150 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.239-4428C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862126 | |||||||
chr12:119862180 | G | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-4482C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862180 | |||||||
chr12:119862339 | G | GCA | 2 | a0001c0001t0001g0145 a0001c0001t0002g0140 |
2 | NA18959.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.239-4643_239-4642d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862339 | |||||||
chr12:119862367 | C | T | 6 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(3): Show |
6 | HG02257.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-4669G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862367 | |||||||
chr12:119862450 | A | T | 1 | a0001c0001t0002g0143 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.239-4752T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862450 | |||||||
chr12:119862521 | A | C | 15 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(12): Show |
15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.239-4823T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862521 | |||||||
chr12:119862721 | A | C | 1 | a0001c0006t0012g0115 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.239-5023T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862721 | |||||||
chr12:119862736 | G | C | 25 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(22): Show |
25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.239-5038C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862736 | |||||||
chr12:119862803 | C | T | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.239-5105G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862803 | |||||||
chr12:119862808 | T | TA | 20 | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0137 others(17): Show |
20 | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.239-5111dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAA | 6 | a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0002t0013g0196 others(3): Show |
6 | HG00280.hp1 HG01515.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-5112_239-5111d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAA | 5 | a0001c0001t0001g0226 a0001c0003t0017g0060 a0001c0005t0008g0215 others(2): Show |
5 | HG02056.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-5115_239-5111d others(7): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAA | 9 | a0001c0005t0010g0217 a0001c0005t0010g0221 a0001c0007t0005g0062 others(6): Show |
9 | HG00408.hp1 HG02258.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.239-5116_239-5111d others(8): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA | 5 | a0001c0007t0005g0218 a0001c0009t0009g0036 a0002c0004t0007g0055 others(2): Show |
5 | HG02257.hp1 HG02809.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-5117_239-5111d others(9): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(1): Show |
7 | a0001c0003t0003g0037 a0001c0005t0010g0042 a0001c0005t0022g0041 others(4): Show |
7 | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-5118_239-5111d others(10): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(2): Show |
13 | a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 others(10): Show |
13 | HG00738.hp1 HG02165.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.239-5119_239-5111d others(11): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(3): Show |
26 | a0001c0001t0002g0095 a0001c0001t0004g0104 a0001c0001t0004g0148 others(23): Show |
26 | HG00597.hp2 HG00741.hp1 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.239-5120_239-5111d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(4): Show |
7 | a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0091 others(4): Show |
7 | HG02109.hp1 HG03209.hp1 NA18966.hp1 others(4): Show |
intron_variant | MODIFIER | c.239-5121_239-5111d others(13): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(5): Show |
4 | a0001c0001t0001g0034 a0001c0001t0004g0156 a0001c0002t0001g0093 others(1): Show |
4 | NA19006.hp2 NA19043.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-5122_239-5111d others(14): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(6): Show |
2 | a0001c0003t0003g0086 a0001c0005t0008g0085 |
2 | HG00735.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.239-5123_239-5111d others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(7): Show |
3 | a0001c0002t0001g0058 a0001c0002t0001g0087 a0001c0002t0002g0102 |
3 | HG03139.hp2 NA18959.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.239-5124_239-5111d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(8): Show |
2 | a0001c0002t0002g0088 a0001c0002t0002g0089 |
2 | HG02080.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.239-5125_239-5111d others(17): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TAAAAAAA others(9): Show |
2 | a0001c0002t0002g0090 a0001c0002t0002g0155 |
2 | HG01515.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.239-5126_239-5111d others(18): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | T | TTAAAAAA others(6): Show |
1 | a0001c0002t0002g0092 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.239-5111_239-5110i others(15): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | TA | T | 23 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 others(20): Show |
23 | HG01243.hp2 HG01934.hp2 HG02071.hp2 others(20): Show |
intron_variant | MODIFIER | c.239-5111delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | TAAA | T | 6 | a0001c0001t0001g0172 a0001c0001t0004g0160 a0001c0001t0004g0173 others(3): Show |
6 | HG02027.hp1 HG02965.hp1 NA18966.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-5113_239-5111d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | TAAAA | T | 16 | a0001c0001t0001g0100 a0001c0001t0001g0174 a0001c0001t0004g0161 others(13): Show |
16 | HG00597.hp1 HG02015.hp2 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.239-5114_239-5111d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | TAAAAAAA others(3): Show |
T | 1 | a0001c0023t0004g0059 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.239-5120_239-5111d others(12): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862808 | TAAAAAAA others(7): Show |
T | 1 | a0001c0015t0006g0004 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.239-5124_239-5111d others(16): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862808 | |||||||
chr12:119862832 | A | AAAAAAAA others(15): Show |
1 | a0004c0019t0003g0231 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.239-5135_239-5134i others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862832 | |||||||
chr12:119862832 | A | AAAAAAAA others(16): Show |
1 | a0004c0019t0003g0002 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.239-5135_239-5134i others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862832 | |||||||
chr12:119862838 | A | G | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5140T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862838 | |||||||
chr12:119862841 | G | A | 2 | a0001c0001t0002g0095 a0001c0002t0002g0227 |
2 | NA18997.hp1 NA18997.hp2 |
intron_variant | MODIFIER | c.239-5143C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862841 | |||||||
chr12:119862848 | C | A | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5150G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862848 | |||||||
chr12:119862849 | CA | C | 53 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(50): Show |
53 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(50): Show |
intron_variant | MODIFIER | c.239-5152delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862849 | |||||||
chr12:119862850 | A | C | 1 | a0001c0002t0002g0227 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.239-5152T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862850 | |||||||
chr12:119862924 | G | A | 57 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0049 others(54): Show |
57 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(54): Show |
intron_variant | MODIFIER | c.239-5226C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862924 | |||||||
chr12:119862926 | G | A | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.239-5228C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862926 | |||||||
chr12:119862980 | G | A | 2 | a0001c0001t0001g0175 a0003c0033t0006g0176 |
2 | HG00733.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.239-5282C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119862980 | |||||||
chr12:119863041 | A | G | 3 | a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0213 |
3 | HG01243.hp1 HG02647.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.239-5343T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863041 | |||||||
chr12:119863072 | C | T | 3 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 |
3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239-5374G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863072 | |||||||
chr12:119863196 | T | C | 1 | a0001c0001t0002g0138 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.239-5498A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863196 | |||||||
chr12:119863201 | C | CA | 19 | a0001c0001t0001g0139 a0001c0001t0002g0140 a0001c0001t0025g0107 others(16): Show |
19 | HG01109.hp2 HG02258.hp1 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.239-5504dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | |||||||
chr12:119863201 | C | CAA | 18 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 others(15): Show |
18 | HG01109.hp1 HG01243.hp2 HG01934.hp2 others(15): Show |
intron_variant | MODIFIER | c.239-5505_239-5504d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | |||||||
chr12:119863201 | C | CAAA | 11 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(8): Show |
11 | HG02257.hp2 HG02559.hp1 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.239-5506_239-5504d others(5): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | |||||||
chr12:119863201 | C | CAAAA | 18 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(15): Show |
18 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(15): Show |
intron_variant | MODIFIER | c.239-5507_239-5504d others(6): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863201 | |||||||
chr12:119863328 | T | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-5630A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863328 | |||||||
chr12:119863332 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-5634T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863332 | |||||||
chr12:119863363 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.239-5665C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863363 | |||||||
chr12:119863432 | G | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5628C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863432 | |||||||
chr12:119863466 | T | A | 1 | a0001c0001t0015g0094 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.238+5594A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863466 | |||||||
chr12:119863514 | GT | G | 23 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(20): Show |
23 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(20): Show |
intron_variant | MODIFIER | c.238+5545delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863514 | |||||||
chr12:119863675 | C | T | 1 | a0001c0001t0026g0233 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.238+5385G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863675 | |||||||
chr12:119863717 | C | T | 1 | a0008c0021t0003g0003 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.238+5343G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863717 | |||||||
chr12:119863718 | G | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5342C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863718 | |||||||
chr12:119863782 | G | A | 27 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
27 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.238+5278C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863782 | |||||||
chr12:119863829 | C | A | 1 | a0001c0001t0002g0095 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.238+5231G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863829 | |||||||
chr12:119863846 | G | GA | 7 | a0001c0001t0001g0206 a0001c0002t0002g0045 a0001c0002t0002g0046 others(4): Show |
7 | HG03098.hp1 HG03490.hp2 HG03492.hp2 others(4): Show |
intron_variant | MODIFIER | c.238+5213dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863846 | |||||||
chr12:119863850 | A | G | 1 | a0001c0010t0002g0113 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.238+5210T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863850 | |||||||
chr12:119863923 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+5137A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119863923 | |||||||
chr12:119864116 | T | G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG02970.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.238+4944A>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864116 | |||||||
chr12:119864228 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.238+4832T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864228 | |||||||
chr12:119864418 | C | T | 1 | a0001c0009t0009g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.238+4642G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864418 | |||||||
chr12:119864671 | T | C | 2 | a0001c0001t0001g0142 a0001c0001t0004g0150 |
2 | NA18983.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.238+4389A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864671 | |||||||
chr12:119864812 | A | G | 25 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(22): Show |
25 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.238+4248T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864812 | |||||||
chr12:119864869 | TG | T | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+4190delC | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119864869 | |||||||
chr12:119865008 | G | C | 202 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(199): Show |
202 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(199): Show |
intron_variant | MODIFIER | c.238+4052C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865008 | |||||||
chr12:119865122 | A | C | 49 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(46): Show |
49 | HG00597.hp1 HG01243.hp2 HG01934.hp2 others(46): Show |
intron_variant | MODIFIER | c.238+3938T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865122 | |||||||
chr12:119865228 | G | C | 1 | a0001c0001t0002g0143 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.238+3832C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865228 | |||||||
chr12:119865325 | A | C | 1 | a0001c0006t0024g0112 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.238+3735T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865325 | |||||||
chr12:119865577 | T | C | 6 | a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0201 others(3): Show |
6 | HG03017.hp2 HG03834.hp2 HG04199.hp1 others(3): Show |
intron_variant | MODIFIER | c.238+3483A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865577 | |||||||
chr12:119865591 | T | C | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3469A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865591 | |||||||
chr12:119865864 | CA | C | 188 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(185): Show |
188 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.238+3195delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865864 | |||||||
chr12:119865864 | CAA | C | 7 | a0001c0001t0003g0111 a0001c0001t0023g0214 a0001c0013t0005g0029 others(4): Show |
7 | HG02258.hp2 HG02622.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.238+3194_238+3195d others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865864 | |||||||
chr12:119865899 | C | T | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3161G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865899 | |||||||
chr12:119865973 | AT | A | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+3086delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119865973 | |||||||
chr12:119866816 | A | T | 1 | a0001c0001t0001g0180 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.238+2244T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119866816 | |||||||
chr12:119867193 | C | CT | 5 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(2): Show |
5 | HG02717.hp1 HG02717.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+1866dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867193 | |||||||
chr12:119867334 | G | A | 2 | a0001c0005t0010g0042 a0001c0005t0022g0041 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.238+1726C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867334 | |||||||
chr12:119867432 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.238+1628C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867432 | |||||||
chr12:119867452 | C | T | 1 | a0002c0004t0003g0044 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.238+1608G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867452 | |||||||
chr12:119867484 | A | G | 24 | a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(21): Show |
24 | HG00597.hp1 HG02015.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.238+1576T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867484 | |||||||
chr12:119867578 | T | C | 38 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(35): Show |
38 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.238+1482A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867578 | |||||||
chr12:119867619 | T | C | 59 | a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0049 others(56): Show |
59 | HG00280.hp2 HG00408.hp2 HG00733.hp2 others(56): Show |
intron_variant | MODIFIER | c.238+1441A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119867619 | |||||||
chr12:119868058 | A | G | 1 | a0001c0001t0002g0110 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.238+1002T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868058 | |||||||
chr12:119868148 | A | C | 11 | a0001c0001t0005g0020 a0001c0003t0003g0024 a0001c0003t0003g0026 others(8): Show |
11 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.238+912T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868148 | |||||||
chr12:119868422 | G | A | 2 | a0001c0001t0001g0206 a0001c0003t0003g0205 |
2 | HG03834.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.238+638C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868422 | |||||||
chr12:119868429 | C | T | 13 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(10): Show |
13 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.238+631G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868429 | |||||||
chr12:119868966 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.238+94G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119868966 | |||||||
chr12:119869001 | G | A | 19 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 others(16): Show |
19 | HG00733.hp1 HG01258.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.238+59C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | 119869001 | |||||||
chr12:119869638 | T | A | 1 | a0001c0011t0009g0098 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.97-437A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869638 | |||||||
chr12:119869686 | G | GAGAAATA others(325): Show |
1 | a0001c0002t0002g0099 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.97-486_97-485insTT others(330): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869686 | |||||||
chr12:119869854 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-653C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869854 | |||||||
chr12:119869885 | C | T | 1 | a0001c0007t0005g0030 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.97-684G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119869885 | |||||||
chr12:119870137 | A | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-936T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870137 | |||||||
chr12:119870275 | A | G | 15 | a0001c0001t0005g0020 a0001c0003t0003g0024 a0001c0003t0003g0026 others(12): Show |
15 | HG01243.hp2 HG02717.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.97-1074T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870275 | |||||||
chr12:119870277 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1076T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870277 | |||||||
chr12:119870321 | C | T | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0223 |
3 | HG03239.hp1 HG03688.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.97-1120G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870321 | |||||||
chr12:119870395 | C | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1194G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870395 | |||||||
chr12:119870426 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-1225G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870426 | |||||||
chr12:119870445 | G | C | 2 | a0001c0007t0005g0030 a0001c0013t0005g0029 |
2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.97-1244C>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870445 | |||||||
chr12:119870449 | T | C | 11 | a0001c0001t0005g0020 a0001c0003t0003g0024 a0001c0003t0003g0026 others(8): Show |
11 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.97-1248A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870449 | |||||||
chr12:119870549 | C | CA | 42 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(39): Show |
42 | HG00597.hp1 HG01081.hp1 HG01168.hp1 others(39): Show |
intron_variant | MODIFIER | c.97-1349dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | |||||||
chr12:119870549 | C | CAA | 62 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0047 others(59): Show |
62 | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.97-1350_97-1349dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | |||||||
chr12:119870549 | C | CAAA | 13 | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0174 others(10): Show |
13 | HG00733.hp1 HG01109.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.97-1351_97-1349dup others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | |||||||
chr12:119870549 | CA | C | 7 | a0001c0001t0001g0179 a0001c0002t0001g0058 a0001c0002t0014g0235 others(4): Show |
7 | HG02976.hp2 HG03098.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.97-1349delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | |||||||
chr12:119870549 | CAA | C | 7 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(4): Show |
7 | HG02717.hp2 HG02922.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.97-1350_97-1349del others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870549 | |||||||
chr12:119870634 | A | G | 59 | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0002g0095 others(56): Show |
59 | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.97-1433T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870634 | |||||||
chr12:119870833 | C | T | 59 | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0002g0095 others(56): Show |
59 | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.97-1632G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870833 | |||||||
chr12:119870839 | A | G | 196 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(193): Show |
196 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(193): Show |
intron_variant | MODIFIER | c.97-1638T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870839 | |||||||
chr12:119870901 | G | A | 4 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(1): Show |
4 | HG02717.hp2 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.97-1700C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870901 | |||||||
chr12:119870980 | G | A | 3 | a0001c0002t0002g0151 a0004c0019t0003g0002 a0004c0019t0003g0231 |
3 | HG02717.hp1 HG03130.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.97-1779C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119870980 | |||||||
chr12:119871074 | G | A | 1 | a0009c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.97-1873C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871074 | |||||||
chr12:119871088 | C | T | 15 | a0001c0005t0008g0215 a0001c0005t0010g0216 a0001c0005t0010g0217 others(12): Show |
15 | HG01109.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.97-1887G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871088 | |||||||
chr12:119871118 | T | TA | 180 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(177): Show |
180 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
intron_variant | MODIFIER | c.97-1918dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871118 | |||||||
chr12:119871118 | T | TAA | 12 | a0001c0001t0001g0018 a0001c0003t0003g0037 a0001c0003t0003g0040 others(9): Show |
12 | HG01168.hp1 HG02451.hp1 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.97-1919_97-1918dup others(2): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871118 | |||||||
chr12:119871457 | A | AAAAC | 3 | a0001c0002t0013g0048 a0004c0019t0003g0002 a0004c0019t0003g0231 |
3 | HG00738.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-2260_97-2257dup others(4): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871457 | |||||||
chr12:119871655 | A | G | 3 | a0001c0035t0003g0007 a0005c0018t0006g0005 a0005c0018t0006g0006 |
3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.97-2454T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119871655 | |||||||
chr12:119872205 | T | C | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.97-3004A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872205 | |||||||
chr12:119872247 | C | T | 13 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(10): Show |
13 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.97-3046G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872247 | |||||||
chr12:119872612 | A | T | 12 | a0001c0001t0001g0034 a0001c0003t0003g0037 a0001c0003t0003g0040 others(9): Show |
12 | HG01168.hp1 HG01169.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.97-3411T>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872612 | |||||||
chr12:119872889 | G | A | 2 | a0001c0001t0001g0047 a0001c0001t0001g0152 |
2 | HG00280.hp2 HG01081.hp1 |
intron_variant | MODIFIER | c.96+3184C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119872889 | |||||||
chr12:119873179 | C | G | 1 | a0001c0001t0001g0178 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.96+2894G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873179 | |||||||
chr12:119873268 | C | CT | 27 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
27 | HG00280.hp2 HG01243.hp2 HG01934.hp2 others(24): Show |
intron_variant | MODIFIER | c.96+2804dupA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873268 | |||||||
chr12:119873268 | CT | C | 10 | a0001c0001t0001g0157 a0001c0001t0004g0156 a0001c0002t0002g0155 others(7): Show |
10 | HG01515.hp1 HG02896.hp1 HG02897.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+2804delA | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873268 | |||||||
chr12:119873341 | A | G | 1 | a0001c0003t0003g0177 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.96+2732T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873341 | |||||||
chr12:119873428 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2645G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873428 | |||||||
chr12:119873435 | A | C | 2 | a0001c0002t0002g0045 a0001c0002t0002g0046 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.96+2638T>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873435 | |||||||
chr12:119873497 | C | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2576G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873497 | |||||||
chr12:119873543 | T | C | 1 | a0003c0033t0006g0176 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.96+2530A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873543 | |||||||
chr12:119873899 | T | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+2174A>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873899 | |||||||
chr12:119873947 | G | T | 2 | a0001c0030t0005g0032 a0002c0004t0007g0033 |
2 | HG02886.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.96+2126C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873947 | |||||||
chr12:119873989 | C | G | 42 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(39): Show |
42 | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.96+2084G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119873989 | |||||||
chr12:119874342 | C | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+1731G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874342 | |||||||
chr12:119874364 | T | C | 19 | a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 others(16): Show |
19 | HG00733.hp1 HG01258.hp1 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.96+1709A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874364 | |||||||
chr12:119874695 | A | G | 196 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(193): Show |
196 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(193): Show |
intron_variant | MODIFIER | c.96+1378T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874695 | |||||||
chr12:119874702 | C | A | 1 | a0001c0001t0023g0214 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.96+1371G>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874702 | |||||||
chr12:119874713 | C | T | 2 | a0001c0007t0005g0030 a0001c0013t0005g0029 |
2 | HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.96+1360G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874713 | |||||||
chr12:119874768 | C | T | 6 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 others(3): Show |
6 | HG02717.hp2 HG02922.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+1305G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874768 | |||||||
chr12:119874885 | C | CA | 20 | a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0224 others(17): Show |
20 | HG00741.hp2 HG01109.hp1 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+1187dupT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874885 | |||||||
chr12:119874885 | CA | C | 6 | a0001c0003t0003g0031 a0001c0007t0005g0030 a0001c0013t0005g0029 others(3): Show |
6 | HG01069.hp1 HG02717.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.96+1187delT | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119874885 | |||||||
chr12:119875060 | G | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+1013C>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875060 | |||||||
chr12:119875287 | A | G | 1 | a0009c0032t0001g0028 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.96+786T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875287 | |||||||
chr12:119875425 | T | C | 10 | a0001c0001t0005g0020 a0001c0003t0003g0024 a0001c0003t0003g0026 others(7): Show |
10 | HG01243.hp2 HG02717.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.96+648A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875425 | |||||||
chr12:119875706 | T | C | 26 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(23): Show |
26 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(23): Show |
intron_variant | MODIFIER | c.96+367A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875706 | |||||||
chr12:119875707 | G | A | 24 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(21): Show |
24 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(21): Show |
intron_variant | MODIFIER | c.96+366C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875707 | |||||||
chr12:119875779 | C | T | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.96+294G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875779 | |||||||
chr12:119875845 | G | A | 4 | a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0013t0003g0025 others(1): Show |
4 | HG01243.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+228C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 2/47 | chr12 | 119875845 | |||||||
chr12:119876202 | T | C | 1 | a0001c0001t0001g0230 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-13-21A>G | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876202 | |||||||
chr12:119876365 | G | A | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-13-184C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876365 | |||||||
chr12:119876500 | C | T | 21 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show |
21 | HG01243.hp2 HG01934.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.-13-319G>A | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876500 | |||||||
chr12:119876713 | A | G | 1 | a0001c0001t0005g0020 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-13-532T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876713 | |||||||
chr12:119876771 | G | A | 12 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(9): Show |
12 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.-14+478C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876771 | |||||||
chr12:119876906 | A | G | 2 | a0004c0019t0003g0002 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.-14+343T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876906 | |||||||
chr12:119876930 | G | A | 3 | a0001c0001t0005g0020 a0001c0005t0008g0021 a0001c0005t0008g0022 |
3 | HG02717.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-14+319C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119876930 | |||||||
chr12:119877094 | C | G | 23 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(20): Show |
23 | HG01934.hp2 HG02257.hp2 HG02559.hp1 others(20): Show |
intron_variant | MODIFIER | c.-14+155G>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877094 | |||||||
chr12:119877107 | A | G | 1 | a0001c0001t0001g0001 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-14+142T>C | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877107 | |||||||
chr12:119877128 | G | A | 2 | a0001c0001t0001g0232 a0004c0019t0003g0231 |
2 | HG02717.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.-14+121C>T | CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/47 | chr12 | 119877128 |