Item | Value |
---|---|
geneid | 4864 |
ensemblid | ENSG00000141458.13 |
hgncid | 7897 |
symbol | NPC1 |
name | NPC intracellular cholesterol transporter 1 |
refseq_nuc | NM_000271.5 |
refseq_prot | NP_000262.2 |
ensembl_nuc | ENST00000269228.10 |
ensembl_prot | ENSP00000269228.4 |
mane_status | MANE Select |
chr | chr18 |
start | 23531442 |
end | 23586506 |
strand | - |
ver | v1.2 |
region | chr18:23531442-23586506 |
region5000 | chr18:23526442-23591506 |
regionname0 | NPC1_chr18_23531442_23586506 |
regionname5000 | NPC1_chr18_23526442_23591506 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 1278 | 106 | 39 | 8 | 43 | 0 | 15 | 30 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0002 | 0/0 | 1278 | 71 | 19 | 9 | 42 | 0 | 1 | 32 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0003 | 0/0 | 1278 | 68 | 10 | 13 | 32 | 3 | 10 | 30 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0004 | 0/0 | 1278 | 62 | 1 | 15 | 38 | 4 | 4 | 32 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0005 | 1/0 | 1278 | 47 | 7 | 13 | 14 | 5 | 7 | 8 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0006 | 0/0 | 1278 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0007 | 0/0 | 1278 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0008 | 0/0 | 1278 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0009 | 0/0 | 1278 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0010 | 0/0 | 1278 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0011 | 0/0 | 1278 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0012 | 0/0 | 87 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(82): Show |
chr18 | 23526442 | 23591506 |
a0013 | 0/0 | 1278 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0014 | 0/0 | 1278 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0015 | 0/0 | 1278 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0016 | 0/0 | 1278 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0017 | 0/0 | 1278 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0018 | 0/0 | 1278 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
a0019 | 0/0 | 1278 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | MTARG others(1273): Show |
chr18 | 23526442 | 23591506 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 3834 | 76 | 28 | 2 | 39 | 0 | 7 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0006 | 0/1 | 3834 | 18 | 3 | 4 | 2 | 0 | 8 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0010 | 0/0 | 3834 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0012 | 0/0 | 3834 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0014 | 0/0 | 3834 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0016 | 0/0 | 3834 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0017 | 0/0 | 3834 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0001c0028 | 0/0 | 3834 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0002c0002 | 0/0 | 3834 | 69 | 19 | 8 | 42 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0002c0025 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0002c0034 | 0/0 | 3834 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0003c0003 | 0/0 | 3834 | 63 | 6 | 12 | 32 | 3 | 10 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0003c0011 | 0/0 | 3834 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0003c0019 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0003c0029 | 0/0 | 3834 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0004c0004 | 0/0 | 3834 | 61 | 1 | 14 | 38 | 4 | 4 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0004c0031 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0005c0005 | 1/0 | 3834 | 44 | 6 | 11 | 14 | 5 | 7 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0005c0013 | 0/0 | 3834 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0005c0027 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0006c0007 | 0/0 | 3834 | 5 | 5 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0007c0008 | 0/0 | 3834 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0008c0009 | 0/0 | 3834 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0009c0015 | 0/0 | 3834 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0010c0033 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0011c0020 | 0/0 | 3834 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0012c0018 | 0/0 | 3782 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3777): Show |
chr18 | 23526442 | 23591506 | ||
a0013c0024 | 0/0 | 3834 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0014c0022 | 0/0 | 3834 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0015c0021 | 0/0 | 3834 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0016c0026 | 0/0 | 3834 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0017c0032 | 0/0 | 3834 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0018c0023 | 0/0 | 3834 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 | ||
a0019c0030 | 0/0 | 3834 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | ATGAC others(3829): Show |
chr18 | 23526442 | 23591506 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 4760 | 18 | 17 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0001t0002 | 0/0 | 4759 | 45 | 0 | 0 | 39 | 0 | 6 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0001c0001t0003 | 0/0 | 4760 | 13 | 11 | 2 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0006t0001 | 0/1 | 4760 | 16 | 1 | 4 | 2 | 0 | 8 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0006t0003 | 0/0 | 4760 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0010t0001 | 0/0 | 4760 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0012t0003 | 0/0 | 4760 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0014t0003 | 0/0 | 4760 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0001c0016t0008 | 0/0 | 4759 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0001c0017t0002 | 0/0 | 4759 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0001c0028t0003 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0002t0001 | 0/0 | 4760 | 59 | 9 | 8 | 42 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0002t0004 | 0/0 | 4760 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0002t0005 | 0/0 | 4760 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0002t0006 | 0/0 | 4760 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0025t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0002c0034t0001 | 0/0 | 4760 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0003t0001 | 0/0 | 4760 | 58 | 5 | 12 | 29 | 3 | 9 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0003t0003 | 0/0 | 4760 | 2 | 0 | 0 | 1 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0003t0009 | 0/0 | 4760 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0003t0010 | 0/0 | 4760 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0003t0013 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0011t0003 | 0/0 | 4760 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0019t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0003c0029t0003 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0004c0004t0001 | 0/0 | 4760 | 58 | 1 | 13 | 36 | 4 | 4 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0004c0004t0003 | 0/0 | 4760 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0004c0004t0007 | 0/0 | 4759 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0004c0004t0011 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0004c0031t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0005c0005t0001 | 1/0 | 4760 | 42 | 6 | 11 | 13 | 5 | 6 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0005c0005t0007 | 0/0 | 4759 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0005c0005t0012 | 0/0 | 4760 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0005c0013t0001 | 0/0 | 4760 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0005c0027t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0006c0007t0001 | 0/0 | 4760 | 5 | 5 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0007c0008t0001 | 0/0 | 4760 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0008c0009t0001 | 0/0 | 4760 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0009c0015t0003 | 0/0 | 4760 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0010c0033t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0011c0020t0001 | 0/0 | 4760 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0012c0018t0001 | 0/0 | 4708 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4703): Show |
chr18 | 23526442 | 23591506 |
a0013c0024t0001 | 0/0 | 4760 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0014c0022t0001 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0015c0021t0001 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0016c0026t0001 | 0/0 | 4760 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0017c0032t0001 | 0/0 | 4760 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4755): Show |
chr18 | 23526442 | 23591506 |
a0018c0023t0002 | 0/0 | 4759 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
a0019c0030t0002 | 0/0 | 4759 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | CTTCC others(4754): Show |
chr18 | 23526442 | 23591506 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0001g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0001 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0300 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0302 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0307 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0325 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0334 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0336 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0337 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0002g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0013 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0328 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0330 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0343 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0344 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0001t0003g0350 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0006 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0018 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0003g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0006t0003g0342 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0010t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0010t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0010t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0012t0003g0348 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0012t0003g0349 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0014t0003g0352 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0014t0003g0353 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0016t0008g0312 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0016t0008g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0017t0002g0338 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0017t0002g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0001c0028t0003g0345 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0002 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0007 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0004g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0004g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0004g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0004g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0005g0354 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0005g0355 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0005g0356 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0005g0357 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0006g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0002t0006g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0025t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0002c0034t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0260 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0263 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0266 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0001g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0003g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0003g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0009g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0010g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0003t0013g0359 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0011t0003g0005 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0019t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0003c0029t0003g0351 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0003g0341 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0007g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0004t0011g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0004c0031t0001g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0120 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0007g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0005t0012g0358 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0013t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0013t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0005c0027t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0006c0007t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0006c0007t0001g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0006c0007t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0006c0007t0001g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0006c0007t0001g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0007c0008t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0007c0008t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0007c0008t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0008c0009t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0008c0009t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0008c0009t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0009c0015t0003g0346 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0009c0015t0003g0347 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0010c0033t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0011c0020t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0012c0018t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0013c0024t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0014c0022t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0015c0021t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0016c0026t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0017c0032t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0018c0023t0002g0335 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
a0019c0030t0002g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0005 | c0005 | t0001 | g0121 | EUR | GBR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00140 | hp2 | a0003 | c0003 | t0001 | g0260 | EUR | GBR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00323 | hp1 | a0004 | c0004 | t0001 | g0244 | EUR | FIN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00323 | hp2 | a0003 | c0003 | t0001 | g0266 | EUR | FIN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00408 | hp1 | a0002 | c0002 | t0001 | g0070 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00408 | hp2 | a0003 | c0003 | t0001 | g0281 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00423 | hp1 | a0002 | c0002 | t0001 | g0079 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00423 | hp2 | a0001 | c0001 | t0002 | g0297 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00438 | hp1 | a0004 | c0004 | t0001 | g0226 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00438 | hp2 | a0001 | c0001 | t0002 | g0334 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00544 | hp1 | a0002 | c0002 | t0001 | g0078 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00544 | hp2 | a0001 | c0006 | t0001 | g0006 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00558 | hp1 | a0001 | c0001 | t0002 | g0319 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00558 | hp2 | a0002 | c0002 | t0001 | g0051 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00621 | hp1 | a0004 | c0004 | t0001 | g0194 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00621 | hp2 | a0002 | c0002 | t0001 | g0087 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00642 | hp1 | a0002 | c0002 | t0001 | g0054 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00642 | hp2 | a0005 | c0013 | t0001 | g0127 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00673 | hp1 | a0001 | c0001 | t0002 | g0292 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00673 | hp2 | a0004 | c0004 | t0001 | g0010 | EAS | CHS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00733 | hp1 | a0004 | c0004 | t0001 | g0272 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00733 | hp2 | a0001 | c0006 | t0001 | g0019 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00735 | hp1 | a0005 | c0005 | t0001 | g0139 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00735 | hp2 | a0001 | c0006 | t0001 | g0020 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00738 | hp1 | a0003 | c0003 | t0001 | g0262 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG00738 | hp2 | a0003 | c0019 | t0001 | g0025 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01069 | hp1 | a0002 | c0002 | t0001 | g0046 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01069 | hp2 | a0003 | c0003 | t0001 | g0264 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01070 | hp1 | a0010 | c0033 | t0001 | g0220 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01070 | hp2 | a0005 | c0005 | t0001 | g0151 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01071 | hp1 | a0003 | c0003 | t0001 | g0265 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01071 | hp2 | a0005 | c0005 | t0001 | g0152 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01074 | hp1 | a0005 | c0005 | t0001 | g0145 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01074 | hp2 | a0004 | c0004 | t0001 | g0224 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01081 | hp1 | a0002 | c0002 | t0001 | g0077 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01081 | hp2 | a0004 | c0004 | t0001 | g0176 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01106 | hp1 | a0003 | c0003 | t0001 | g0249 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01106 | hp2 | a0002 | c0002 | t0001 | g0081 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01109 | hp1 | a0009 | c0015 | t0003 | g0347 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01109 | hp2 | a0003 | c0003 | t0001 | g0259 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01167 | hp1 | a0001 | c0001 | t0003 | g0013 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01167 | hp2 | a0002 | c0002 | t0001 | g0058 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01168 | hp1 | a0002 | c0025 | t0001 | g0111 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01168 | hp2 | a0004 | c0004 | t0001 | g0012 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01169 | hp1 | a0001 | c0001 | t0003 | g0330 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01169 | hp2 | a0004 | c0004 | t0001 | g0012 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01175 | hp1 | a0004 | c0004 | t0001 | g0252 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01175 | hp2 | a0005 | c0005 | t0001 | g0146 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01192 | hp1 | a0004 | c0004 | t0001 | g0162 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01192 | hp2 | a0003 | c0003 | t0001 | g0231 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01243 | hp1 | a0002 | c0002 | t0001 | g0044 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01243 | hp2 | a0004 | c0004 | t0001 | g0218 | AMR | PUR | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01255 | hp1 | a0001 | c0006 | t0001 | g0017 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01255 | hp2 | a0005 | c0005 | t0001 | g0119 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01256 | hp1 | a0004 | c0004 | t0001 | g0221 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01256 | hp2 | a0011 | c0020 | t0001 | g0129 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01346 | hp1 | a0012 | c0018 | t0001 | g0161 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01346 | hp2 | a0004 | c0004 | t0011 | g0211 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01361 | hp1 | a0004 | c0004 | t0001 | g0169 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01361 | hp2 | a0005 | c0005 | t0001 | g0154 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01433 | hp1 | a0003 | c0003 | t0001 | g0237 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01433 | hp2 | a0001 | c0006 | t0001 | g0024 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01496 | hp1 | a0005 | c0005 | t0001 | g0158 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01496 | hp2 | a0003 | c0003 | t0001 | g0235 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01515 | hp1 | a0004 | c0004 | t0001 | g0173 | EUR | IBS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01515 | hp2 | a0005 | c0005 | t0001 | g0140 | EUR | IBS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01517 | hp1 | a0003 | c0003 | t0001 | g0263 | EUR | IBS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01517 | hp2 | a0005 | c0005 | t0001 | g0155 | EUR | IBS | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01884 | hp1 | a0005 | c0005 | t0001 | g0009 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0115 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01891 | hp1 | a0005 | c0005 | t0001 | g0157 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01891 | hp2 | a0002 | c0002 | t0001 | g0041 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01952 | hp1 | a0003 | c0003 | t0001 | g0207 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01952 | hp2 | a0005 | c0005 | t0001 | g0137 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01975 | hp1 | a0002 | c0002 | t0001 | g0050 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01975 | hp2 | a0005 | c0027 | t0001 | g0132 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01978 | hp1 | a0004 | c0031 | t0001 | g0253 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01978 | hp2 | a0003 | c0003 | t0001 | g0250 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01993 | hp1 | a0004 | c0004 | t0001 | g0172 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01993 | hp2 | a0002 | c0002 | t0001 | g0074 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02004 | hp1 | a0003 | c0003 | t0001 | g0234 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02004 | hp2 | a0001 | c0016 | t0008 | g0321 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02015 | hp1 | a0005 | c0005 | t0001 | g0124 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02015 | hp2 | a0003 | c0003 | t0001 | g0280 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02027 | hp1 | a0002 | c0002 | t0001 | g0094 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02027 | hp2 | a0005 | c0005 | t0001 | g0122 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02040 | hp1 | a0013 | c0024 | t0001 | g0279 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02040 | hp2 | a0004 | c0004 | t0003 | g0341 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02055 | hp1 | a0001 | c0014 | t0003 | g0353 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02055 | hp2 | a0002 | c0002 | t0005 | g0357 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02056 | hp1 | a0004 | c0004 | t0001 | g0257 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02056 | hp2 | a0002 | c0002 | t0001 | g0083 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02074 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02074 | hp2 | a0005 | c0005 | t0001 | g0126 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02080 | hp1 | a0005 | c0005 | t0001 | g0160 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02080 | hp2 | a0002 | c0002 | t0001 | g0066 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02083 | hp1 | a0004 | c0004 | t0001 | g0225 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02083 | hp2 | a0001 | c0017 | t0002 | g0339 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02129 | hp1 | a0001 | c0006 | t0001 | g0016 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02129 | hp2 | a0001 | c0001 | t0002 | g0313 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02132 | hp1 | a0001 | c0001 | t0002 | g0326 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02132 | hp2 | a0005 | c0005 | t0012 | g0358 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02135 | hp1 | a0005 | c0005 | t0001 | g0142 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02135 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | KHV | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02145 | hp1 | a0002 | c0002 | t0001 | g0059 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02145 | hp2 | a0001 | c0001 | t0003 | g0350 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02148 | hp1 | a0003 | c0003 | t0001 | g0203 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02148 | hp2 | a0005 | c0005 | t0001 | g0150 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02155 | hp1 | a0001 | c0001 | t0002 | g0309 | EAS | CDX | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02155 | hp2 | a0002 | c0002 | t0001 | g0064 | EAS | CDX | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0106 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02257 | hp2 | a0003 | c0003 | t0001 | g0112 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02258 | hp1 | a0008 | c0009 | t0001 | g0035 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02258 | hp2 | a0001 | c0010 | t0001 | g0032 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02280 | hp1 | a0014 | c0022 | t0001 | g0086 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02280 | hp2 | a0015 | c0021 | t0001 | g0037 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02300 | hp1 | a0004 | c0004 | t0001 | g0223 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02300 | hp2 | a0001 | c0016 | t0008 | g0312 | AMR | PEL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02451 | hp1 | a0002 | c0002 | t0004 | g0082 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02451 | hp2 | a0006 | c0007 | t0001 | g0170 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02602 | hp1 | a0001 | c0001 | t0002 | g0304 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02602 | hp2 | a0003 | c0003 | t0001 | g0269 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02615 | hp1 | a0001 | c0010 | t0001 | g0100 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02615 | hp2 | a0002 | c0002 | t0004 | g0101 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02630 | hp1 | a0001 | c0001 | t0003 | g0333 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02630 | hp2 | a0008 | c0009 | t0001 | g0084 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02647 | hp1 | a0002 | c0002 | t0001 | g0039 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02647 | hp2 | a0001 | c0028 | t0003 | g0345 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02698 | hp1 | a0003 | c0003 | t0001 | g0247 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02698 | hp2 | a0001 | c0001 | t0002 | g0300 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02717 | hp1 | a0003 | c0003 | t0001 | g0168 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02717 | hp2 | a0005 | c0005 | t0001 | g0147 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02723 | hp1 | a0002 | c0002 | t0004 | g0099 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02723 | hp2 | a0002 | c0002 | t0001 | g0038 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02735 | hp1 | a0005 | c0005 | t0001 | g0125 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02735 | hp2 | a0002 | c0034 | t0001 | g0034 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02738 | hp1 | a0001 | c0006 | t0001 | g0022 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02738 | hp2 | a0005 | c0005 | t0001 | g0159 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02809 | hp1 | a0001 | c0001 | t0003 | g0289 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02809 | hp2 | a0006 | c0007 | t0001 | g0268 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02886 | hp1 | a0002 | c0002 | t0001 | g0053 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02896 | hp1 | a0006 | c0007 | t0001 | g0286 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02897 | hp1 | a0006 | c0007 | t0001 | g0287 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02897 | hp2 | a0002 | c0002 | t0005 | g0356 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02922 | hp1 | a0002 | c0002 | t0005 | g0355 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02922 | hp2 | a0001 | c0012 | t0003 | g0349 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02965 | hp2 | a0002 | c0002 | t0001 | g0043 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02970 | hp1 | a0002 | c0002 | t0004 | g0232 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02976 | hp2 | a0001 | c0001 | t0003 | g0294 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03017 | hp1 | a0005 | c0005 | t0001 | g0138 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03017 | hp2 | a0001 | c0001 | t0002 | g0302 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0103 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03041 | hp2 | a0002 | c0002 | t0006 | g0091 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03098 | hp1 | a0001 | c0001 | t0003 | g0327 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03098 | hp2 | a0001 | c0001 | t0003 | g0344 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03130 | hp1 | a0001 | c0010 | t0001 | g0033 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03130 | hp2 | a0007 | c0008 | t0001 | g0096 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03139 | hp1 | a0003 | c0011 | t0003 | g0005 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03139 | hp2 | a0001 | c0014 | t0003 | g0352 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03195 | hp1 | a0001 | c0001 | t0003 | g0331 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03195 | hp2 | a0009 | c0015 | t0003 | g0346 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03209 | hp1 | a0005 | c0005 | t0001 | g0009 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03209 | hp2 | a0002 | c0002 | t0005 | g0354 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03225 | hp1 | a0016 | c0026 | t0001 | g0055 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03225 | hp2 | a0008 | c0009 | t0001 | g0085 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03239 | hp1 | a0017 | c0032 | t0001 | g0175 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03239 | hp2 | a0003 | c0003 | t0001 | g0021 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03453 | hp1 | a0001 | c0001 | t0003 | g0328 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0288 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03486 | hp1 | a0007 | c0008 | t0001 | g0008 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03486 | hp2 | a0003 | c0003 | t0013 | g0359 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03490 | hp1 | a0005 | c0005 | t0001 | g0123 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03490 | hp2 | a0001 | c0006 | t0001 | g0028 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03492 | hp1 | a0003 | c0003 | t0001 | g0205 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03492 | hp2 | a0001 | c0006 | t0001 | g0027 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03516 | hp1 | a0007 | c0008 | t0001 | g0095 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03516 | hp2 | a0001 | c0006 | t0003 | g0329 | AFR | ESN | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03540 | hp1 | a0001 | c0001 | t0003 | g0343 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03540 | hp2 | a0002 | c0002 | t0001 | g0040 | AFR | GWD | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03579 | hp1 | a0001 | c0001 | t0001 | g0114 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03579 | hp2 | a0005 | c0005 | t0001 | g0156 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03654 | hp1 | a0001 | c0006 | t0001 | g0030 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0048 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03688 | hp1 | a0001 | c0006 | t0001 | g0023 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03688 | hp2 | a0003 | c0003 | t0001 | g0238 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03704 | hp1 | a0004 | c0004 | t0001 | g0217 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03704 | hp2 | a0001 | c0006 | t0001 | g0015 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03710 | hp1 | a0005 | c0005 | t0001 | g0134 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03710 | hp2 | a0001 | c0001 | t0002 | g0337 | SAS | PJL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03831 | hp1 | a0003 | c0003 | t0001 | g0251 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03831 | hp2 | a0005 | c0005 | t0007 | g0149 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03834 | hp1 | a0003 | c0003 | t0003 | g0299 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03834 | hp2 | a0001 | c0006 | t0001 | g0006 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03927 | hp1 | a0003 | c0003 | t0001 | g0248 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03927 | hp2 | a0001 | c0001 | t0002 | g0325 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04115 | hp1 | a0001 | c0006 | t0001 | g0029 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04115 | hp2 | a0003 | c0003 | t0001 | g0208 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04184 | hp1 | a0004 | c0004 | t0001 | g0166 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04184 | hp2 | a0001 | c0001 | t0002 | g0307 | SAS | BEB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04199 | hp1 | a0003 | c0003 | t0001 | g0014 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG04199 | hp2 | a0004 | c0004 | t0001 | g0189 | SAS | STU | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18522 | hp1 | a0003 | c0003 | t0001 | g0245 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18612 | hp1 | a0002 | c0002 | t0001 | g0073 | EAS | CHB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18612 | hp2 | a0001 | c0001 | t0002 | g0305 | EAS | CHB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18906 | hp1 | a0002 | c0002 | t0006 | g0090 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0105 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18940 | hp1 | a0018 | c0023 | t0002 | g0335 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18940 | hp2 | a0003 | c0003 | t0001 | g0278 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18941 | hp1 | a0002 | c0002 | t0001 | g0185 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18941 | hp2 | a0004 | c0004 | t0001 | g0219 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18942 | hp1 | a0005 | c0005 | t0001 | g0163 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18942 | hp2 | a0003 | c0003 | t0001 | g0182 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18943 | hp1 | a0001 | c0001 | t0002 | g0322 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18943 | hp2 | a0004 | c0004 | t0001 | g0196 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18944 | hp1 | a0002 | c0002 | t0001 | g0056 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18944 | hp2 | a0001 | c0001 | t0002 | g0306 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18945 | hp1 | a0002 | c0002 | t0001 | g0075 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18945 | hp2 | a0001 | c0001 | t0002 | g0323 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18946 | hp1 | a0002 | c0002 | t0001 | g0187 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18946 | hp2 | a0004 | c0004 | t0001 | g0216 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18947 | hp1 | a0002 | c0002 | t0001 | g0071 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18947 | hp2 | a0004 | c0004 | t0001 | g0198 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18948 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18948 | hp2 | a0004 | c0004 | t0001 | g0188 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18950 | hp1 | a0001 | c0001 | t0002 | g0315 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18950 | hp2 | a0004 | c0004 | t0001 | g0201 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18951 | hp1 | a0003 | c0003 | t0009 | g0174 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18951 | hp2 | a0004 | c0004 | t0001 | g0197 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18956 | hp1 | a0002 | c0002 | t0001 | g0031 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18956 | hp2 | a0003 | c0003 | t0001 | g0277 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18957 | hp1 | a0002 | c0002 | t0001 | g0080 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18957 | hp2 | a0004 | c0004 | t0001 | g0186 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18959 | hp1 | a0002 | c0002 | t0001 | g0067 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18959 | hp2 | a0003 | c0003 | t0001 | g0261 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18960 | hp1 | a0001 | c0001 | t0002 | g0311 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18960 | hp2 | a0003 | c0003 | t0001 | g0178 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18962 | hp1 | a0005 | c0005 | t0001 | g0135 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18962 | hp2 | a0001 | c0001 | t0002 | g0320 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18963 | hp1 | a0003 | c0003 | t0001 | g0276 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18963 | hp2 | a0002 | c0002 | t0001 | g0089 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18964 | hp1 | a0005 | c0005 | t0001 | g0148 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18964 | hp2 | a0003 | c0003 | t0001 | g0228 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18966 | hp1 | a0003 | c0003 | t0001 | g0179 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18966 | hp2 | a0004 | c0004 | t0001 | g0267 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18967 | hp1 | a0002 | c0002 | t0001 | g0045 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18967 | hp2 | a0001 | c0001 | t0002 | g0296 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18968 | hp1 | a0001 | c0001 | t0002 | g0316 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18968 | hp2 | a0004 | c0004 | t0001 | g0191 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18969 | hp1 | a0002 | c0002 | t0001 | g0036 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18969 | hp2 | a0001 | c0001 | t0002 | g0290 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18970 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18970 | hp2 | a0004 | c0004 | t0001 | g0215 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18971 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18971 | hp2 | a0003 | c0003 | t0001 | g0229 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18972 | hp1 | a0001 | c0001 | t0002 | g0303 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18972 | hp2 | a0004 | c0004 | t0001 | g0240 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18977 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18977 | hp2 | a0004 | c0004 | t0001 | g0202 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18978 | hp1 | a0005 | c0005 | t0001 | g0118 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18978 | hp2 | a0003 | c0003 | t0003 | g0318 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18979 | hp1 | a0002 | c0002 | t0001 | g0052 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18979 | hp2 | a0003 | c0003 | t0001 | g0282 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18981 | hp1 | a0003 | c0003 | t0001 | g0181 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18981 | hp2 | a0003 | c0003 | t0001 | g0236 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18982 | hp1 | a0003 | c0003 | t0001 | g0165 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18982 | hp2 | a0002 | c0002 | t0001 | g0049 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18983 | hp1 | a0003 | c0003 | t0010 | g0273 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18983 | hp2 | a0004 | c0004 | t0001 | g0010 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18985 | hp1 | a0002 | c0002 | t0001 | g0062 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18985 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18986 | hp1 | a0002 | c0002 | t0001 | g0057 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18986 | hp2 | a0004 | c0004 | t0001 | g0171 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18988 | hp1 | a0003 | c0003 | t0001 | g0227 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18988 | hp2 | a0001 | c0001 | t0002 | g0293 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18989 | hp1 | a0001 | c0001 | t0002 | g0291 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18989 | hp2 | a0004 | c0004 | t0001 | g0210 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18997 | hp1 | a0004 | c0004 | t0001 | g0195 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18997 | hp2 | a0001 | c0001 | t0002 | g0340 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18998 | hp1 | a0003 | c0003 | t0001 | g0275 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18998 | hp2 | a0002 | c0002 | t0001 | g0063 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18999 | hp1 | a0003 | c0003 | t0001 | g0206 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18999 | hp2 | a0004 | c0004 | t0001 | g0213 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19000 | hp1 | a0003 | c0003 | t0001 | g0258 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19000 | hp2 | a0001 | c0001 | t0002 | g0324 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19001 | hp1 | a0002 | c0002 | t0001 | g0088 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19001 | hp2 | a0003 | c0003 | t0001 | g0184 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19002 | hp1 | a0005 | c0005 | t0001 | g0133 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19002 | hp2 | a0004 | c0004 | t0001 | g0239 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19003 | hp1 | a0004 | c0004 | t0001 | g0167 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19003 | hp2 | a0019 | c0030 | t0002 | g0314 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19004 | hp1 | a0004 | c0004 | t0001 | g0177 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19004 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19007 | hp1 | a0003 | c0003 | t0001 | g0011 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19007 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19009 | hp1 | a0005 | c0005 | t0001 | g0131 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19009 | hp2 | a0004 | c0004 | t0001 | g0255 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19010 | hp1 | a0002 | c0002 | t0001 | g0092 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19010 | hp2 | a0003 | c0003 | t0001 | g0270 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19030 | hp2 | a0003 | c0003 | t0001 | g0204 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19043 | hp1 | a0003 | c0011 | t0003 | g0005 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19043 | hp2 | a0001 | c0001 | t0003 | g0013 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19054 | hp1 | a0001 | c0001 | t0002 | g0308 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19054 | hp2 | a0004 | c0004 | t0001 | g0214 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19056 | hp1 | a0002 | c0002 | t0001 | g0283 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19056 | hp2 | a0001 | c0001 | t0002 | g0295 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19058 | hp1 | a0003 | c0003 | t0001 | g0233 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19058 | hp2 | a0005 | c0005 | t0001 | g0136 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19062 | hp1 | a0003 | c0003 | t0001 | g0011 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19062 | hp2 | a0002 | c0002 | t0001 | g0061 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19063 | hp1 | a0003 | c0003 | t0001 | g0183 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19063 | hp2 | a0002 | c0002 | t0001 | g0047 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19064 | hp1 | a0002 | c0002 | t0001 | g0072 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19064 | hp2 | a0003 | c0003 | t0001 | g0274 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19066 | hp1 | a0004 | c0004 | t0001 | g0209 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19066 | hp2 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19067 | hp1 | a0002 | c0002 | t0001 | g0068 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19067 | hp2 | a0004 | c0004 | t0001 | g0284 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19068 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19068 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19070 | hp1 | a0004 | c0004 | t0001 | g0271 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19070 | hp2 | a0001 | c0001 | t0002 | g0301 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19072 | hp1 | a0001 | c0001 | t0002 | g0336 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19072 | hp2 | a0002 | c0002 | t0001 | g0069 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19080 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19080 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19081 | hp1 | a0004 | c0004 | t0007 | g0192 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19081 | hp2 | a0001 | c0001 | t0002 | g0310 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19082 | hp1 | a0004 | c0004 | t0001 | g0246 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19082 | hp2 | a0001 | c0001 | t0002 | g0317 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19084 | hp1 | a0004 | c0004 | t0001 | g0200 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19084 | hp2 | a0003 | c0003 | t0001 | g0285 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19085 | hp1 | a0005 | c0005 | t0001 | g0164 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19085 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19087 | hp1 | a0002 | c0002 | t0001 | g0076 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19087 | hp2 | a0004 | c0004 | t0001 | g0199 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19088 | hp1 | a0002 | c0002 | t0001 | g0093 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19088 | hp2 | a0004 | c0004 | t0001 | g0222 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19090 | hp1 | a0001 | c0001 | t0002 | g0298 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19090 | hp2 | a0003 | c0003 | t0001 | g0230 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19091 | hp1 | a0002 | c0002 | t0001 | g0065 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19091 | hp2 | a0003 | c0003 | t0001 | g0180 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19240 | hp1 | a0002 | c0002 | t0001 | g0060 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA19240 | hp2 | a0007 | c0008 | t0001 | g0008 | AFR | YRI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20129 | hp1 | a0004 | c0004 | t0001 | g0242 | AFR | ASW | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20129 | hp2 | a0003 | c0011 | t0003 | g0005 | AFR | ASW | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20752 | hp1 | a0005 | c0005 | t0001 | g0143 | EUR | TSI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20752 | hp2 | a0004 | c0004 | t0001 | g0256 | EUR | TSI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20805 | hp1 | a0005 | c0005 | t0001 | g0153 | EUR | TSI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20805 | hp2 | a0004 | c0004 | t0001 | g0193 | EUR | TSI | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20905 | hp1 | a0005 | c0005 | t0001 | g0141 | SAS | GIH | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20905 | hp2 | a0004 | c0004 | t0001 | g0190 | SAS | GIH | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01123 | hp1 | a0004 | c0004 | t0001 | g0212 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG01123 | hp2 | a0005 | c0005 | t0001 | g0144 | AMR | CLM | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02109 | hp1 | a0001 | c0006 | t0001 | g0026 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0104 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0107 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02486 | hp2 | a0001 | c0001 | t0003 | g0332 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03471 | hp1 | a0005 | c0013 | t0001 | g0128 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG03471 | hp2 | a0003 | c0029 | t0003 | g0351 | AFR | MSL | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG06807 | hp1 | a0006 | c0007 | t0001 | g0243 | AFR | USA | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
HG06807 | hp2 | a0002 | c0002 | t0001 | g0042 | AFR | USA | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18955 | hp1 | a0004 | c0004 | t0001 | g0254 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA18955 | hp2 | a0001 | c0017 | t0002 | g0338 | EAS | JPT | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20300 | hp1 | a0003 | c0003 | t0001 | g0241 | AFR | USA | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA20300 | hp2 | a0005 | c0005 | t0001 | g0130 | AFR | USA | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA21309 | hp1 | a0001 | c0006 | t0003 | g0342 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
NA21309 | hp2 | a0001 | c0012 | t0003 | g0348 | AFR | LWK | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
homoSapiens | chm13v2 | a0001 | c0006 | t0001 | g0018 | REF | REF | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
homoSapiens | grch38p0 | a0005 | c0005 | t0001 | g0120 | REF | REF | NPC1_chr18_23526442_23591506 | NPC1 | chr18 | 23526442 | 23591506 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr18:23531442 | T | C | 1 | a0004 | 1 | HG01346.hp2 | splice_region_variant | LOW | c.*760A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | chr18 | 23531442 | |||||||
chr18:23532242 | C | T | 5 | a0002 a0008 a0014 others(2): Show |
77 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(74): Show |
missense_variant | MODERATE | c.3797G>A | p.Arg1266Gln | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 3960/4760 | 3797/3837 | 1266/1278 | chr18 | 23532242 | |||
chr18:23533511 | T | C | 1 | a0016 | 1 | HG03225.hp1 | missense_variant | MODERATE | c.3598A>G | p.Ser1200Gly | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/25 | 3761/4760 | 3598/3837 | 1200/1278 | chr18 | 23533511 | |||
chr18:23534502 | T | C | 1 | a0006 | 5 | HG02451.hp2 HG02809.hp2 HG02896.hp1 others(2): Show |
missense_variant | MODERATE | c.3535A>G | p.Met1179Val | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/25 | 3698/4760 | 3535/3837 | 1179/1278 | chr18 | 23534502 | |||
chr18:23538564 | G | C | 1 | a0010 | 1 | HG01070.hp1 | missense_variant | MODERATE | c.3019C>G | p.Pro1007Ala | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/25 | 3182/4760 | 3019/3837 | 1007/1278 | chr18 | 23538564 | |||
chr18:23539830 | C | T | 1 | a0013 | 1 | HG02040.hp1 | missense_variant | MODERATE | c.2776G>A | p.Ala926Thr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/25 | 2939/4760 | 2776/3837 | 926/1278 | chr18 | 23539830 | |||
chr18:23540480 | T | C | 9 | a0002 a0003 a0004 others(6): Show |
211 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(208): Show |
missense_variant | MODERATE | c.2572A>G | p.Ile858Val | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/25 | 2735/4760 | 2572/3837 | 858/1278 | chr18 | 23540480 | |||
chr18:23544981 | C | G | 16 | a0001 a0002 a0003 others(13): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
missense_variant | MODERATE | c.1926G>C | p.Met642Ile | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/25 | 2089/4760 | 1926/3837 | 642/1278 | chr18 | 23544981 | |||
chr18:23545037 | C | T | 1 | a0018 | 1 | NA18940.hp1 | missense_variant | MODERATE | c.1870G>A | p.Val624Ile | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/25 | 2033/4760 | 1870/3837 | 624/1278 | chr18 | 23545037 | |||
chr18:23554779 | G | A | 1 | a0009 | 2 | HG01109.hp1 HG03195.hp2 |
missense_variant | MODERATE | c.1532C>T | p.Thr511Met | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/25 | 1695/4760 | 1532/3837 | 511/1278 | chr18 | 23554779 | |||
chr18:23556269 | G | A | 1 | a0007 | 4 | HG03130.hp2 HG03486.hp1 HG03516.hp1 others(1): Show |
missense_variant | MODERATE | c.1300C>T | p.Pro434Ser | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/25 | 1463/4760 | 1300/3837 | 434/1278 | chr18 | 23556269 | |||
chr18:23556337 | C | T | 1 | a0014 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.1232G>A | p.Arg411Gln | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/25 | 1395/4760 | 1232/3837 | 411/1278 | chr18 | 23556337 | |||
chr18:23556584 | C | T | 1 | a0015 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.985G>A | p.Ala329Thr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/25 | 1148/4760 | 985/3837 | 329/1278 | chr18 | 23556584 | |||
chr18:23560363 | T | G | 1 | a0019 | 1 | NA19003.hp2 | missense_variant | MODERATE | c.749A>C | p.Lys250Thr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/25 | 912/4760 | 749/3837 | 250/1278 | chr18 | 23560363 | |||
chr18:23560468 | T | C | 3 | a0004 a0010 a0017 |
64 | HG00323.hp1 HG00438.hp1 HG00621.hp1 others(61): Show |
missense_variant | MODERATE | c.644A>G | p.His215Arg | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/25 | 807/4760 | 644/3837 | 215/1278 | chr18 | 23560468 | |||
chr18:23561450 | C | T | 1 | a0011 | 1 | HG01256.hp2 | missense_variant | MODERATE | c.541G>A | p.Ala181Thr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/25 | 704/4760 | 541/3837 | 181/1278 | chr18 | 23561450 | |||
chr18:23572111 | TTAGTGTC others(45): Show |
T | 1 | a0012 | 1 | HG01346.hp1 | frameshift_variant | HIGH | c.198_249delCTTCTTTG others(44): Show |
p.Phe66fs | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/25 | 412/4760 | 198/3837 | 66/1278 | chr18 | 23572111 | |||
chr18:23572152 | T | C | 1 | a0004 | 1 | HG01175.hp1 | missense_variant | MODERATE | c.209A>G | p.Asn70Ser | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/25 | 372/4760 | 209/3837 | 70/1278 | chr18 | 23572152 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr18:23533392 | G | A | 1 | a0002c0025 | 1 | HG01168.hp1 | synonymous_variant | LOW | c.3717C>T | p.His1239His | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/25 | 3880/4760 | 3717/3837 | 1239/1278 | chr18 | 23533392 | |||
chr18:23534476 | C | A | 1 | a0005c0013 | 2 | HG00642.hp2 HG03471.hp1 |
synonymous_variant | LOW | c.3561G>T | p.Ala1187Ala | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/25 | 3724/4760 | 3561/3837 | 1187/1278 | chr18 | 23534476 | |||
chr18:23535496 | G | A | 1 | a0016c0026 | 1 | HG03225.hp1 | synonymous_variant | LOW | c.3450C>T | p.Asn1150Asn | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/25 | 3613/4760 | 3450/3837 | 1150/1278 | chr18 | 23535496 | |||
chr18:23535505 | G | A | 1 | a0003c0011 | 3 | HG03139.hp1 NA19043.hp1 NA20129.hp2 |
synonymous_variant | LOW | c.3441C>T | p.Ile1147Ile | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/25 | 3604/4760 | 3441/3837 | 1147/1278 | chr18 | 23535505 | |||
chr18:23539813 | G | A | 15 | a0002c0002 a0002c0025 a0002c0034 others(12): Show |
211 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(208): Show |
splice_region_variant&synonymous_variant | LOW | c.2793C>T | p.Asn931Asn | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/25 | 2956/4760 | 2793/3837 | 931/1278 | chr18 | 23539813 | |||
chr18:23539945 | C | T | 1 | a0001c0012 | 2 | HG02922.hp2 NA21309.hp2 |
synonymous_variant | LOW | c.2661G>A | p.Pro887Pro | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/25 | 2824/4760 | 2661/3837 | 887/1278 | chr18 | 23539945 | |||
chr18:23544371 | G | A | 1 | a0001c0010 | 3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
synonymous_variant | LOW | c.2103C>T | p.Asn701Asn | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/25 | 2266/4760 | 2103/3837 | 701/1278 | chr18 | 23544371 | |||
chr18:23544401 | C | T | 1 | a0005c0027 | 1 | HG01975.hp2 | synonymous_variant | LOW | c.2073G>A | p.Pro691Pro | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/25 | 2236/4760 | 2073/3837 | 691/1278 | chr18 | 23544401 | |||
chr18:23551652 | C | T | 1 | a0004c0031 | 1 | HG01978.hp1 | synonymous_variant | LOW | c.1629G>A | p.Pro543Pro | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/25 | 1792/4760 | 1629/3837 | 543/1278 | chr18 | 23551652 | |||
chr18:23554808 | G | A | 2 | a0001c0010 a0001c0028 |
4 | HG02258.hp2 HG02615.hp1 HG02647.hp2 others(1): Show |
synonymous_variant | LOW | c.1503C>T | p.Asp501Asp | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/25 | 1666/4760 | 1503/3837 | 501/1278 | chr18 | 23554808 | |||
chr18:23556603 | G | A | 4 | a0001c0014 a0003c0011 a0003c0029 others(1): Show |
8 | HG01109.hp1 HG02055.hp1 HG03139.hp1 others(5): Show |
synonymous_variant | LOW | c.966C>T | p.Ser322Ser | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/25 | 1129/4760 | 966/3837 | 322/1278 | chr18 | 23556603 | |||
chr18:23561379 | G | A | 1 | a0002c0034 | 1 | HG02735.hp2 | synonymous_variant | LOW | c.612C>T | p.Thr204Thr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/25 | 775/4760 | 612/3837 | 204/1278 | chr18 | 23561379 | |||
chr18:23561451 | G | A | 1 | a0001c0016 | 2 | HG02004.hp2 HG02300.hp2 |
synonymous_variant | LOW | c.540C>T | p.Asp180Asp | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/25 | 703/4760 | 540/3837 | 180/1278 | chr18 | 23561451 | |||
chr18:23561490 | T | C | 1 | a0001c0017 | 2 | HG02083.hp2 NA18955.hp2 |
synonymous_variant | LOW | c.501A>G | p.Ser167Ser | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/25 | 664/4760 | 501/3837 | 167/1278 | chr18 | 23561490 | |||
chr18:23568899 | A | G | 2 | a0001c0006 a0003c0019 |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
synonymous_variant | LOW | c.387T>C | p.Tyr129Tyr | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/25 | 550/4760 | 387/3837 | 129/1278 | chr18 | 23568899 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr18:23531466 | TG | T | 7 | a0001c0001t0002 a0001c0016t0008 a0001c0017t0002 others(4): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
3_prime_UTR_variant | MODIFIER | c.*735delC | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 735 | chr18 | 23531466 | ||||||
chr18:23531708 | C | A | 1 | a0002c0002t0006 | 2 | HG03041.hp2 NA18906.hp1 |
3_prime_UTR_variant | MODIFIER | c.*494G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 494 | chr18 | 23531708 | ||||||
chr18:23531731 | A | C | 1 | a0003c0003t0010 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*471T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 471 | chr18 | 23531731 | ||||||
chr18:23532031 | C | G | 1 | a0003c0003t0009 | 1 | NA18951.hp1 | 3_prime_UTR_variant | MODIFIER | c.*171G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 171 | chr18 | 23532031 | ||||||
chr18:23532038 | A | G | 2 | a0002c0002t0004 a0002c0002t0006 |
6 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*164T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 164 | chr18 | 23532038 | ||||||
chr18:23532134 | C | T | 1 | a0001c0016t0008 | 2 | HG02004.hp2 HG02300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*68G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 25/25 | 68 | chr18 | 23532134 | ||||||
chr18:23586365 | T | G | 15 | a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 others(12): Show |
80 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(77): Show |
5_prime_UTR_variant | MODIFIER | c.-22A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/25 | 22 | chr18 | 23586365 | ||||||
chr18:23586375 | G | A | 1 | a0002c0002t0005 | 4 | HG02055.hp2 HG02897.hp2 HG02922.hp1 others(1): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-32C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/25 | chr18 | 23586375 | |||||||
chr18:23586396 | C | A | 1 | a0005c0005t0012 | 1 | HG02132.hp2 | 5_prime_UTR_variant | MODIFIER | c.-53G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/25 | 53 | chr18 | 23586396 | ||||||
chr18:23586439 | G | A | 1 | a0003c0003t0013 | 1 | HG03486.hp2 | 5_prime_UTR_variant | MODIFIER | c.-96C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/25 | 96 | chr18 | 23586439 | ||||||
chr18:23586440 | C | A | 1 | a0003c0003t0013 | 1 | HG03486.hp2 | 5_prime_UTR_variant | MODIFIER | c.-97G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/25 | 97 | chr18 | 23586440 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr18:23532356 | C | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3755-72G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532356 | |||||||
chr18:23532529 | T | A | 1 | a0003c0003t0003g0318 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.3755-245A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532529 | |||||||
chr18:23532529 | T | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-245A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532529 | |||||||
chr18:23532531 | T | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-247A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532531 | |||||||
chr18:23532533 | G | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-249C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532533 | |||||||
chr18:23532535 | C | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-251G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532535 | |||||||
chr18:23532539 | A | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-255T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532539 | |||||||
chr18:23532540 | G | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-256C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532540 | |||||||
chr18:23532542 | A | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-258T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532542 | |||||||
chr18:23532547 | T | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-263A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532547 | |||||||
chr18:23532563 | C | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-279G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532563 | |||||||
chr18:23532565 | A | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-281T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532565 | |||||||
chr18:23532567 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-283A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532567 | |||||||
chr18:23532570 | G | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-286C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532570 | |||||||
chr18:23532571 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-287A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532571 | |||||||
chr18:23532572 | G | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-288C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532572 | |||||||
chr18:23532574 | G | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-290C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532574 | |||||||
chr18:23532576 | C | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-292G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532576 | |||||||
chr18:23532577 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-293A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532577 | |||||||
chr18:23532582 | A | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-298T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532582 | |||||||
chr18:23532584 | G | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-300C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532584 | |||||||
chr18:23532588 | A | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-304T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532588 | |||||||
chr18:23532592 | C | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-308G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532592 | |||||||
chr18:23532593 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-309A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532593 | |||||||
chr18:23532594 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-310A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532594 | |||||||
chr18:23532595 | C | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-311G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532595 | |||||||
chr18:23532597 | C | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-313G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532597 | |||||||
chr18:23532598 | C | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-314G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532598 | |||||||
chr18:23532599 | T | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-315A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532599 | |||||||
chr18:23532601 | GCTAATTT others(4): Show |
G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-328_3755-318d others(13): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532601 | |||||||
chr18:23532613 | T | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-329A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532613 | |||||||
chr18:23532615 | T | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-331A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532615 | |||||||
chr18:23532625 | G | A | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-341C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532625 | |||||||
chr18:23532626 | A | G | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-342T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532626 | |||||||
chr18:23532628 | G | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-344C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532628 | |||||||
chr18:23532670 | T | C | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-386A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532670 | |||||||
chr18:23532676 | C | T | 1 | a0004c0004t0007g0192 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3755-392G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532676 | |||||||
chr18:23532695 | C | CT | 91 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0113 others(88): Show |
101 | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
intron_variant | MODIFIER | c.3755-412dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532695 | |||||||
chr18:23532695 | C | CTT | 81 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(78): Show |
84 | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(81): Show |
intron_variant | MODIFIER | c.3755-413_3755-412d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532695 | |||||||
chr18:23532695 | C | CTTT | 122 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(119): Show |
127 | HG00323.hp1 HG00621.hp1 HG00673.hp2 others(124): Show |
intron_variant | MODIFIER | c.3755-414_3755-412d others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532695 | |||||||
chr18:23532695 | C | CTTTT | 10 | a0003c0003t0001g0178 a0003c0003t0001g0181 a0003c0003t0001g0182 others(7): Show |
10 | HG00408.hp2 HG00438.hp1 HG02040.hp1 others(7): Show |
intron_variant | MODIFIER | c.3755-415_3755-412d others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532695 | |||||||
chr18:23532810 | C | G | 18 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(15): Show |
19 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.3755-526G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23532810 | |||||||
chr18:23533152 | C | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.3754+203G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23533152 | |||||||
chr18:23533194 | G | A | 1 | a0008c0009t0001g0035 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3754+161C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23533194 | |||||||
chr18:23533247 | A | C | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3754+108T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23533247 | |||||||
chr18:23533321 | T | C | 213 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(210): Show |
219 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(216): Show |
intron_variant | MODIFIER | c.3754+34A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 24/24 | chr18 | 23533321 | |||||||
chr18:23533587 | A | G | 50 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(47): Show |
57 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.3592-70T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23533587 | |||||||
chr18:23533665 | T | C | 1 | a0003c0011t0003g0005 | 3 | HG03139.hp1 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3592-148A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23533665 | |||||||
chr18:23533725 | C | T | 4 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 others(1): Show |
4 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3592-208G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23533725 | |||||||
chr18:23533891 | G | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3592-374C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23533891 | |||||||
chr18:23534115 | A | T | 2 | a0001c0006t0001g0027 a0001c0006t0001g0028 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3591+331T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23534115 | |||||||
chr18:23534134 | C | T | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3591+312G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23534134 | |||||||
chr18:23534290 | G | T | 3 | a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0298 |
3 | NA18967.hp2 NA18969.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.3591+156C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 23/24 | chr18 | 23534290 | |||||||
chr18:23534736 | T | C | 19 | a0001c0001t0002g0295 a0001c0006t0001g0006 a0001c0006t0001g0015 others(16): Show |
20 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.3478-177A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534736 | |||||||
chr18:23534783 | G | A | 1 | a0004c0004t0001g0212 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.3478-224C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534783 | |||||||
chr18:23534804 | T | C | 1 | a0001c0001t0001g0097 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3478-245A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534804 | |||||||
chr18:23534833 | C | T | 1 | a0004c0004t0001g0210 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.3478-274G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534833 | |||||||
chr18:23534834 | G | A | 1 | a0001c0006t0001g0019 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.3478-275C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534834 | |||||||
chr18:23534953 | A | G | 269 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(266): Show |
283 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(280): Show |
intron_variant | MODIFIER | c.3478-394T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23534953 | |||||||
chr18:23535033 | C | T | 118 | a0003c0003t0001g0011 a0003c0003t0001g0014 a0003c0003t0001g0021 others(115): Show |
121 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(118): Show |
intron_variant | MODIFIER | c.3477+436G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23535033 | |||||||
chr18:23535096 | A | G | 217 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(214): Show |
223 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(220): Show |
intron_variant | MODIFIER | c.3477+373T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23535096 | |||||||
chr18:23535130 | C | T | 2 | a0003c0003t0001g0275 a0003c0003t0001g0276 |
2 | NA18963.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.3477+339G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23535130 | |||||||
chr18:23535232 | T | C | 2 | a0004c0004t0001g0254 a0004c0004t0001g0255 |
2 | NA18955.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.3477+237A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 22/24 | chr18 | 23535232 | |||||||
chr18:23535720 | C | T | 6 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 others(3): Show |
6 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.3246-20G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535720 | |||||||
chr18:23535746 | G | A | 13 | a0003c0003t0001g0011 a0003c0003t0001g0203 a0003c0003t0001g0207 others(10): Show |
14 | HG00738.hp1 HG01074.hp2 HG01433.hp1 others(11): Show |
intron_variant | MODIFIER | c.3246-46C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535746 | |||||||
chr18:23535868 | A | C | 1 | a0001c0001t0002g0295 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.3246-168T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535868 | |||||||
chr18:23535890 | A | C | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3246-190T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535890 | |||||||
chr18:23535891 | G | A | 1 | a0017c0032t0001g0175 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3246-191C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535891 | |||||||
chr18:23535942 | A | C | 16 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(13): Show |
17 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.3246-242T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23535942 | |||||||
chr18:23536005 | C | CA | 4 | a0001c0001t0001g0108 a0001c0010t0001g0032 a0001c0010t0001g0033 others(1): Show |
4 | HG02258.hp2 HG02559.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.3246-306dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536005 | |||||||
chr18:23536005 | CAAAA | C | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.3246-309_3246-306d others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536005 | |||||||
chr18:23536102 | G | C | 1 | a0001c0001t0001g0048 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3246-402C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536102 | |||||||
chr18:23536211 | TAC | T | 6 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 others(3): Show |
6 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.3245+460_3245+461d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536211 | |||||||
chr18:23536286 | T | C | 1 | a0001c0001t0001g0048 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3245+387A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536286 | |||||||
chr18:23536316 | G | T | 1 | a0008c0009t0001g0035 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3245+357C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536316 | |||||||
chr18:23536358 | C | T | 10 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(7): Show |
11 | HG01167.hp1 HG01169.hp1 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.3245+315G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 21/24 | chr18 | 23536358 | |||||||
chr18:23537034 | A | G | 213 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(210): Show |
219 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(216): Show |
intron_variant | MODIFIER | c.3042-158T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537034 | |||||||
chr18:23537035 | C | G | 45 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(42): Show |
52 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.3042-159G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537035 | |||||||
chr18:23537070 | C | CT | 4 | a0001c0001t0003g0343 a0001c0001t0003g0344 a0003c0011t0003g0005 others(1): Show |
6 | HG03098.hp2 HG03139.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.3042-195dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537070 | |||||||
chr18:23537138 | G | A | 2 | a0002c0002t0006g0090 a0002c0002t0006g0091 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3042-262C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537138 | |||||||
chr18:23537408 | T | C | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.3042-532A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537408 | |||||||
chr18:23537455 | G | T | 206 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(203): Show |
214 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
intron_variant | MODIFIER | c.3042-579C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537455 | |||||||
chr18:23537554 | C | T | 1 | a0003c0003t0001g0281 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.3042-678G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537554 | |||||||
chr18:23537607 | C | A | 204 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(201): Show |
210 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(207): Show |
intron_variant | MODIFIER | c.3042-731G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537607 | |||||||
chr18:23537908 | A | G | 2 | a0005c0005t0001g0143 a0005c0005t0001g0153 |
2 | NA20752.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3041+634T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537908 | |||||||
chr18:23537961 | C | T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3041+581G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537961 | |||||||
chr18:23537965 | C | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3041+577G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23537965 | |||||||
chr18:23538061 | G | C | 206 | a0001c0001t0001g0048 a0001c0001t0003g0343 a0001c0001t0003g0344 others(203): Show |
212 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(209): Show |
intron_variant | MODIFIER | c.3041+481C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23538061 | |||||||
chr18:23538238 | G | A | 2 | a0009c0015t0003g0346 a0009c0015t0003g0347 |
2 | HG01109.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.3041+304C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 20/24 | chr18 | 23538238 | |||||||
chr18:23538757 | C | T | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2912-86G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23538757 | |||||||
chr18:23538788 | T | C | 2 | a0004c0004t0001g0195 a0004c0004t0001g0271 |
2 | NA18997.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2912-117A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23538788 | |||||||
chr18:23538923 | C | T | 2 | a0004c0004t0001g0194 a0004c0004t0001g0202 |
2 | HG00621.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.2912-252G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23538923 | |||||||
chr18:23539016 | G | A | 45 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(42): Show |
52 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(49): Show |
intron_variant | MODIFIER | c.2911+339C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539016 | |||||||
chr18:23539130 | C | T | 1 | a0002c0002t0001g0075 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.2911+225G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539130 | |||||||
chr18:23539131 | G | A | 5 | a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0028t0003g0345 others(2): Show |
5 | HG01109.hp1 HG02647.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.2911+224C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539131 | |||||||
chr18:23539201 | C | T | 1 | a0001c0006t0001g0030 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2911+154G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539201 | |||||||
chr18:23539283 | G | A | 1 | a0005c0005t0001g0153 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2911+72C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539283 | |||||||
chr18:23539327 | A | G | 234 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 others(231): Show |
243 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
intron_variant | MODIFIER | c.2911+28T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 19/24 | chr18 | 23539327 | |||||||
chr18:23539568 | A | C | 1 | a0005c0005t0001g0144 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2796-98T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/24 | chr18 | 23539568 | |||||||
chr18:23539730 | G | A | 1 | a0004c0004t0001g0257 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2795+81C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/24 | chr18 | 23539730 | |||||||
chr18:23539766 | A | G | 1 | a0005c0013t0001g0127 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2795+45T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 18/24 | chr18 | 23539766 | |||||||
chr18:23540071 | T | C | 234 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 others(231): Show |
243 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
intron_variant | MODIFIER | c.2605-70A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540071 | |||||||
chr18:23540092 | G | A | 1 | a0002c0002t0004g0099 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2605-91C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540092 | |||||||
chr18:23540150 | C | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2605-149G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540150 | |||||||
chr18:23540183 | C | A | 8 | a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 others(5): Show |
8 | HG01891.hp2 HG02145.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2605-182G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540183 | |||||||
chr18:23540190 | A | G | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2605-189T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540190 | |||||||
chr18:23540417 | T | TA | 6 | a0001c0001t0003g0332 a0001c0001t0003g0350 a0001c0012t0003g0348 others(3): Show |
6 | HG02145.hp2 HG02486.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2604+30dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540417 | |||||||
chr18:23540417 | TA | T | 12 | a0001c0001t0002g0320 a0001c0006t0001g0016 a0002c0002t0001g0069 others(9): Show |
12 | HG01070.hp2 HG01256.hp2 HG01515.hp1 others(9): Show |
intron_variant | MODIFIER | c.2604+30delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 17/24 | chr18 | 23540417 | |||||||
chr18:23540905 | A | G | 311 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(308): Show |
329 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(326): Show |
intron_variant | MODIFIER | c.2514+163T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 16/24 | chr18 | 23540905 | |||||||
chr18:23541062 | G | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.2514+6C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 16/24 | chr18 | 23541062 | |||||||
chr18:23541279 | T | C | 1 | a0004c0004t0001g0186 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.2373+27A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 15/24 | chr18 | 23541279 | |||||||
chr18:23541566 | G | A | 5 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(2): Show |
5 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2246-133C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541566 | |||||||
chr18:23541704 | A | C | 1 | a0005c0005t0001g0143 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2246-271T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541704 | |||||||
chr18:23541800 | T | C | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.2246-367A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541800 | |||||||
chr18:23541840 | G | C | 1 | a0003c0003t0009g0174 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2246-407C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541840 | |||||||
chr18:23541909 | T | C | 1 | a0004c0004t0001g0226 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2246-476A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541909 | |||||||
chr18:23541932 | C | T | 7 | a0004c0004t0001g0177 a0004c0004t0001g0201 a0004c0004t0001g0213 others(4): Show |
7 | NA18946.hp2 NA18950.hp2 NA18970.hp2 others(4): Show |
intron_variant | MODIFIER | c.2246-499G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23541932 | |||||||
chr18:23542243 | AAG | A | 126 | a0002c0002t0001g0072 a0003c0003t0001g0011 a0003c0003t0001g0014 others(123): Show |
129 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.2246-812_2246-811d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542243 | |||||||
chr18:23542256 | C | CT | 11 | a0001c0001t0001g0107 a0001c0001t0003g0343 a0001c0001t0003g0344 others(8): Show |
11 | HG01175.hp2 HG02055.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.2246-824dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542256 | |||||||
chr18:23542256 | CT | C | 53 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0001 others(50): Show |
61 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(58): Show |
intron_variant | MODIFIER | c.2246-824delA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542256 | |||||||
chr18:23542272 | T | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2246-839A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542272 | |||||||
chr18:23542373 | G | A | 4 | a0001c0006t0001g0022 a0001c0010t0001g0032 a0001c0010t0001g0033 others(1): Show |
4 | HG02258.hp2 HG02615.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2246-940C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542373 | |||||||
chr18:23542530 | T | TAC | 6 | a0005c0005t0001g0123 a0005c0005t0001g0130 a0005c0005t0001g0141 others(3): Show |
6 | HG00642.hp2 HG01975.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.2245+923_2245+924d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542530 | |||||||
chr18:23542608 | C | T | 8 | a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 others(5): Show |
8 | HG01891.hp2 HG02145.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2245+847G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542608 | |||||||
chr18:23542761 | G | T | 1 | a0003c0003t0001g0184 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.2245+694C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23542761 | |||||||
chr18:23543044 | C | T | 6 | a0005c0005t0001g0138 a0005c0005t0001g0139 a0005c0005t0001g0140 others(3): Show |
6 | HG00735.hp1 HG01361.hp2 HG01515.hp2 others(3): Show |
intron_variant | MODIFIER | c.2245+411G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543044 | |||||||
chr18:23543055 | C | T | 1 | a0001c0001t0002g0306 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.2245+400G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543055 | |||||||
chr18:23543114 | G | A | 2 | a0002c0002t0006g0090 a0002c0002t0006g0091 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2245+341C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543114 | |||||||
chr18:23543332 | G | GA | 205 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(202): Show |
212 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(209): Show |
intron_variant | MODIFIER | c.2245+122dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543332 | |||||||
chr18:23543332 | G | GAA | 8 | a0002c0002t0001g0007 a0002c0002t0001g0062 a0002c0002t0001g0065 others(5): Show |
9 | HG00544.hp1 HG01175.hp1 NA18985.hp1 others(6): Show |
intron_variant | MODIFIER | c.2245+121_2245+122d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543332 | |||||||
chr18:23543333 | A | AGAAAAAA others(8): Show |
6 | a0003c0003t0001g0245 a0006c0007t0001g0170 a0006c0007t0001g0243 others(3): Show |
6 | HG02451.hp2 HG02809.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.2245+121_2245+122i others(17): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543333 | |||||||
chr18:23543347 | G | A | 1 | a0003c0003t0001g0230 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.2245+108C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543347 | |||||||
chr18:23543351 | A | C | 1 | a0003c0003t0001g0281 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2245+104T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 14/24 | chr18 | 23543351 | |||||||
chr18:23543572 | TA | T | 291 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(288): Show |
309 | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(306): Show |
splice_region_variant&intron_variant | LOW | c.2131-4delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543572 | |||||||
chr18:23543572 | TAA | T | 10 | a0001c0001t0002g0336 a0001c0001t0003g0330 a0001c0006t0003g0329 others(7): Show |
10 | HG00323.hp1 HG00323.hp2 HG01069.hp2 others(7): Show |
splice_region_variant&intron_variant | LOW | c.2131-5_2131-4delTT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543572 | |||||||
chr18:23543669 | T | G | 3 | a0001c0006t0001g0027 a0001c0006t0001g0028 a0017c0032t0001g0175 |
3 | HG03239.hp1 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.2131-100A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543669 | |||||||
chr18:23543721 | C | T | 1 | a0003c0003t0001g0250 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2131-152G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543721 | |||||||
chr18:23543875 | G | A | 44 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(41): Show |
51 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.2131-306C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543875 | |||||||
chr18:23543926 | C | A | 1 | a0003c0003t0001g0184 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.2131-357G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23543926 | |||||||
chr18:23544042 | T | C | 1 | a0003c0003t0001g0203 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2130+302A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23544042 | |||||||
chr18:23544048 | C | A | 1 | a0001c0001t0002g0309 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2130+296G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23544048 | |||||||
chr18:23544157 | A | G | 2 | a0001c0016t0008g0312 a0001c0016t0008g0321 |
2 | HG02004.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.2130+187T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23544157 | |||||||
chr18:23544241 | A | G | 1 | a0001c0001t0001g0117 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2130+103T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23544241 | |||||||
chr18:23544272 | G | A | 1 | a0005c0005t0001g0150 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2130+72C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 13/24 | chr18 | 23544272 | |||||||
chr18:23544690 | G | C | 44 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(41): Show |
51 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.1948-164C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544690 | |||||||
chr18:23544757 | T | C | 1 | a0001c0006t0001g0029 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1947+203A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544757 | |||||||
chr18:23544837 | A | C | 60 | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0031 others(57): Show |
63 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.1947+123T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544837 | |||||||
chr18:23544870 | A | G | 27 | a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0003g0013 others(24): Show |
29 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1947+90T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544870 | |||||||
chr18:23544943 | A | AC | 26 | a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0288 others(23): Show |
27 | HG00733.hp2 HG00735.hp2 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.1947+16dupG | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544943 | |||||||
chr18:23544943 | A | ACCC | 46 | a0002c0002t0001g0007 a0002c0002t0001g0036 a0002c0002t0001g0038 others(43): Show |
47 | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.1947+14_1947+16dup others(3): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544943 | |||||||
chr18:23544943 | A | ACCCC | 52 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(49): Show |
55 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.1947+13_1947+16dup others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544943 | |||||||
chr18:23544943 | A | ACCCCC | 43 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0003c0003t0001g0180 others(40): Show |
43 | HG00738.hp1 HG01069.hp2 HG01109.hp2 others(40): Show |
intron_variant | MODIFIER | c.1947+12_1947+16dup others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544943 | |||||||
chr18:23544943 | A | ACCCCCC | 41 | a0001c0001t0001g0106 a0003c0003t0001g0112 a0003c0003t0001g0179 others(38): Show |
43 | HG00140.hp2 HG00621.hp1 HG00673.hp2 others(40): Show |
intron_variant | MODIFIER | c.1947+11_1947+16dup others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544943 | |||||||
chr18:23544945 | C | CG | 4 | a0001c0001t0003g0343 a0001c0001t0003g0344 a0003c0011t0003g0005 others(1): Show |
6 | HG03098.hp2 HG03139.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1947+14_1947+15ins others(1): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544945 | |||||||
chr18:23544946 | C | A | 44 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(41): Show |
51 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(48): Show |
intron_variant | MODIFIER | c.1947+14G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544946 | |||||||
chr18:23544950 | C | A | 1 | a0003c0003t0001g0251 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1947+10G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 12/24 | chr18 | 23544950 | |||||||
chr18:23545348 | T | C | 1 | a0014c0022t0001g0086 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1758-199A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23545348 | |||||||
chr18:23545635 | C | T | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1758-486G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23545635 | |||||||
chr18:23545762 | T | A | 1 | a0001c0006t0003g0329 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1758-613A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23545762 | |||||||
chr18:23545869 | A | C | 1 | a0003c0003t0001g0208 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1758-720T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23545869 | |||||||
chr18:23545978 | A | G | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.1758-829T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23545978 | |||||||
chr18:23546060 | C | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1758-911G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546060 | |||||||
chr18:23546077 | C | T | 2 | a0001c0001t0002g0300 a0001c0001t0002g0304 |
2 | HG02602.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.1758-928G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546077 | |||||||
chr18:23546117 | A | C | 273 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(270): Show |
289 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(286): Show |
intron_variant | MODIFIER | c.1758-968T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546117 | |||||||
chr18:23546131 | C | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1758-982G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546131 | |||||||
chr18:23546189 | C | T | 1 | a0005c0005t0001g0143 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1758-1040G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546189 | |||||||
chr18:23546248 | C | CA | 17 | a0001c0001t0002g0297 a0001c0001t0002g0298 a0002c0002t0001g0047 others(14): Show |
17 | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(14): Show |
intron_variant | MODIFIER | c.1758-1100dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546248 | |||||||
chr18:23546248 | C | CAA | 8 | a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0042 others(5): Show |
8 | HG00621.hp2 HG01106.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.1758-1101_1758-110 others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546248 | |||||||
chr18:23546248 | CA | C | 150 | a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0002g0001 others(147): Show |
161 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(158): Show |
intron_variant | MODIFIER | c.1758-1100delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546248 | |||||||
chr18:23546248 | CAA | C | 33 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0114 others(30): Show |
35 | HG00323.hp1 HG00733.hp2 HG01168.hp2 others(32): Show |
intron_variant | MODIFIER | c.1758-1101_1758-110 others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546248 | |||||||
chr18:23546248 | CAAA | C | 28 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(25): Show |
30 | HG00544.hp2 HG00735.hp2 HG00738.hp2 others(27): Show |
intron_variant | MODIFIER | c.1758-1102_1758-110 others(7): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546248 | |||||||
chr18:23546424 | T | C | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1758-1275A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546424 | |||||||
chr18:23546988 | C | T | 278 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(275): Show |
294 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(291): Show |
intron_variant | MODIFIER | c.1757+1018G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23546988 | |||||||
chr18:23547203 | A | G | 1 | a0001c0001t0001g0114 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1757+803T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547203 | |||||||
chr18:23547266 | T | C | 1 | a0001c0006t0003g0342 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1757+740A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547266 | |||||||
chr18:23547312 | G | A | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1757+694C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547312 | |||||||
chr18:23547412 | T | C | 1 | a0002c0034t0001g0034 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1757+594A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547412 | |||||||
chr18:23547498 | T | C | 2 | a0009c0015t0003g0346 a0009c0015t0003g0347 |
2 | HG01109.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1757+508A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547498 | |||||||
chr18:23547526 | A | G | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1757+480T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547526 | |||||||
chr18:23547614 | C | T | 1 | a0002c0034t0001g0034 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1757+392G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547614 | |||||||
chr18:23547788 | C | T | 1 | a0001c0017t0002g0338 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1757+218G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547788 | |||||||
chr18:23547911 | T | C | 2 | a0002c0002t0004g0099 a0002c0002t0004g0232 |
2 | HG02723.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.1757+95A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547911 | |||||||
chr18:23547914 | G | A | 1 | a0002c0002t0001g0078 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1757+92C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547914 | |||||||
chr18:23547946 | C | T | 201 | a0001c0001t0001g0048 a0001c0001t0003g0343 a0001c0001t0003g0344 others(198): Show |
206 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(203): Show |
intron_variant | MODIFIER | c.1757+60G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 11/24 | chr18 | 23547946 | |||||||
chr18:23548327 | G | A | 1 | a0005c0005t0001g0136 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1655-219C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548327 | |||||||
chr18:23548328 | G | A | 1 | a0005c0005t0001g0136 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1655-220C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548328 | |||||||
chr18:23548335 | A | T | 1 | a0005c0005t0001g0136 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1655-227T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548335 | |||||||
chr18:23548339 | C | CT | 49 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(46): Show |
51 | HG00544.hp1 HG00544.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.1655-232dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548339 | |||||||
chr18:23548339 | C | CTT | 22 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(19): Show |
24 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(21): Show |
intron_variant | MODIFIER | c.1655-233_1655-232d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548339 | |||||||
chr18:23548339 | C | CTTT | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1655-234_1655-232d others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548339 | |||||||
chr18:23548339 | CT | C | 6 | a0002c0002t0001g0043 a0002c0002t0001g0080 a0003c0003t0001g0112 others(3): Show |
6 | HG00323.hp1 HG01106.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1655-232delA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548339 | |||||||
chr18:23548339 | CTT | C | 9 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1655-233_1655-232d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548339 | |||||||
chr18:23548342 | T | C | 1 | a0005c0005t0001g0136 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1655-234A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548342 | |||||||
chr18:23548343 | T | C | 1 | a0005c0005t0001g0136 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1655-235A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548343 | |||||||
chr18:23548378 | T | C | 1 | a0003c0011t0003g0005 | 3 | HG03139.hp1 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1655-270A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548378 | |||||||
chr18:23548859 | C | T | 5 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 others(2): Show |
5 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1655-751G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548859 | |||||||
chr18:23548893 | T | C | 279 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(276): Show |
295 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(292): Show |
intron_variant | MODIFIER | c.1655-785A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23548893 | |||||||
chr18:23549054 | G | A | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1655-946C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549054 | |||||||
chr18:23549552 | T | C | 1 | a0004c0004t0001g0189 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1655-1444A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549552 | |||||||
chr18:23549558 | G | A | 1 | a0004c0004t0001g0225 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1655-1450C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549558 | |||||||
chr18:23549658 | C | CT | 17 | a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0006t0001g0006 others(14): Show |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.1655-1551dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549658 | |||||||
chr18:23549668 | T | G | 1 | a0005c0005t0001g0143 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1655-1560A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549668 | |||||||
chr18:23549670 | T | A | 1 | a0001c0006t0003g0329 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1655-1562A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549670 | |||||||
chr18:23549742 | C | CTTTTTTT others(11): Show |
3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1655-1635_1655-163 others(22): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549742 | |||||||
chr18:23549742 | C | CTTTTTTT others(12): Show |
1 | a0001c0001t0003g0344 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1655-1635_1655-163 others(23): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549742 | |||||||
chr18:23549742 | C | CTTTTTTT others(13): Show |
1 | a0001c0001t0003g0343 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1655-1635_1655-163 others(24): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549742 | |||||||
chr18:23549742 | CT | C | 6 | a0001c0001t0002g0320 a0002c0002t0005g0356 a0004c0004t0001g0166 others(3): Show |
6 | HG02896.hp1 HG02897.hp2 HG04184.hp1 others(3): Show |
intron_variant | MODIFIER | c.1655-1635delA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549742 | |||||||
chr18:23549910 | T | A | 27 | a0001c0001t0001g0113 a0001c0001t0003g0013 a0001c0001t0003g0289 others(24): Show |
29 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1654+1717A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23549910 | |||||||
chr18:23550020 | G | GT | 7 | a0001c0001t0001g0102 a0001c0001t0002g0340 a0002c0002t0005g0357 others(4): Show |
7 | HG02055.hp2 HG02735.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.1654+1606dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550020 | |||||||
chr18:23550020 | GT | G | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1654+1606delA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550020 | |||||||
chr18:23550042 | G | T | 4 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(1): Show |
6 | HG02055.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1654+1585C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550042 | |||||||
chr18:23550200 | C | T | 1 | a0005c0005t0001g0143 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1654+1427G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550200 | |||||||
chr18:23550440 | T | A | 1 | a0005c0005t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1654+1187A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550440 | |||||||
chr18:23550479 | C | CT | 19 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(16): Show |
22 | HG01167.hp1 HG01169.hp1 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.1654+1147dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTT | 14 | a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 others(11): Show |
14 | HG00733.hp2 HG00735.hp2 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.1654+1146_1654+114 others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTCTTTT others(12): Show |
1 | a0007c0008t0001g0008 | 2 | HG03486.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1654+1147_1654+114 others(23): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTCTTTT others(13): Show |
2 | a0007c0008t0001g0095 a0007c0008t0001g0096 |
2 | HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1654+1147_1654+114 others(24): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTCTTTT others(16): Show |
1 | a0001c0001t0001g0097 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1654+1147_1654+114 others(27): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTCTTTT others(18): Show |
1 | a0001c0001t0001g0098 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1654+1147_1654+114 others(29): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(1): Show |
33 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(30): Show |
40 | HG00438.hp2 HG00558.hp1 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1654+1140_1654+114 others(12): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(2): Show |
11 | a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0297 others(8): Show |
11 | HG00423.hp2 HG02602.hp1 HG03927.hp2 others(8): Show |
intron_variant | MODIFIER | c.1654+1139_1654+114 others(13): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(3): Show |
3 | a0001c0001t0003g0343 a0001c0001t0003g0344 a0004c0004t0001g0188 |
3 | HG03098.hp2 HG03540.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.1654+1138_1654+114 others(14): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(4): Show |
3 | a0003c0003t0001g0275 a0003c0003t0001g0276 a0004c0004t0001g0216 |
3 | NA18946.hp2 NA18963.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.1654+1137_1654+114 others(15): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(5): Show |
79 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(76): Show |
82 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(79): Show |
intron_variant | MODIFIER | c.1654+1136_1654+114 others(16): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(6): Show |
39 | a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0001g0092 others(36): Show |
39 | HG00408.hp2 HG00621.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.1654+1135_1654+114 others(17): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(7): Show |
28 | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0046 others(25): Show |
31 | HG00544.hp1 HG01069.hp1 HG01168.hp1 others(28): Show |
intron_variant | MODIFIER | c.1654+1134_1654+114 others(18): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(8): Show |
34 | a0001c0001t0001g0048 a0002c0002t0001g0031 a0002c0002t0001g0036 others(31): Show |
34 | HG00423.hp1 HG00642.hp1 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.1654+1133_1654+114 others(19): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(9): Show |
15 | a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0051 others(12): Show |
15 | HG00408.hp1 HG00558.hp2 HG00621.hp2 others(12): Show |
intron_variant | MODIFIER | c.1654+1132_1654+114 others(20): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(10): Show |
4 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0002c0002t0001g0088 others(1): Show |
4 | HG02630.hp2 HG02896.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1654+1131_1654+114 others(21): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(11): Show |
7 | a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 others(4): Show |
7 | HG02258.hp2 HG02615.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1654+1130_1654+114 others(22): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(12): Show |
3 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 |
3 | HG02109.hp2 HG02486.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.1654+1129_1654+114 others(23): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(14): Show |
1 | a0001c0001t0001g0106 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1654+1147_1654+114 others(25): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(21): Show |
1 | a0001c0012t0003g0349 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1654+1147_1654+114 others(32): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550479 | C | CTTTTTTT others(22): Show |
1 | a0001c0012t0003g0348 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1654+1147_1654+114 others(33): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550479 | |||||||
chr18:23550513 | A | G | 135 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(132): Show |
140 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.1654+1114T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550513 | |||||||
chr18:23550573 | C | T | 3 | a0001c0028t0003g0345 a0009c0015t0003g0346 a0009c0015t0003g0347 |
3 | HG01109.hp1 HG02647.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.1654+1054G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550573 | |||||||
chr18:23550594 | G | A | 7 | a0003c0003t0001g0021 a0003c0003t0001g0259 a0003c0003t0001g0263 others(4): Show |
7 | HG00323.hp2 HG01069.hp2 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.1654+1033C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550594 | |||||||
chr18:23550670 | C | T | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.1654+957G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550670 | |||||||
chr18:23550732 | C | G | 1 | a0002c0002t0001g0044 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1654+895G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550732 | |||||||
chr18:23550876 | C | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1654+751G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23550876 | |||||||
chr18:23551030 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1654+597G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551030 | |||||||
chr18:23551228 | C | T | 1 | a0004c0004t0001g0272 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1654+399G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551228 | |||||||
chr18:23551316 | G | A | 7 | a0002c0002t0001g0077 a0003c0003t0001g0245 a0006c0007t0001g0170 others(4): Show |
7 | HG01081.hp1 HG02451.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1654+311C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551316 | |||||||
chr18:23551377 | G | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1654+250C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551377 | |||||||
chr18:23551413 | T | C | 1 | a0004c0004t0001g0198 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1654+214A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551413 | |||||||
chr18:23551569 | A | G | 9 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0288 others(6): Show |
10 | HG02145.hp2 HG02559.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.1654+58T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | 23551569 | |||||||
chr18:23551913 | A | C | 6 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 others(3): Show |
6 | HG02451.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1554-186T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23551913 | |||||||
chr18:23551925 | A | G | 1 | a0005c0005t0001g0163 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1554-198T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23551925 | |||||||
chr18:23551965 | T | C | 284 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(281): Show |
300 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(297): Show |
intron_variant | MODIFIER | c.1554-238A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23551965 | |||||||
chr18:23552183 | G | A | 18 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(15): Show |
19 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1554-456C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552183 | |||||||
chr18:23552197 | G | A | 26 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(23): Show |
28 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1554-470C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552197 | |||||||
chr18:23552291 | TA | T | 8 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(5): Show |
10 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.1554-565delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552291 | |||||||
chr18:23552344 | G | C | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1554-617C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552344 | |||||||
chr18:23552398 | A | C | 1 | a0001c0006t0003g0342 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1554-671T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552398 | |||||||
chr18:23552408 | G | A | 85 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(82): Show |
88 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.1554-681C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552408 | |||||||
chr18:23552486 | C | T | 5 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(2): Show |
5 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.1554-759G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552486 | |||||||
chr18:23552598 | C | T | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.1554-871G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552598 | |||||||
chr18:23552604 | G | C | 1 | a0003c0011t0003g0005 | 3 | HG03139.hp1 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1554-877C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552604 | |||||||
chr18:23552607 | G | C | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.1554-880C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552607 | |||||||
chr18:23552676 | C | T | 1 | a0003c0029t0003g0351 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1554-949G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552676 | |||||||
chr18:23552677 | G | A | 1 | a0004c0004t0001g0199 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1554-950C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552677 | |||||||
chr18:23552746 | G | C | 1 | a0001c0017t0002g0338 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1554-1019C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552746 | |||||||
chr18:23552748 | T | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1554-1021A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552748 | |||||||
chr18:23552784 | C | G | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1554-1057G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552784 | |||||||
chr18:23552867 | C | T | 1 | a0002c0002t0001g0088 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.1554-1140G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552867 | |||||||
chr18:23552951 | A | C | 3 | a0002c0002t0001g0036 a0002c0002t0001g0056 a0002c0002t0001g0057 |
3 | NA18944.hp1 NA18969.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1554-1224T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552951 | |||||||
chr18:23552976 | C | T | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1554-1249G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23552976 | |||||||
chr18:23553114 | C | T | 1 | a0001c0001t0002g0340 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1554-1387G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553114 | |||||||
chr18:23553120 | A | G | 279 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(276): Show |
295 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(292): Show |
intron_variant | MODIFIER | c.1554-1393T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553120 | |||||||
chr18:23553209 | C | T | 1 | a0001c0001t0001g0104 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1554-1482G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553209 | |||||||
chr18:23553220 | T | G | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1554-1493A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553220 | |||||||
chr18:23553561 | T | C | 4 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(1): Show |
6 | HG02055.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1553+1197A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553561 | |||||||
chr18:23553565 | C | T | 1 | a0001c0006t0003g0329 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1553+1193G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553565 | |||||||
chr18:23553689 | G | T | 1 | a0002c0002t0001g0040 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1553+1069C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553689 | |||||||
chr18:23553770 | C | T | 1 | a0005c0005t0001g0138 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1553+988G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553770 | |||||||
chr18:23553801 | A | G | 1 | a0001c0001t0002g0323 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1553+957T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553801 | |||||||
chr18:23553837 | A | C | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.1553+921T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553837 | |||||||
chr18:23553842 | C | CT | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1553+915dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553842 | |||||||
chr18:23553900 | C | T | 1 | a0005c0005t0001g0125 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1553+858G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553900 | |||||||
chr18:23553973 | G | A | 128 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(125): Show |
131 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.1553+785C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23553973 | |||||||
chr18:23554090 | C | T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1553+668G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554090 | |||||||
chr18:23554126 | G | A | 4 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(1): Show |
6 | HG02055.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1553+632C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554126 | |||||||
chr18:23554275 | C | T | 279 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(276): Show |
295 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(292): Show |
intron_variant | MODIFIER | c.1553+483G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554275 | |||||||
chr18:23554380 | C | T | 1 | a0003c0003t0001g0205 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1553+378G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554380 | |||||||
chr18:23554431 | C | T | 4 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(1): Show |
4 | HG02486.hp1 HG02559.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1553+327G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554431 | |||||||
chr18:23554521 | G | A | 1 | a0003c0003t0001g0014 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1553+237C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554521 | |||||||
chr18:23554605 | CA | C | 226 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(223): Show |
235 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(232): Show |
intron_variant | MODIFIER | c.1553+152delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554605 | |||||||
chr18:23554605 | CAA | C | 48 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(45): Show |
55 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.1553+151_1553+152d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 9/24 | chr18 | 23554605 | |||||||
chr18:23555116 | G | A | 1 | a0001c0001t0002g0340 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1327-132C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555116 | |||||||
chr18:23555183 | T | C | 1 | a0001c0014t0003g0353 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1327-199A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555183 | |||||||
chr18:23555204 | C | T | 1 | a0005c0005t0001g0119 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1327-220G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555204 | |||||||
chr18:23555394 | A | G | 7 | a0004c0004t0001g0177 a0004c0004t0001g0201 a0004c0004t0001g0213 others(4): Show |
7 | NA18946.hp2 NA18950.hp2 NA18970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1327-410T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555394 | |||||||
chr18:23555564 | T | C | 6 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(3): Show |
8 | HG01109.hp1 HG02055.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.1327-580A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555564 | |||||||
chr18:23555591 | T | G | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.1327-607A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555591 | |||||||
chr18:23555652 | G | A | 1 | a0006c0007t0001g0170 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1326+591C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555652 | |||||||
chr18:23555764 | CAGTG | C | 6 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(3): Show |
8 | HG01109.hp1 HG02055.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.1326+475_1326+478d others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555764 | |||||||
chr18:23555984 | C | T | 1 | a0001c0006t0003g0342 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1326+259G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23555984 | |||||||
chr18:23556064 | TCAA | T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1326+176_1326+178d others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23556064 | |||||||
chr18:23556111 | ATT | A | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1326+130_1326+131d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23556111 | |||||||
chr18:23556171 | G | A | 9 | a0001c0001t0002g0003 a0001c0001t0002g0291 a0001c0001t0002g0292 others(6): Show |
11 | HG00673.hp1 HG02132.hp1 HG02135.hp2 others(8): Show |
intron_variant | MODIFIER | c.1326+72C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 8/24 | chr18 | 23556171 | |||||||
chr18:23556674 | G | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.956-61C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 7/24 | chr18 | 23556674 | |||||||
chr18:23556994 | G | A | 1 | a0004c0004t0001g0226 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.955+123C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 7/24 | chr18 | 23556994 | |||||||
chr18:23557333 | C | T | 6 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0003c0011t0003g0005 others(3): Show |
8 | HG01109.hp1 HG02055.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.882-143G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557333 | |||||||
chr18:23557478 | A | G | 311 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(308): Show |
329 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(326): Show |
intron_variant | MODIFIER | c.882-288T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557478 | |||||||
chr18:23557481 | C | T | 1 | a0005c0005t0001g0150 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.882-291G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557481 | |||||||
chr18:23557571 | A | G | 1 | a0004c0004t0001g0244 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.882-381T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557571 | |||||||
chr18:23557699 | G | A | 13 | a0001c0001t0001g0113 a0001c0001t0003g0013 a0001c0001t0003g0289 others(10): Show |
14 | HG01167.hp1 HG01169.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.882-509C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557699 | |||||||
chr18:23557744 | AAAAC | A | 25 | a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0006t0001g0006 others(22): Show |
28 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.882-558_882-555del others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23557744 | |||||||
chr18:23558176 | T | C | 8 | a0002c0002t0001g0031 a0002c0002t0001g0045 a0002c0002t0001g0047 others(5): Show |
8 | HG00558.hp2 HG00621.hp2 HG02027.hp1 others(5): Show |
intron_variant | MODIFIER | c.882-986A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558176 | |||||||
chr18:23558234 | T | C | 17 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(14): Show |
19 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.882-1044A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558234 | |||||||
chr18:23558572 | A | G | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.882-1382T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558572 | |||||||
chr18:23558717 | G | GTT | 14 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(11): Show |
16 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.881+1512_881+1513d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558717 | |||||||
chr18:23558736 | T | C | 1 | a0004c0004t0001g0209 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.881+1495A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558736 | |||||||
chr18:23558862 | T | A | 1 | a0001c0001t0003g0350 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.881+1369A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558862 | |||||||
chr18:23558872 | A | AG | 35 | a0001c0001t0002g0297 a0001c0001t0002g0316 a0001c0001t0003g0327 others(32): Show |
35 | HG00423.hp2 HG00735.hp1 HG00735.hp2 others(32): Show |
intron_variant | MODIFIER | c.881+1358dupC | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558872 | |||||||
chr18:23558897 | G | A | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.881+1334C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558897 | |||||||
chr18:23558901 | T | C | 305 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(302): Show |
323 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(320): Show |
intron_variant | MODIFIER | c.881+1330A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558901 | |||||||
chr18:23558967 | G | A | 2 | a0002c0002t0001g0092 a0002c0002t0001g0093 |
2 | NA19010.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.881+1264C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558967 | |||||||
chr18:23558974 | T | C | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.881+1257A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558974 | |||||||
chr18:23558991 | C | T | 1 | a0005c0005t0007g0149 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.881+1240G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558991 | |||||||
chr18:23558997 | T | G | 1 | a0001c0001t0001g0108 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.881+1234A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23558997 | |||||||
chr18:23559154 | G | A | 15 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(12): Show |
16 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.881+1077C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559154 | |||||||
chr18:23559184 | C | T | 17 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(14): Show |
19 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.881+1047G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559184 | |||||||
chr18:23559251 | C | A | 15 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(12): Show |
16 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.881+980G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559251 | |||||||
chr18:23559310 | G | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.881+921C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559310 | |||||||
chr18:23559333 | C | T | 1 | a0003c0003t0001g0250 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.881+898G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559333 | |||||||
chr18:23559492 | C | CT | 76 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 others(73): Show |
81 | HG00544.hp2 HG00621.hp1 HG00621.hp2 others(78): Show |
intron_variant | MODIFIER | c.881+738dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559492 | |||||||
chr18:23559492 | C | CTT | 17 | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0113 others(14): Show |
17 | HG00738.hp2 HG01433.hp2 HG01884.hp2 others(14): Show |
intron_variant | MODIFIER | c.881+737_881+738dup others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559492 | |||||||
chr18:23559492 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0002g0291 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.881+729_881+738del others(10): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559492 | |||||||
chr18:23559668 | G | A | 1 | a0002c0002t0001g0060 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.881+563C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559668 | |||||||
chr18:23559739 | C | T | 1 | a0001c0016t0008g0312 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.881+492G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559739 | |||||||
chr18:23559767 | C | T | 2 | a0001c0001t0001g0097 a0001c0001t0001g0098 |
2 | HG02559.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.881+464G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559767 | |||||||
chr18:23559861 | T | G | 17 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(14): Show |
19 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.881+370A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559861 | |||||||
chr18:23559888 | G | A | 1 | a0003c0003t0001g0208 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.881+343C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559888 | |||||||
chr18:23559959 | C | CAA | 11 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(8): Show |
11 | HG01109.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.881+270_881+271dup others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23559959 | |||||||
chr18:23560149 | C | T | 1 | a0002c0002t0001g0044 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.881+82G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23560149 | |||||||
chr18:23560152 | A | T | 1 | a0019c0030t0002g0314 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.881+79T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 6/24 | chr18 | 23560152 | |||||||
chr18:23560546 | T | G | 1 | a0019c0030t0002g0314 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.632-66A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23560546 | |||||||
chr18:23560666 | C | T | 1 | a0003c0003t0001g0247 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.632-186G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23560666 | |||||||
chr18:23560679 | C | T | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.632-199G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23560679 | |||||||
chr18:23560808 | C | G | 1 | a0005c0005t0001g0144 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.632-328G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23560808 | |||||||
chr18:23560867 | C | G | 17 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(14): Show |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.632-387G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23560867 | |||||||
chr18:23561341 | T | C | 1 | a0001c0001t0003g0333 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.631+19A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 5/24 | chr18 | 23561341 | |||||||
chr18:23561544 | A | C | 1 | a0002c0002t0001g0063 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.464-17T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561544 | |||||||
chr18:23561637 | T | C | 1 | a0002c0002t0001g0058 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.464-110A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561637 | |||||||
chr18:23561780 | G | A | 1 | a0004c0004t0001g0244 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.464-253C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561780 | |||||||
chr18:23561789 | T | C | 1 | a0004c0004t0001g0226 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.464-262A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561789 | |||||||
chr18:23561943 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.464-416A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561943 | |||||||
chr18:23561969 | T | A | 3 | a0002c0002t0001g0002 a0002c0002t0001g0185 a0002c0002t0001g0283 |
5 | NA18941.hp1 NA19056.hp1 NA19068.hp2 others(2): Show |
intron_variant | MODIFIER | c.464-442A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23561969 | |||||||
chr18:23562056 | G | A | 75 | a0001c0001t0001g0048 a0001c0001t0002g0313 a0002c0002t0001g0002 others(72): Show |
78 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.464-529C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562056 | |||||||
chr18:23562162 | G | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.464-635C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562162 | |||||||
chr18:23562182 | G | A | 1 | a0006c0007t0001g0243 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.464-655C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562182 | |||||||
chr18:23562296 | C | CA | 22 | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 others(19): Show |
22 | HG02015.hp2 HG02040.hp1 HG02486.hp1 others(19): Show |
intron_variant | MODIFIER | c.464-770dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562296 | |||||||
chr18:23562296 | CA | C | 154 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(151): Show |
167 | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(164): Show |
intron_variant | MODIFIER | c.464-770delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562296 | |||||||
chr18:23562299 | A | AAAAAAAA others(3): Show |
1 | a0003c0029t0003g0351 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.464-782_464-773dup others(10): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562299 | |||||||
chr18:23562308 | A | C | 3 | a0001c0001t0002g0001 a0001c0001t0002g0317 a0002c0002t0001g0083 |
6 | HG02056.hp2 HG02074.hp1 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.464-781T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562308 | |||||||
chr18:23562309 | C | A | 2 | a0002c0002t0001g0083 a0019c0030t0002g0314 |
2 | HG02056.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.464-782G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562309 | |||||||
chr18:23562317 | A | C | 1 | a0005c0005t0001g0138 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.464-790T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562317 | |||||||
chr18:23562318 | C | A | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.464-791G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562318 | |||||||
chr18:23562376 | T | C | 309 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(306): Show |
327 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(324): Show |
intron_variant | MODIFIER | c.464-849A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562376 | |||||||
chr18:23562445 | T | G | 1 | a0004c0004t0001g0244 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.464-918A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562445 | |||||||
chr18:23562474 | C | G | 129 | a0001c0001t0002g0302 a0002c0002t0004g0232 a0003c0003t0001g0011 others(126): Show |
132 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.464-947G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562474 | |||||||
chr18:23562579 | G | A | 10 | a0001c0001t0001g0113 a0001c0001t0003g0013 a0001c0001t0003g0289 others(7): Show |
11 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.464-1052C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562579 | |||||||
chr18:23562770 | A | T | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.464-1243T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562770 | |||||||
chr18:23562774 | C | T | 1 | a0004c0004t0001g0202 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.464-1247G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562774 | |||||||
chr18:23562826 | A | C | 9 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.464-1299T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562826 | |||||||
chr18:23562890 | C | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.464-1363G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562890 | |||||||
chr18:23562980 | T | C | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.464-1453A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23562980 | |||||||
chr18:23563028 | A | T | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.464-1501T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563028 | |||||||
chr18:23563113 | C | T | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.464-1586G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563113 | |||||||
chr18:23563219 | C | T | 276 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(273): Show |
292 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(289): Show |
intron_variant | MODIFIER | c.464-1692G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563219 | |||||||
chr18:23563249 | A | G | 6 | a0003c0003t0001g0245 a0006c0007t0001g0170 a0006c0007t0001g0243 others(3): Show |
6 | HG02451.hp2 HG02809.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.464-1722T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563249 | |||||||
chr18:23563333 | T | C | 1 | a0002c0025t0001g0111 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.464-1806A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563333 | |||||||
chr18:23563351 | T | C | 1 | a0001c0001t0002g0315 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.464-1824A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563351 | |||||||
chr18:23563418 | G | A | 4 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(1): Show |
4 | HG01884.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.464-1891C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563418 | |||||||
chr18:23563533 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.464-2006G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563533 | |||||||
chr18:23563539 | A | G | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.464-2012T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563539 | |||||||
chr18:23563676 | A | G | 2 | a0002c0002t0006g0090 a0002c0002t0006g0091 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.464-2149T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563676 | |||||||
chr18:23563682 | G | A | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.464-2155C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563682 | |||||||
chr18:23563752 | T | C | 6 | a0002c0002t0001g0007 a0002c0002t0001g0036 a0002c0002t0001g0056 others(3): Show |
7 | HG00544.hp1 NA18944.hp1 NA18969.hp1 others(4): Show |
intron_variant | MODIFIER | c.464-2225A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563752 | |||||||
chr18:23563775 | T | G | 258 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(255): Show |
272 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(269): Show |
intron_variant | MODIFIER | c.464-2248A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563775 | |||||||
chr18:23563876 | T | C | 1 | a0005c0005t0001g0137 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.464-2349A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563876 | |||||||
chr18:23563879 | C | T | 2 | a0004c0004t0001g0201 a0004c0004t0001g0246 |
2 | NA18950.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.464-2352G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563879 | |||||||
chr18:23563903 | A | G | 1 | a0001c0001t0001g0102 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.464-2376T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563903 | |||||||
chr18:23563914 | A | G | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.464-2387T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563914 | |||||||
chr18:23563968 | T | C | 129 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(126): Show |
132 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.464-2441A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563968 | |||||||
chr18:23563985 | G | GTTT | 3 | a0004c0004t0001g0186 a0004c0004t0001g0239 a0004c0004t0001g0267 |
3 | NA18957.hp2 NA18966.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.464-2459_464-2458i others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563985 | |||||||
chr18:23563986 | A | AGTTT | 10 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(7): Show |
10 | HG02109.hp2 HG02486.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.464-2463_464-2460d others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563986 | |||||||
chr18:23563986 | A | T | 4 | a0004c0004t0001g0186 a0004c0004t0001g0239 a0004c0004t0001g0240 others(1): Show |
4 | NA18957.hp2 NA18966.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.464-2459T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563986 | |||||||
chr18:23563987 | G | GTTTT | 100 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0295 others(97): Show |
108 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(105): Show |
intron_variant | MODIFIER | c.464-2464_464-2461d others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563987 | |||||||
chr18:23563987 | G | GTTTTT | 150 | a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0114 others(147): Show |
156 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(153): Show |
intron_variant | MODIFIER | c.464-2465_464-2461d others(7): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563987 | |||||||
chr18:23563987 | G | GTTTTTT | 29 | a0001c0001t0001g0097 a0001c0001t0002g0292 a0001c0001t0003g0350 others(26): Show |
30 | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.464-2466_464-2461d others(8): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563987 | |||||||
chr18:23563987 | G | T | 4 | a0004c0004t0001g0186 a0004c0004t0001g0239 a0004c0004t0001g0240 others(1): Show |
4 | NA18957.hp2 NA18966.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.464-2460C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23563987 | |||||||
chr18:23564031 | C | G | 1 | a0002c0002t0004g0082 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.464-2504G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564031 | |||||||
chr18:23564129 | C | T | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.464-2602G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564129 | |||||||
chr18:23564159 | AT | A | 74 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(71): Show |
77 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(74): Show |
intron_variant | MODIFIER | c.464-2633delA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564159 | |||||||
chr18:23564296 | T | A | 9 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.464-2769A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564296 | |||||||
chr18:23564352 | C | CT | 7 | a0001c0001t0003g0350 a0001c0006t0001g0022 a0001c0006t0001g0023 others(4): Show |
7 | HG01433.hp2 HG02040.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.464-2826dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564352 | |||||||
chr18:23564645 | T | C | 1 | a0016c0026t0001g0055 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.464-3118A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564645 | |||||||
chr18:23564972 | A | C | 3 | a0005c0005t0001g0144 a0005c0005t0001g0145 a0005c0005t0012g0358 |
3 | HG01074.hp1 HG01123.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.464-3445T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23564972 | |||||||
chr18:23565059 | A | C | 1 | a0004c0004t0001g0193 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.464-3532T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565059 | |||||||
chr18:23565111 | C | CT | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.464-3585dupA | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565111 | |||||||
chr18:23565240 | T | C | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.463+3583A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565240 | |||||||
chr18:23565380 | G | A | 2 | a0001c0001t0003g0327 a0001c0001t0003g0328 |
2 | HG03098.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.463+3443C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565380 | |||||||
chr18:23565432 | T | C | 1 | a0001c0014t0003g0353 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.463+3391A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565432 | |||||||
chr18:23565442 | G | A | 2 | a0002c0002t0001g0079 a0002c0002t0001g0080 |
2 | HG00423.hp1 NA18957.hp1 |
intron_variant | MODIFIER | c.463+3381C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565442 | |||||||
chr18:23565513 | G | A | 10 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(7): Show |
10 | HG02109.hp2 HG02257.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.463+3310C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565513 | |||||||
chr18:23565607 | G | C | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.463+3216C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565607 | |||||||
chr18:23565657 | C | CTTTAGT | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.463+3165_463+3166i others(8): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565657 | |||||||
chr18:23565660 | T | C | 1 | a0004c0004t0001g0189 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.463+3163A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565660 | |||||||
chr18:23565853 | GATT | G | 6 | a0005c0005t0001g0138 a0005c0005t0001g0139 a0005c0005t0001g0140 others(3): Show |
6 | HG00735.hp1 HG01361.hp2 HG01515.hp2 others(3): Show |
intron_variant | MODIFIER | c.463+2967_463+2969d others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565853 | |||||||
chr18:23565893 | G | GTTATC | 18 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(15): Show |
20 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.463+2929_463+2930i others(7): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565893 | |||||||
chr18:23565932 | T | C | 1 | a0005c0005t0001g0141 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.463+2891A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23565932 | |||||||
chr18:23566121 | C | T | 205 | a0001c0001t0001g0048 a0001c0001t0002g0301 a0001c0006t0003g0342 others(202): Show |
211 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(208): Show |
intron_variant | MODIFIER | c.463+2702G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566121 | |||||||
chr18:23566237 | T | A | 3 | a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0004g0101 |
3 | HG02451.hp1 HG02615.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.463+2586A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566237 | |||||||
chr18:23566423 | G | A | 7 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(4): Show |
9 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.463+2400C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566423 | |||||||
chr18:23566532 | G | A | 4 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(1): Show |
4 | HG01884.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.463+2291C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566532 | |||||||
chr18:23566588 | T | TAAA | 293 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(290): Show |
310 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(307): Show |
intron_variant | MODIFIER | c.463+2232_463+2234d others(5): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566588 | |||||||
chr18:23566588 | TA | T | 17 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(14): Show |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.463+2234delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566588 | |||||||
chr18:23566597 | T | TAC | 4 | a0001c0001t0002g0316 a0001c0001t0002g0322 a0003c0003t0001g0238 others(1): Show |
4 | HG02135.hp1 HG03688.hp2 NA18943.hp1 others(1): Show |
intron_variant | MODIFIER | c.463+2224_463+2225d others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566597 | |||||||
chr18:23566685 | C | A | 16 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show |
18 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.463+2138G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566685 | |||||||
chr18:23566708 | C | T | 2 | a0005c0013t0001g0127 a0005c0013t0001g0128 |
2 | HG00642.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.463+2115G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566708 | |||||||
chr18:23566786 | T | C | 1 | a0001c0006t0001g0006 | 2 | HG00544.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.463+2037A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566786 | |||||||
chr18:23566818 | A | C | 2 | a0004c0004t0001g0191 a0004c0004t0007g0192 |
2 | NA18968.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.463+2005T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566818 | |||||||
chr18:23566955 | G | A | 4 | a0004c0004t0001g0186 a0004c0004t0001g0239 a0004c0004t0001g0240 others(1): Show |
4 | NA18957.hp2 NA18966.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.463+1868C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23566955 | |||||||
chr18:23567116 | C | T | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.463+1707G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567116 | |||||||
chr18:23567285 | C | T | 16 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show |
18 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.463+1538G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567285 | |||||||
chr18:23567308 | A | C | 28 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(25): Show |
31 | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(28): Show |
intron_variant | MODIFIER | c.463+1515T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567308 | |||||||
chr18:23567408 | T | G | 1 | a0004c0004t0001g0188 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.463+1415A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567408 | |||||||
chr18:23567462 | T | G | 1 | a0016c0026t0001g0055 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.463+1361A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567462 | |||||||
chr18:23567545 | C | T | 279 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(276): Show |
295 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(292): Show |
intron_variant | MODIFIER | c.463+1278G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567545 | |||||||
chr18:23567568 | C | T | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.463+1255G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567568 | |||||||
chr18:23567612 | T | G | 1 | a0002c0002t0001g0044 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.463+1211A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567612 | |||||||
chr18:23567617 | A | G | 1 | a0001c0001t0003g0331 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.463+1206T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567617 | |||||||
chr18:23567637 | G | C | 2 | a0002c0002t0001g0092 a0002c0002t0001g0093 |
2 | NA19010.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.463+1186C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567637 | |||||||
chr18:23567776 | G | A | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.463+1047C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567776 | |||||||
chr18:23567780 | G | A | 1 | a0001c0017t0002g0339 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.463+1043C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567780 | |||||||
chr18:23567909 | G | A | 1 | a0001c0010t0001g0033 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.463+914C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567909 | |||||||
chr18:23567925 | C | T | 10 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(7): Show |
10 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.463+898G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567925 | |||||||
chr18:23567946 | G | A | 3 | a0005c0005t0001g0009 a0005c0005t0001g0156 a0005c0005t0001g0157 |
4 | HG01884.hp1 HG01891.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.463+877C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23567946 | |||||||
chr18:23568268 | T | TC | 16 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show |
18 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.463+554dupG | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568268 | |||||||
chr18:23568313 | T | C | 1 | a0005c0005t0001g0143 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.463+510A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568313 | |||||||
chr18:23568498 | C | T | 1 | a0003c0003t0001g0245 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.463+325G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568498 | |||||||
chr18:23568503 | A | T | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.463+320T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568503 | |||||||
chr18:23568693 | A | T | 1 | a0001c0006t0003g0329 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.463+130T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568693 | |||||||
chr18:23568723 | A | G | 1 | a0004c0004t0001g0244 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.463+100T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568723 | |||||||
chr18:23568740 | G | A | 2 | a0008c0009t0001g0084 a0008c0009t0001g0085 |
2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.463+83C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568740 | |||||||
chr18:23568790 | C | T | 1 | a0002c0002t0001g0038 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.463+33G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568790 | |||||||
chr18:23568804 | T | C | 1 | a0005c0005t0001g0158 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.463+19A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 4/24 | chr18 | 23568804 | |||||||
chr18:23569325 | AATT | A | 6 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(3): Show |
6 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-330_288-328del others(3): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23569325 | |||||||
chr18:23569761 | A | G | 5 | a0001c0014t0003g0352 a0001c0014t0003g0353 a0001c0028t0003g0345 others(2): Show |
5 | HG01109.hp1 HG02055.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.288-763T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23569761 | |||||||
chr18:23569839 | G | T | 9 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.288-841C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23569839 | |||||||
chr18:23569870 | A | G | 9 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(6): Show |
9 | HG02109.hp2 HG02257.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.288-872T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23569870 | |||||||
chr18:23570048 | C | G | 1 | a0006c0007t0001g0243 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.288-1050G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570048 | |||||||
chr18:23570065 | A | T | 1 | a0001c0006t0001g0019 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.288-1067T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570065 | |||||||
chr18:23570277 | T | C | 6 | a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 others(3): Show |
6 | HG02257.hp1 HG02486.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.288-1279A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570277 | |||||||
chr18:23570307 | G | A | 1 | a0002c0002t0005g0357 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.288-1309C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570307 | |||||||
chr18:23570337 | T | C | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.288-1339A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570337 | |||||||
chr18:23570444 | T | C | 2 | a0001c0010t0001g0032 a0001c0010t0001g0033 |
2 | HG02258.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.288-1446A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570444 | |||||||
chr18:23570817 | T | C | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.287+1257A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570817 | |||||||
chr18:23570885 | G | A | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.287+1189C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23570885 | |||||||
chr18:23571231 | TTAAAAAA others(14): Show |
T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.287+822_287+842del others(21): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571231 | |||||||
chr18:23571232 | TA | T | 301 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(298): Show |
318 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(315): Show |
intron_variant | MODIFIER | c.287+841delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571232 | |||||||
chr18:23571234 | A | T | 1 | a0002c0002t0001g0061 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.287+840T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571234 | |||||||
chr18:23571245 | A | C | 1 | a0002c0002t0005g0356 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.287+829T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571245 | |||||||
chr18:23571427 | C | T | 17 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(14): Show |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.287+647G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571427 | |||||||
chr18:23571472 | C | G | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.287+602G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571472 | |||||||
chr18:23571638 | A | G | 16 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show |
18 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.287+436T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571638 | |||||||
chr18:23571653 | CA | C | 27 | a0001c0001t0001g0113 a0001c0001t0003g0013 a0001c0001t0003g0289 others(24): Show |
29 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.287+420delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571653 | |||||||
chr18:23571653 | CAA | C | 274 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(271): Show |
288 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(285): Show |
intron_variant | MODIFIER | c.287+419_287+420del others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571653 | |||||||
chr18:23571653 | CAAA | C | 5 | a0001c0014t0003g0352 a0002c0002t0001g0061 a0003c0011t0003g0005 others(2): Show |
7 | HG03139.hp1 HG03139.hp2 HG03471.hp2 others(4): Show |
intron_variant | MODIFIER | c.287+418_287+420del others(3): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571653 | |||||||
chr18:23571716 | G | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.287+358C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571716 | |||||||
chr18:23571727 | T | C | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.287+347A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/24 | chr18 | 23571727 | |||||||
chr18:23572196 | G | A | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.181-16C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572196 | |||||||
chr18:23572268 | T | C | 1 | a0004c0004t0001g0242 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.181-88A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572268 | |||||||
chr18:23572444 | GTTTT | G | 72 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(69): Show |
75 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.181-268_181-265del others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572444 | |||||||
chr18:23572470 | A | G | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.181-290T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572470 | |||||||
chr18:23572651 | TGG | T | 128 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(125): Show |
131 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.181-473_181-472del others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572651 | |||||||
chr18:23572669 | C | CCAAA | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.181-493_181-490dup others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572669 | |||||||
chr18:23572687 | A | T | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.181-507T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572687 | |||||||
chr18:23572712 | T | C | 1 | a0004c0004t0001g0272 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.181-532A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572712 | |||||||
chr18:23572943 | G | C | 52 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(49): Show |
55 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.180+509C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572943 | |||||||
chr18:23572983 | T | TA | 5 | a0001c0001t0001g0102 a0001c0014t0003g0352 a0001c0014t0003g0353 others(2): Show |
7 | HG02055.hp1 HG02896.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.180+468dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23572983 | |||||||
chr18:23573042 | AAC | A | 3 | a0005c0005t0001g0144 a0005c0005t0001g0145 a0005c0005t0012g0358 |
3 | HG01074.hp1 HG01123.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.180+408_180+409del others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23573042 | |||||||
chr18:23573305 | C | T | 2 | a0009c0015t0003g0346 a0009c0015t0003g0347 |
2 | HG01109.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.180+147G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 2/24 | chr18 | 23573305 | |||||||
chr18:23573685 | T | C | 1 | a0004c0004t0001g0267 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.58-111A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23573685 | |||||||
chr18:23573847 | G | A | 1 | a0016c0026t0001g0055 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.58-273C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23573847 | |||||||
chr18:23573851 | TACTC | T | 47 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(44): Show |
54 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.58-281_58-278delGA others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23573851 | |||||||
chr18:23573864 | T | C | 1 | a0003c0029t0003g0351 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.58-290A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23573864 | |||||||
chr18:23573978 | G | T | 72 | a0001c0001t0001g0048 a0002c0002t0001g0002 a0002c0002t0001g0007 others(69): Show |
75 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.58-404C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23573978 | |||||||
chr18:23574060 | G | A | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.58-486C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574060 | |||||||
chr18:23574178 | C | G | 1 | a0005c0005t0001g0126 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.58-604G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574178 | |||||||
chr18:23574180 | A | G | 1 | a0005c0005t0001g0122 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.58-606T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574180 | |||||||
chr18:23574348 | C | A | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.58-774G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574348 | |||||||
chr18:23574445 | T | TA | 8 | a0001c0001t0002g0325 a0001c0010t0001g0032 a0001c0010t0001g0033 others(5): Show |
10 | HG02055.hp1 HG02258.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.58-872dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574445 | |||||||
chr18:23574453 | A | G | 1 | a0005c0005t0001g0147 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.58-879T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574453 | |||||||
chr18:23574455 | AC | A | 3 | a0001c0001t0003g0344 a0009c0015t0003g0346 a0009c0015t0003g0347 |
3 | HG01109.hp1 HG03098.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.58-882delG | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574455 | |||||||
chr18:23574456 | C | A | 9 | a0001c0001t0003g0343 a0001c0010t0001g0032 a0001c0010t0001g0033 others(6): Show |
11 | HG02055.hp1 HG02258.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.58-882G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574456 | |||||||
chr18:23574491 | C | T | 3 | a0002c0002t0001g0036 a0002c0002t0001g0056 a0002c0002t0001g0057 |
3 | NA18944.hp1 NA18969.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.58-917G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574491 | |||||||
chr18:23574607 | A | T | 3 | a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 |
3 | HG00673.hp1 NA18988.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.58-1033T>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574607 | |||||||
chr18:23574703 | A | G | 1 | a0001c0001t0002g0323 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.58-1129T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574703 | |||||||
chr18:23574740 | T | C | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.58-1166A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574740 | |||||||
chr18:23574830 | C | T | 1 | a0008c0009t0001g0035 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.58-1256G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574830 | |||||||
chr18:23574867 | T | G | 1 | a0005c0005t0001g0146 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.58-1293A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574867 | |||||||
chr18:23574879 | C | T | 4 | a0002c0002t0005g0354 a0002c0002t0005g0355 a0002c0002t0005g0356 others(1): Show |
4 | HG02055.hp2 HG02897.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.58-1305G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574879 | |||||||
chr18:23574906 | A | G | 1 | a0004c0004t0001g0177 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.58-1332T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23574906 | |||||||
chr18:23575195 | G | A | 1 | a0001c0014t0003g0352 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.58-1621C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575195 | |||||||
chr18:23575252 | A | G | 1 | a0002c0002t0001g0088 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.58-1678T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575252 | |||||||
chr18:23575344 | G | A | 1 | a0002c0002t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.58-1770C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575344 | |||||||
chr18:23575360 | G | A | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.58-1786C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575360 | |||||||
chr18:23575383 | G | A | 1 | a0001c0001t0002g0326 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.58-1809C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575383 | |||||||
chr18:23575527 | G | C | 12 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(9): Show |
12 | HG01109.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.58-1953C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575527 | |||||||
chr18:23575769 | C | CA | 71 | a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 others(68): Show |
71 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(68): Show |
intron_variant | MODIFIER | c.58-2196dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAA | 6 | a0001c0001t0003g0350 a0003c0003t0001g0269 a0004c0004t0001g0012 others(3): Show |
7 | HG01168.hp2 HG01169.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.58-2197_58-2196dup others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAAAAAA | 9 | a0001c0006t0001g0017 a0001c0006t0001g0019 a0001c0006t0001g0020 others(6): Show |
9 | HG00733.hp2 HG00735.hp2 HG00738.hp2 others(6): Show |
intron_variant | MODIFIER | c.58-2201_58-2196dup others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAAAAAAA others(3): Show |
2 | a0001c0001t0003g0289 a0001c0001t0003g0330 |
2 | HG01169.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.58-2205_58-2196dup others(10): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAAAAAAA others(4): Show |
4 | a0001c0001t0003g0013 a0001c0001t0003g0294 a0001c0001t0003g0331 others(1): Show |
5 | HG01167.hp1 HG02486.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.58-2206_58-2196dup others(11): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAAAAAAA others(5): Show |
3 | a0001c0001t0003g0327 a0001c0001t0003g0333 a0001c0006t0003g0342 |
3 | HG02630.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.58-2207_58-2196dup others(12): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | C | CAAAAAAA others(6): Show |
1 | a0001c0001t0003g0328 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.58-2208_58-2196dup others(13): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | CA | C | 51 | a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0001g0103 others(48): Show |
54 | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(51): Show |
intron_variant | MODIFIER | c.58-2196delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575769 | CAAAAAAA others(5): Show |
C | 1 | a0005c0005t0001g0124 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.58-2207_58-2196del others(12): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575769 | |||||||
chr18:23575897 | G | A | 129 | a0001c0006t0001g0029 a0001c0006t0001g0030 a0002c0002t0004g0232 others(126): Show |
132 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.58-2323C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575897 | |||||||
chr18:23575939 | A | G | 1 | a0001c0001t0002g0291 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.58-2365T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23575939 | |||||||
chr18:23576022 | G | A | 1 | a0001c0001t0001g0110 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.58-2448C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576022 | |||||||
chr18:23576121 | G | A | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.58-2547C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576121 | |||||||
chr18:23576168 | G | A | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.58-2594C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576168 | |||||||
chr18:23576183 | C | T | 1 | a0003c0003t0001g0285 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.58-2609G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576183 | |||||||
chr18:23576242 | AAAAC | A | 9 | a0001c0001t0003g0013 a0001c0001t0003g0289 a0001c0001t0003g0294 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.58-2672_58-2669del others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576242 | |||||||
chr18:23576262 | C | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.58-2688G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576262 | |||||||
chr18:23576358 | G | A | 1 | a0005c0005t0001g0160 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.58-2784C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576358 | |||||||
chr18:23576629 | G | A | 126 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(123): Show |
129 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.58-3055C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576629 | |||||||
chr18:23576755 | C | T | 127 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(124): Show |
130 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.58-3181G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576755 | |||||||
chr18:23576769 | C | T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.58-3195G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576769 | |||||||
chr18:23576774 | C | T | 1 | a0001c0014t0003g0352 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.58-3200G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576774 | |||||||
chr18:23576836 | G | A | 2 | a0008c0009t0001g0084 a0008c0009t0001g0085 |
2 | HG02630.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.58-3262C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576836 | |||||||
chr18:23576912 | G | A | 1 | a0014c0022t0001g0086 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.58-3338C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576912 | |||||||
chr18:23576940 | C | T | 1 | a0007c0008t0001g0095 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.58-3366G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23576940 | |||||||
chr18:23577038 | G | C | 1 | a0004c0004t0001g0272 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.58-3464C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577038 | |||||||
chr18:23577175 | C | T | 309 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(306): Show |
327 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(324): Show |
intron_variant | MODIFIER | c.58-3601G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577175 | |||||||
chr18:23577250 | G | C | 1 | a0001c0001t0002g0324 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.58-3676C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577250 | |||||||
chr18:23577257 | T | C | 1 | a0001c0001t0002g0323 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.58-3683A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577257 | |||||||
chr18:23577318 | T | TAGATAC | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.58-3745_58-3744ins others(6): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577318 | |||||||
chr18:23577329 | T | C | 1 | a0005c0005t0001g0160 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.58-3755A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577329 | |||||||
chr18:23577333 | T | A | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.58-3759A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577333 | |||||||
chr18:23577367 | T | TGATTGGT others(149): Show |
1 | a0004c0004t0001g0188 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.58-3794_58-3793ins others(156): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577367 | T | TGATTGGT others(151): Show |
1 | a0001c0006t0001g0020 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.58-3794_58-3793ins others(158): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577367 | T | TGATTGGT others(151): Show |
2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.58-3794_58-3793ins others(158): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577367 | T | TGATTGGT others(151): Show |
172 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(169): Show |
187 | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(184): Show |
intron_variant | MODIFIER | c.58-3794_58-3793ins others(158): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577367 | T | TGATTGGT others(149): Show |
128 | a0002c0002t0004g0232 a0003c0003t0001g0011 a0003c0003t0001g0014 others(125): Show |
131 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.58-3794_58-3793ins others(156): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577367 | T | TGATTGGT others(32): Show |
5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.58-3794_58-3793ins others(39): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577367 | |||||||
chr18:23577377 | A | G | 1 | a0001c0001t0002g0324 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.58-3803T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577377 | |||||||
chr18:23577385 | T | A | 1 | a0001c0001t0002g0324 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.58-3811A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577385 | |||||||
chr18:23577486 | T | C | 1 | a0004c0004t0001g0271 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.58-3912A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577486 | |||||||
chr18:23577721 | CGGAGGGG others(3): Show |
C | 1 | a0004c0004t0001g0272 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.58-4157_58-4148del others(10): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577721 | |||||||
chr18:23577776 | T | A | 1 | a0002c0002t0001g0087 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.58-4202A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577776 | |||||||
chr18:23577827 | G | A | 1 | a0002c0002t0001g0088 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.58-4253C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577827 | |||||||
chr18:23577853 | C | T | 1 | a0001c0028t0003g0345 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.58-4279G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577853 | |||||||
chr18:23577859 | C | T | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.58-4285G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577859 | |||||||
chr18:23577967 | G | A | 1 | a0002c0002t0001g0089 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.58-4393C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577967 | |||||||
chr18:23577980 | C | T | 1 | a0002c0034t0001g0034 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.58-4406G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23577980 | |||||||
chr18:23578570 | G | A | 2 | a0002c0002t0006g0090 a0002c0002t0006g0091 |
2 | HG03041.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.58-4996C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578570 | |||||||
chr18:23578643 | T | A | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.58-5069A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578643 | |||||||
chr18:23578765 | A | C | 1 | a0001c0006t0001g0017 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.58-5191T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578765 | |||||||
chr18:23578847 | G | A | 17 | a0001c0006t0001g0006 a0001c0006t0001g0015 a0001c0006t0001g0016 others(14): Show |
18 | HG00544.hp2 HG00733.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.58-5273C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578847 | |||||||
chr18:23578865 | G | A | 1 | a0001c0001t0002g0325 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.58-5291C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578865 | |||||||
chr18:23578925 | C | T | 3 | a0001c0001t0003g0350 a0001c0012t0003g0348 a0001c0012t0003g0349 |
3 | HG02145.hp2 HG02922.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.58-5351G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23578925 | |||||||
chr18:23579390 | C | T | 3 | a0001c0010t0001g0032 a0001c0010t0001g0033 a0001c0010t0001g0100 |
3 | HG02258.hp2 HG02615.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.58-5816G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579390 | |||||||
chr18:23579418 | G | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.58-5844C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579418 | |||||||
chr18:23579444 | G | C | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.58-5870C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579444 | |||||||
chr18:23579514 | G | A | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5940C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579514 | |||||||
chr18:23579520 | G | A | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5946C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579520 | |||||||
chr18:23579526 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5952T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579526 | |||||||
chr18:23579529 | T | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5955A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579529 | |||||||
chr18:23579531 | C | A | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5957G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579531 | |||||||
chr18:23579533 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5959T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579533 | |||||||
chr18:23579538 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5964T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579538 | |||||||
chr18:23579544 | T | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5970A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579544 | |||||||
chr18:23579545 | G | T | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5971C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579545 | |||||||
chr18:23579550 | G | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5976C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579550 | |||||||
chr18:23579551 | G | T | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5977C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579551 | |||||||
chr18:23579552 | G | T | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5978C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579552 | |||||||
chr18:23579554 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5980T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579554 | |||||||
chr18:23579555 | G | A | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5981C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579555 | |||||||
chr18:23579557 | T | A | 1 | a0001c0001t0002g0326 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.58-5983A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579557 | |||||||
chr18:23579567 | G | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5993C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579567 | |||||||
chr18:23579569 | T | C | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.58-5995A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579569 | |||||||
chr18:23579573 | A | G | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-5999T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579573 | |||||||
chr18:23579582 | G | T | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6008C>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579582 | |||||||
chr18:23579583 | G | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6009C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579583 | |||||||
chr18:23579588 | G | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6014C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579588 | |||||||
chr18:23579589 | T | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6015A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579589 | |||||||
chr18:23579590 | T | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6016A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579590 | |||||||
chr18:23579591 | A | G | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6017T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579591 | |||||||
chr18:23579592 | A | G | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6018T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579592 | |||||||
chr18:23579596 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6022T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579596 | |||||||
chr18:23579597 | A | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6023T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579597 | |||||||
chr18:23579598 | A | AACCCCTC others(49): Show |
1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6025_58-6024ins others(56): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579598 | |||||||
chr18:23579599 | G | C | 1 | a0012c0018t0001g0161 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.58-6025C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579599 | |||||||
chr18:23579666 | A | G | 310 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(307): Show |
328 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(325): Show |
intron_variant | MODIFIER | c.58-6092T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579666 | |||||||
chr18:23579816 | C | T | 1 | a0001c0001t0002g0300 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.58-6242G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579816 | |||||||
chr18:23579822 | T | C | 1 | a0001c0001t0002g0340 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.58-6248A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579822 | |||||||
chr18:23579845 | G | A | 2 | a0002c0002t0001g0092 a0002c0002t0001g0093 |
2 | NA19010.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.58-6271C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579845 | |||||||
chr18:23579881 | T | C | 1 | a0002c0025t0001g0111 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.58-6307A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579881 | |||||||
chr18:23579883 | T | TA | 299 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(296): Show |
315 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(312): Show |
intron_variant | MODIFIER | c.58-6310dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23579883 | |||||||
chr18:23580211 | ACT | A | 18 | a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 others(15): Show |
18 | HG00408.hp2 HG02015.hp2 HG02040.hp1 others(15): Show |
intron_variant | MODIFIER | c.57+6074_57+6075del others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23580211 | |||||||
chr18:23581170 | C | T | 255 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(252): Show |
269 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(266): Show |
intron_variant | MODIFIER | c.57+5117G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581170 | |||||||
chr18:23581420 | G | A | 2 | a0005c0005t0001g0163 a0005c0005t0001g0164 |
2 | NA18942.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.57+4867C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581420 | |||||||
chr18:23581481 | AC | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.57+4805delG | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581481 | |||||||
chr18:23581515 | T | G | 8 | a0001c0001t0001g0113 a0001c0001t0003g0013 a0001c0001t0003g0289 others(5): Show |
9 | HG01167.hp1 HG01169.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.57+4772A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581515 | |||||||
chr18:23581689 | A | G | 4 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(1): Show |
4 | HG01884.hp2 HG02976.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.57+4598T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581689 | |||||||
chr18:23581690 | T | C | 1 | a0002c0002t0001g0094 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.57+4597A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581690 | |||||||
chr18:23581769 | C | G | 1 | a0005c0005t0001g0123 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.57+4518G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581769 | |||||||
chr18:23581796 | A | G | 1 | a0002c0002t0001g0031 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.57+4491T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581796 | |||||||
chr18:23581836 | C | T | 7 | a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 others(4): Show |
7 | NA18942.hp2 NA18960.hp2 NA18966.hp1 others(4): Show |
intron_variant | MODIFIER | c.57+4451G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581836 | |||||||
chr18:23581911 | C | T | 46 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(43): Show |
53 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.57+4376G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581911 | |||||||
chr18:23581922 | TGAA | T | 4 | a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0297 others(1): Show |
4 | HG00423.hp2 NA18967.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.57+4362_57+4364del others(3): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581922 | |||||||
chr18:23581925 | A | G | 1 | a0003c0003t0001g0270 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.57+4362T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581925 | |||||||
chr18:23581941 | A | C | 1 | a0002c0002t0004g0099 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.57+4346T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581941 | |||||||
chr18:23581979 | C | T | 2 | a0001c0001t0002g0334 a0004c0004t0001g0177 |
2 | HG00438.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.57+4308G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581979 | |||||||
chr18:23581991 | C | G | 1 | a0001c0006t0003g0342 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.57+4296G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23581991 | |||||||
chr18:23582071 | G | A | 5 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(2): Show |
5 | HG01884.hp2 HG02976.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.57+4216C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582071 | |||||||
chr18:23582131 | T | A | 2 | a0001c0001t0003g0343 a0001c0001t0003g0344 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.57+4156A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582131 | |||||||
chr18:23582181 | A | C | 21 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(18): Show |
23 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.57+4106T>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582181 | |||||||
chr18:23582197 | A | G | 3 | a0001c0006t0001g0017 a0001c0006t0001g0019 a0001c0006t0001g0020 |
3 | HG00733.hp2 HG00735.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.57+4090T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582197 | |||||||
chr18:23582324 | C | T | 288 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(285): Show |
304 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(301): Show |
intron_variant | MODIFIER | c.57+3963G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582324 | |||||||
chr18:23582696 | C | G | 1 | a0005c0005t0001g0122 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.57+3591G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582696 | |||||||
chr18:23582760 | G | A | 5 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0008 others(2): Show |
6 | HG02559.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.57+3527C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582760 | |||||||
chr18:23582806 | GA | G | 285 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(282): Show |
301 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(298): Show |
intron_variant | MODIFIER | c.57+3480delT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582806 | |||||||
chr18:23582864 | A | G | 1 | a0006c0007t0001g0170 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.57+3423T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23582864 | |||||||
chr18:23583051 | G | A | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.57+3236C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583051 | |||||||
chr18:23583099 | C | A | 7 | a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337 others(4): Show |
7 | HG00438.hp2 HG02083.hp2 HG03710.hp2 others(4): Show |
intron_variant | MODIFIER | c.57+3188G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583099 | |||||||
chr18:23583106 | C | CA | 117 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(114): Show |
128 | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(125): Show |
intron_variant | MODIFIER | c.57+3180dupT | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583106 | |||||||
chr18:23583106 | C | CAA | 148 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(145): Show |
154 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(151): Show |
intron_variant | MODIFIER | c.57+3179_57+3180dup others(2): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583106 | |||||||
chr18:23583106 | CAAAAAAA others(3): Show |
C | 1 | a0003c0003t0001g0165 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.57+3171_57+3180del others(10): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583106 | |||||||
chr18:23583173 | G | A | 1 | a0001c0006t0003g0342 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.57+3114C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583173 | |||||||
chr18:23583833 | T | C | 1 | a0002c0025t0001g0111 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.57+2454A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23583833 | |||||||
chr18:23584215 | G | A | 3 | a0002c0002t0005g0355 a0002c0002t0005g0356 a0002c0002t0005g0357 |
3 | HG02055.hp2 HG02897.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.57+2072C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584215 | |||||||
chr18:23584443 | G | A | 1 | a0004c0004t0001g0284 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.57+1844C>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584443 | |||||||
chr18:23584719 | C | T | 5 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.57+1568G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584719 | |||||||
chr18:23584853 | T | G | 2 | a0003c0011t0003g0005 a0003c0029t0003g0351 |
4 | HG03139.hp1 HG03471.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.57+1434A>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584853 | |||||||
chr18:23584970 | C | A | 1 | a0003c0003t0001g0285 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.57+1317G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584970 | |||||||
chr18:23584995 | T | A | 2 | a0001c0014t0003g0352 a0001c0014t0003g0353 |
2 | HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.57+1292A>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23584995 | |||||||
chr18:23585030 | G | C | 129 | a0002c0002t0001g0002 a0002c0002t0001g0185 a0002c0002t0001g0187 others(126): Show |
134 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.57+1257C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585030 | |||||||
chr18:23585063 | T | TAAAAATA others(6062): Show |
1 | a0003c0003t0001g0112 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.57+1223_57+1224ins others(6069): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585063 | |||||||
chr18:23585116 | C | A | 229 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(226): Show |
238 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(235): Show |
intron_variant | MODIFIER | c.57+1171G>T | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585116 | |||||||
chr18:23585199 | C | T | 303 | a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0098 others(300): Show |
321 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(318): Show |
intron_variant | MODIFIER | c.57+1088G>A | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585199 | |||||||
chr18:23585394 | T | C | 2 | a0006c0007t0001g0286 a0006c0007t0001g0287 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.57+893A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585394 | |||||||
chr18:23585445 | T | C | 129 | a0002c0002t0001g0002 a0002c0002t0001g0185 a0002c0002t0001g0187 others(126): Show |
134 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.57+842A>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585445 | |||||||
chr18:23585684 | A | G | 1 | a0003c0003t0001g0014 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.57+603T>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23585684 | |||||||
chr18:23586055 | G | C | 1 | a0001c0001t0001g0288 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.57+232C>G | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23586055 | |||||||
chr18:23586276 | C | G | 1 | a0001c0001t0003g0289 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.57+11G>C | NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 1/24 | chr18 | 23586276 |