Item | Value |
---|---|
geneid | 29881 |
ensemblid | ENSG00000015520.15 |
hgncid | 7898 |
symbol | NPC1L1 |
name | NPC1 like intracellular cholesterol transporter 1 |
refseq_nuc | NM_001101648.2 |
refseq_prot | NP_001095118.1 |
ensembl_nuc | ENST00000381160.8 |
ensembl_prot | ENSP00000370552.3 |
mane_status | MANE Select |
chr | chr7 |
start | 44512535 |
end | 44541330 |
strand | - |
ver | v1.2 |
region | chr7:44512535-44541330 |
region5000 | chr7:44507535-44546330 |
regionname0 | NPC1L1_chr7_44512535_44541330 |
regionname5000 | NPC1L1_chr7_44507535_44546330 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1332 | 281 | 54 | 55 | 120 | 18 | 32 | 82 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0002 | 0/0 | 1332 | 8 | 8 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0003 | 0/0 | 1332 | 5 | 3 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0004 | 0/0 | 1332 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0005 | 0/0 | 1332 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0006 | 0/0 | 1332 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0007 | 0/0 | 1332 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0008 | 0/0 | 1332 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0009 | 0/0 | 1332 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0010 | 0/0 | 1332 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0011 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0012 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0013 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0014 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0015 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0016 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0017 | 0/0 | 1013 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1008): Show |
chr7 | 44507535 | 44546330 |
a0018 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0019 | 0/0 | 1332 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0020 | 0/0 | 1332 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
a0021 | 0/0 | 1332 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | MAEAG others(1327): Show |
chr7 | 44507535 | 44546330 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 3996 | 171 | 32 | 40 | 66 | 7 | 25 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0002 | 0/0 | 3996 | 73 | 12 | 7 | 47 | 5 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0003 | 0/1 | 3996 | 10 | 0 | 2 | 3 | 2 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0004 | 0/0 | 3996 | 4 | 0 | 3 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0006 | 0/0 | 3996 | 3 | 2 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0008 | 0/0 | 3996 | 3 | 0 | 1 | 0 | 2 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0012 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0013 | 0/0 | 3996 | 2 | 0 | 0 | 0 | 2 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0018 | 0/0 | 3996 | 2 | 0 | 0 | 0 | 0 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0019 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0020 | 0/0 | 3996 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0024 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0025 | 0/0 | 3996 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0027 | 0/0 | 3996 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0035 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0036 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0037 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0001c0042 | 0/0 | 3996 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0002c0005 | 0/0 | 3996 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0002c0015 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0002c0029 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0002c0031 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0003c0009 | 0/0 | 3996 | 3 | 2 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0003c0039 | 0/0 | 3996 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0003c0040 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0004c0007 | 0/0 | 3996 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0004c0010 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0005c0016 | 0/0 | 3996 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0006c0017 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0007c0014 | 0/0 | 3996 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0008c0011 | 0/0 | 3996 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0009c0033 | 0/0 | 3996 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0010c0021 | 0/0 | 3996 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0011c0043 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0012c0030 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0013c0038 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0014c0022 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0015c0044 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0016c0041 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0017c0026 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0018c0034 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0019c0032 | 0/0 | 3996 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0020c0023 | 0/0 | 3996 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 | ||
a0021c0028 | 0/0 | 3996 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | ATGGC others(3991): Show |
chr7 | 44507535 | 44546330 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 4982 | 169 | 30 | 40 | 66 | 7 | 25 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0001t0006 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0001t0009 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0002t0001 | 0/0 | 4982 | 66 | 12 | 7 | 43 | 4 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0002t0004 | 0/0 | 4982 | 7 | 0 | 0 | 4 | 1 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0003t0002 | 0/1 | 4982 | 9 | 0 | 2 | 3 | 2 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0003t0005 | 0/0 | 4982 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0004t0005 | 0/0 | 4982 | 4 | 0 | 3 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0006t0001 | 0/0 | 4982 | 3 | 2 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0008t0004 | 0/0 | 4982 | 3 | 0 | 1 | 0 | 2 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0012t0001 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0013t0005 | 0/0 | 4982 | 2 | 0 | 0 | 0 | 2 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0018t0002 | 0/0 | 4982 | 2 | 0 | 0 | 0 | 0 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0019t0003 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0020t0001 | 0/0 | 4982 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0024t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0025t0001 | 0/0 | 4982 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0027t0001 | 0/0 | 4982 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0035t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0036t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0037t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0001c0042t0001 | 0/0 | 4982 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0002c0005t0001 | 0/0 | 4982 | 4 | 4 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0002c0015t0001 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0002c0029t0003 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0002c0031t0008 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0003c0009t0003 | 0/0 | 4982 | 3 | 2 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0003c0039t0001 | 0/0 | 4982 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0003c0040t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0004c0007t0003 | 0/0 | 4982 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0004c0010t0001 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0005c0016t0001 | 0/0 | 4982 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0006c0017t0003 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0007c0014t0001 | 0/0 | 4982 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0008c0011t0001 | 0/0 | 4982 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0009c0033t0007 | 0/0 | 4982 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0010c0021t0001 | 0/0 | 4982 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0011c0043t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0012c0030t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0013c0038t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0014c0022t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0015c0044t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0016c0041t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0017c0026t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0018c0034t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0019c0032t0001 | 0/0 | 4982 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0020c0023t0001 | 0/0 | 4982 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
a0021c0028t0001 | 0/0 | 4982 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | AATGT others(4977): Show |
chr7 | 44507535 | 44546330 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/0 | 18 | 0 | 5 | 6 | 1 | 5 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0003 | 0/0 | 8 | 0 | 0 | 8 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0004 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0005 | 0/0 | 5 | 0 | 4 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0006 | 0/0 | 5 | 0 | 0 | 4 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0009 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0010 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0011 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0012 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0013 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0019 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0020 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0023 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0024 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0025 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0029 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0031 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0032 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0033 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0034 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0036 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0006g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0001t0009g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0002 | 0/0 | 15 | 1 | 1 | 13 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0007 | 0/0 | 4 | 0 | 2 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0014 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0038 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0039 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0040 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0041 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0042 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0043 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0002t0004g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0016 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0018 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0056 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0003t0005g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0004t0005g0021 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0004t0005g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0004t0005g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0006t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0006t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0006t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0008t0004g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0008t0004g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0008t0004g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0012t0001g0027 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0013t0005g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0013t0005g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0018t0002g0017 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0019t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0019t0003g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0020t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0020t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0024t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0025t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0027t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0035t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0036t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0037t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0001c0042t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0005t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0005t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0005t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0005t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0015t0001g0037 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0029t0003g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0002c0031t0008g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0003c0009t0003g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0003c0009t0003g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0003c0009t0003g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0003c0039t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0003c0040t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0004c0007t0003g0008 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0004c0010t0001g0035 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0005c0016t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0005c0016t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0006c0017t0003g0044 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0007c0014t0001g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0008c0011t0001g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0009c0033t0007g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0010c0021t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0011c0043t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0012c0030t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0013c0038t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0014c0022t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0015c0044t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0016c0041t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0017c0026t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0018c0034t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0019c0032t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0020c0023t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
a0021c0028t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0013 | t0005 | g0124 | EUR | GBR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0154 | EUR | GBR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00140 | hp1 | a0001 | c0002 | t0001 | g0184 | EUR | GBR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0160 | EUR | GBR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00280 | hp1 | a0001 | c0003 | t0002 | g0016 | EUR | FIN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00280 | hp2 | a0001 | c0013 | t0005 | g0102 | EUR | FIN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00323 | hp1 | a0001 | c0002 | t0001 | g0190 | EUR | FIN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0009 | EUR | FIN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00408 | hp1 | a0001 | c0002 | t0001 | g0203 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00423 | hp1 | a0001 | c0042 | t0001 | g0219 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00423 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00438 | hp1 | a0001 | c0003 | t0002 | g0055 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00438 | hp2 | a0001 | c0002 | t0001 | g0198 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00597 | hp1 | a0001 | c0002 | t0001 | g0043 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00609 | hp1 | a0001 | c0002 | t0001 | g0201 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00639 | hp1 | a0001 | c0004 | t0005 | g0021 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00639 | hp2 | a0001 | c0006 | t0001 | g0093 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00673 | hp1 | a0001 | c0002 | t0004 | g0045 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00673 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | CHS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00735 | hp2 | a0001 | c0002 | t0001 | g0189 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0023 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG00741 | hp2 | a0003 | c0009 | t0003 | g0215 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01074 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01081 | hp1 | a0001 | c0004 | t0005 | g0072 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01168 | hp2 | a0001 | c0003 | t0002 | g0016 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0077 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PUR | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0084 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01257 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01346 | hp1 | a0001 | c0004 | t0005 | g0021 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01358 | hp1 | a0001 | c0003 | t0002 | g0018 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01358 | hp2 | a0001 | c0027 | t0001 | g0147 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0065 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0063 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01433 | hp2 | a0003 | c0039 | t0001 | g0213 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01496 | hp2 | a0009 | c0033 | t0007 | g0173 | AMR | CLM | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01515 | hp1 | a0001 | c0008 | t0004 | g0053 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01515 | hp2 | a0001 | c0001 | t0001 | g0144 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0034 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01516 | hp2 | a0001 | c0002 | t0001 | g0041 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01517 | hp1 | a0001 | c0008 | t0004 | g0052 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01517 | hp2 | a0001 | c0002 | t0001 | g0041 | EUR | IBS | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01884 | hp1 | a0001 | c0037 | t0001 | g0187 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01884 | hp2 | a0004 | c0010 | t0001 | g0035 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01928 | hp1 | a0001 | c0002 | t0001 | g0007 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01934 | hp2 | a0001 | c0002 | t0001 | g0043 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01978 | hp1 | a0001 | c0002 | t0001 | g0039 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0079 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01981 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG01993 | hp2 | a0001 | c0002 | t0001 | g0179 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02040 | hp1 | a0001 | c0002 | t0001 | g0180 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02055 | hp1 | a0001 | c0001 | t0009 | g0151 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02055 | hp2 | a0001 | c0006 | t0001 | g0094 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0130 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02074 | hp1 | a0001 | c0002 | t0001 | g0200 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02074 | hp2 | a0001 | c0002 | t0004 | g0049 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02080 | hp2 | a0001 | c0002 | t0001 | g0192 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02129 | hp2 | a0001 | c0002 | t0001 | g0191 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02135 | hp1 | a0001 | c0002 | t0001 | g0202 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02135 | hp2 | a0001 | c0002 | t0001 | g0193 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02145 | hp1 | a0001 | c0002 | t0001 | g0172 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02145 | hp2 | a0001 | c0002 | t0001 | g0002 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02148 | hp1 | a0001 | c0001 | t0001 | g0082 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02148 | hp2 | a0010 | c0021 | t0001 | g0061 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02155 | hp1 | a0001 | c0002 | t0001 | g0197 | EAS | CDX | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CDX | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02257 | hp1 | a0004 | c0007 | t0003 | g0008 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02258 | hp1 | a0003 | c0040 | t0001 | g0217 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02258 | hp2 | a0002 | c0015 | t0001 | g0037 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02280 | hp1 | a0011 | c0043 | t0001 | g0220 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02293 | hp1 | a0005 | c0016 | t0001 | g0169 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02300 | hp1 | a0001 | c0008 | t0004 | g0054 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02300 | hp2 | a0001 | c0002 | t0001 | g0007 | AMR | PEL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02523 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02572 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02572 | hp2 | a0002 | c0005 | t0001 | g0166 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02622 | hp2 | a0006 | c0017 | t0003 | g0044 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02647 | hp1 | a0001 | c0036 | t0001 | g0205 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02647 | hp2 | a0001 | c0002 | t0001 | g0185 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02717 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02723 | hp1 | a0002 | c0005 | t0001 | g0168 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02738 | hp1 | a0001 | c0004 | t0005 | g0083 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02738 | hp2 | a0001 | c0002 | t0004 | g0047 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02809 | hp1 | a0001 | c0012 | t0001 | g0027 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02818 | hp1 | a0001 | c0024 | t0001 | g0149 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02886 | hp1 | a0001 | c0002 | t0001 | g0209 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02895 | hp1 | a0012 | c0030 | t0001 | g0164 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0058 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02896 | hp1 | a0013 | c0038 | t0001 | g0212 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02896 | hp2 | a0001 | c0001 | t0001 | g0103 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02922 | hp2 | a0007 | c0014 | t0001 | g0028 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02965 | hp2 | a0014 | c0022 | t0001 | g0062 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02970 | hp1 | a0001 | c0002 | t0001 | g0207 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0118 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0081 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0223 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03041 | hp2 | a0001 | c0012 | t0001 | g0027 | AFR | GWD | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03130 | hp1 | a0001 | c0002 | t0001 | g0204 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03130 | hp2 | a0001 | c0035 | t0001 | g0208 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03139 | hp1 | a0001 | c0001 | t0001 | g0106 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03139 | hp2 | a0003 | c0009 | t0003 | g0216 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03195 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03195 | hp2 | a0002 | c0005 | t0001 | g0163 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03209 | hp1 | a0001 | c0002 | t0001 | g0183 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0150 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0076 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0129 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03453 | hp1 | a0015 | c0044 | t0001 | g0221 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03453 | hp2 | a0001 | c0019 | t0003 | g0186 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03486 | hp1 | a0018 | c0034 | t0001 | g0174 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03486 | hp2 | a0003 | c0009 | t0003 | g0214 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03491 | hp1 | a0001 | c0018 | t0002 | g0017 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0085 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03492 | hp1 | a0001 | c0018 | t0002 | g0017 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03516 | hp1 | a0001 | c0002 | t0001 | g0206 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03516 | hp2 | a0001 | c0019 | t0003 | g0182 | AFR | ESN | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03579 | hp1 | a0007 | c0014 | t0001 | g0028 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03579 | hp2 | a0019 | c0032 | t0001 | g0167 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0157 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0073 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03669 | hp1 | a0020 | c0023 | t0001 | g0066 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03669 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0074 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0087 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0114 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0091 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0115 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0137 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0086 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04184 | hp1 | a0021 | c0028 | t0001 | g0161 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04184 | hp2 | a0001 | c0003 | t0002 | g0018 | SAS | BEB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04199 | hp2 | a0001 | c0002 | t0004 | g0051 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0013 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG04204 | hp2 | a0001 | c0003 | t0005 | g0188 | SAS | STU | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18522 | hp1 | a0001 | c0006 | t0001 | g0095 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18522 | hp2 | a0004 | c0007 | t0003 | g0008 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18612 | hp1 | a0001 | c0002 | t0001 | g0196 | EAS | CHB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | CHB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18906 | hp1 | a0001 | c0001 | t0006 | g0128 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0127 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18940 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18942 | hp2 | a0001 | c0002 | t0001 | g0038 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18945 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18950 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18952 | hp2 | a0001 | c0002 | t0001 | g0199 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18956 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18957 | hp1 | a0001 | c0002 | t0001 | g0038 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18957 | hp2 | a0001 | c0002 | t0004 | g0048 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18959 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18960 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18964 | hp2 | a0008 | c0011 | t0001 | g0026 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18965 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18968 | hp2 | a0001 | c0002 | t0001 | g0195 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18969 | hp2 | a0001 | c0002 | t0001 | g0042 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18974 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18974 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18978 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18979 | hp2 | a0001 | c0003 | t0002 | g0015 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18981 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18982 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18984 | hp2 | a0001 | c0002 | t0001 | g0176 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18989 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18990 | hp2 | a0001 | c0020 | t0001 | g0210 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18992 | hp2 | a0001 | c0002 | t0001 | g0175 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18994 | hp2 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18999 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18999 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19000 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19003 | hp1 | a0001 | c0002 | t0001 | g0042 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19007 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19007 | hp2 | a0001 | c0020 | t0001 | g0211 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19010 | hp1 | a0001 | c0002 | t0001 | g0177 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19010 | hp2 | a0001 | c0025 | t0001 | g0141 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0145 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19030 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19043 | hp2 | a0002 | c0029 | t0003 | g0059 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19057 | hp1 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19063 | hp2 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19065 | hp1 | a0001 | c0002 | t0001 | g0007 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19065 | hp2 | a0001 | c0003 | t0002 | g0015 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19068 | hp1 | a0001 | c0002 | t0001 | g0181 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19074 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19077 | hp2 | a0001 | c0002 | t0001 | g0194 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19082 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19082 | hp2 | a0008 | c0011 | t0001 | g0026 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19084 | hp2 | a0001 | c0002 | t0004 | g0046 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19088 | hp2 | a0001 | c0002 | t0001 | g0222 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0121 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA19240 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | YRI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | ASW | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ASW | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20752 | hp2 | a0001 | c0002 | t0004 | g0050 | EUR | TSI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0088 | EUR | TSI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20805 | hp2 | a0001 | c0003 | t0002 | g0057 | EUR | TSI | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | GIH | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02109 | hp1 | a0002 | c0005 | t0001 | g0165 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02109 | hp2 | a0001 | c0002 | t0001 | g0171 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02486 | hp1 | a0006 | c0017 | t0003 | g0044 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03471 | hp1 | a0016 | c0041 | t0001 | g0218 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG03471 | hp2 | a0017 | c0026 | t0001 | g0109 | AFR | MSL | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | USA | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
HG06807 | hp2 | a0004 | c0010 | t0001 | g0035 | AFR | USA | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA18955 | hp2 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20300 | hp1 | a0002 | c0015 | t0001 | g0037 | AFR | USA | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA20300 | hp2 | a0005 | c0016 | t0001 | g0170 | AFR | USA | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA21309 | hp1 | a0002 | c0031 | t0008 | g0162 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
NA21309 | hp2 | a0004 | c0007 | t0003 | g0008 | AFR | LWK | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
homoSapiens | chm13v2 | a0001 | c0003 | t0002 | g0056 | REF | REF | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | NPC1L1_chr7_44507535_44546330 | NPC1L1 | chr7 | 44507535 | 44546330 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:44513605 | C | T | 1 | a0006 | 2 | HG02486.hp1 HG02622.hp2 |
missense_variant | MODERATE | c.3841G>A | p.Glu1281Lys | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 3912/4982 | 3841/3999 | 1281/1332 | chr7 | 44513605 | |||
chr7:44513634 | G | A | 1 | a0019 | 1 | HG03579.hp2 | missense_variant | MODERATE | c.3812C>T | p.Pro1271Leu | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 3883/4982 | 3812/3999 | 1271/1332 | chr7 | 44513634 | |||
chr7:44515911 | C | A | 1 | a0013 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.3688G>T | p.Ala1230Ser | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/19 | 3759/4982 | 3688/3999 | 1230/1332 | chr7 | 44515911 | |||
chr7:44516910 | C | G | 1 | a0008 | 2 | NA18964.hp2 NA19082.hp2 |
missense_variant | MODERATE | c.3312G>C | p.Gln1104His | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 16/19 | 3383/4982 | 3312/3999 | 1104/1332 | chr7 | 44516910 | |||
chr7:44517235 | C | G | 2 | a0004 a0012 |
6 | HG01884.hp2 HG02257.hp1 HG02895.hp1 others(3): Show |
missense_variant | MODERATE | c.3259G>C | p.Asp1087His | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 15/19 | 3330/4982 | 3259/3999 | 1087/1332 | chr7 | 44517235 | |||
chr7:44521030 | C | T | 1 | a0017 | 1 | HG03471.hp2 | stop_gained | HIGH | c.3042G>A | p.Trp1014* | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 13/19 | 3113/4982 | 3042/3999 | 1014/1332 | chr7 | 44521030 | |||
chr7:44521745 | G | A | 1 | a0007 | 2 | HG02922.hp2 HG03579.hp1 |
missense_variant | MODERATE | c.2920C>T | p.Pro974Ser | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 12/19 | 2991/4982 | 2920/3999 | 974/1332 | chr7 | 44521745 | |||
chr7:44535883 | A | T | 1 | a0018 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.1940T>A | p.Ile647Asn | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/19 | 2011/4982 | 1940/3999 | 647/1332 | chr7 | 44535883 | |||
chr7:44536264 | T | C | 1 | a0013 | 1 | HG02896.hp1 | missense_variant | MODERATE | c.1846A>G | p.Met616Val | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 4/19 | 1917/4982 | 1846/3999 | 616/1332 | chr7 | 44536264 | |||
chr7:44536273 | C | T | 1 | a0020 | 1 | HG03669.hp1 | missense_variant | MODERATE | c.1837G>A | p.Val613Ile | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 4/19 | 1908/4982 | 1837/3999 | 613/1332 | chr7 | 44536273 | |||
chr7:44536884 | C | G | 1 | a0009 | 1 | HG01496.hp2 | missense_variant | MODERATE | c.1639G>C | p.Gly547Arg | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 3/19 | 1710/4982 | 1639/3999 | 547/1332 | chr7 | 44536884 | |||
chr7:44539136 | T | C | 1 | a0011 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.1261A>G | p.Arg421Gly | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1332/4982 | 1261/3999 | 421/1332 | chr7 | 44539136 | |||
chr7:44539154 | G | C | 1 | a0021 | 1 | HG04184.hp1 | missense_variant | MODERATE | c.1243C>G | p.Pro415Ala | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1314/4982 | 1243/3999 | 415/1332 | chr7 | 44539154 | |||
chr7:44539237 | T | C | 6 | a0002 a0012 a0013 others(3): Show |
13 | HG02109.hp1 HG02258.hp2 HG02572.hp2 others(10): Show |
missense_variant | MODERATE | c.1160A>G | p.Asn387Ser | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1231/4982 | 1160/3999 | 387/1332 | chr7 | 44539237 | |||
chr7:44539418 | C | T | 1 | a0014 | 1 | HG02965.hp2 | missense_variant | MODERATE | c.979G>A | p.Asp327Asn | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1050/4982 | 979/3999 | 327/1332 | chr7 | 44539418 | |||
chr7:44539469 | C | A | 2 | a0003 a0016 |
6 | HG00741.hp2 HG01433.hp2 HG02258.hp1 others(3): Show |
missense_variant | MODERATE | c.928G>T | p.Ala310Ser | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 999/4982 | 928/3999 | 310/1332 | chr7 | 44539469 | |||
chr7:44539481 | G | A | 1 | a0015 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.916C>T | p.Arg306Cys | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 987/4982 | 916/3999 | 306/1332 | chr7 | 44539481 | |||
chr7:44539580 | C | A | 1 | a0005 | 2 | HG02293.hp1 NA20300.hp2 |
missense_variant | MODERATE | c.817G>T | p.Asp273Tyr | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 888/4982 | 817/3999 | 273/1332 | chr7 | 44539580 | |||
chr7:44539712 | C | T | 1 | a0010 | 1 | HG02148.hp2 | missense_variant | MODERATE | c.685G>A | p.Val229Met | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 756/4982 | 685/3999 | 229/1332 | chr7 | 44539712 | |||
chr7:44540198 | T | A | 1 | a0011 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.199A>T | p.Thr67Ser | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 270/4982 | 199/3999 | 67/1332 | chr7 | 44540198 | |||
chr7:44540215 | G | A | 1 | a0015 | 1 | HG03453.hp1 | missense_variant | MODERATE | c.182C>T | p.Thr61Met | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 253/4982 | 182/3999 | 61/1332 | chr7 | 44540215 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:44513639 | A | G | 11 | a0001c0003 a0001c0004 a0001c0013 others(8): Show |
31 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(28): Show |
synonymous_variant | LOW | c.3807T>C | p.Val1269Val | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 3878/4982 | 3807/3999 | 1269/1332 | chr7 | 44513639 | |||
chr7:44515807 | G | A | 6 | a0001c0003 a0001c0008 a0001c0013 others(3): Show |
17 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(14): Show |
synonymous_variant | LOW | c.3792C>T | p.Tyr1264Tyr | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/19 | 3863/4982 | 3792/3999 | 1264/1332 | chr7 | 44515807 | |||
chr7:44515825 | C | T | 3 | a0001c0012 a0001c0037 a0003c0039 |
4 | HG01433.hp2 HG01884.hp1 HG02809.hp1 others(1): Show |
synonymous_variant | LOW | c.3774G>A | p.Leu1258Leu | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/19 | 3845/4982 | 3774/3999 | 1258/1332 | chr7 | 44515825 | |||
chr7:44521776 | C | T | 1 | a0001c0025 | 1 | NA19010.hp2 | synonymous_variant | LOW | c.2889G>A | p.Pro963Pro | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 12/19 | 2960/4982 | 2889/3999 | 963/1332 | chr7 | 44521776 | |||
chr7:44522183 | C | T | 1 | a0002c0029 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.2697G>A | p.Pro899Pro | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 11/19 | 2768/4982 | 2697/3999 | 899/1332 | chr7 | 44522183 | |||
chr7:44522207 | G | A | 1 | a0001c0019 | 2 | HG03453.hp2 HG03516.hp2 |
synonymous_variant | LOW | c.2673C>T | p.Asn891Asn | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 11/19 | 2744/4982 | 2673/3999 | 891/1332 | chr7 | 44522207 | |||
chr7:44532122 | A | G | 3 | a0001c0024 a0001c0035 a0001c0036 |
3 | HG02647.hp1 HG02818.hp1 HG03130.hp2 |
synonymous_variant | LOW | c.2505T>C | p.Ala835Ala | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 9/19 | 2576/4982 | 2505/3999 | 835/1332 | chr7 | 44532122 | |||
chr7:44532164 | A | C | 2 | a0001c0006 a0002c0015 |
5 | HG00639.hp2 HG02055.hp2 HG02258.hp2 others(2): Show |
synonymous_variant | LOW | c.2463T>G | p.Pro821Pro | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 9/19 | 2534/4982 | 2463/3999 | 821/1332 | chr7 | 44532164 | |||
chr7:44539020 | G | A | 1 | a0001c0020 | 2 | NA18990.hp2 NA19007.hp2 |
synonymous_variant | LOW | c.1377C>T | p.Pro459Pro | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1448/4982 | 1377/3999 | 459/1332 | chr7 | 44539020 | |||
chr7:44539191 | G | A | 1 | a0015c0044 | 1 | HG03453.hp1 | synonymous_variant | LOW | c.1206C>T | p.Gly402Gly | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 1277/4982 | 1206/3999 | 402/1332 | chr7 | 44539191 | |||
chr7:44539581 | G | C | 18 | a0001c0002 a0001c0003 a0001c0008 others(15): Show |
106 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(103): Show |
synonymous_variant | LOW | c.816C>G | p.Leu272Leu | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 887/4982 | 816/3999 | 272/1332 | chr7 | 44539581 | |||
chr7:44539869 | G | A | 1 | a0001c0042 | 1 | HG00423.hp1 | synonymous_variant | LOW | c.528C>T | p.Arg176Arg | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/19 | 599/4982 | 528/3999 | 176/1332 | chr7 | 44539869 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:44512566 | T | G | 1 | a0002c0031t0008 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*881A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 881 | chr7 | 44512566 | ||||||
chr7:44512610 | T | C | 6 | a0001c0003t0002 a0001c0003t0005 a0001c0004t0005 others(3): Show |
18 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*837A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 837 | chr7 | 44512610 | ||||||
chr7:44512715 | C | A | 1 | a0001c0001t0009 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*732G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 732 | chr7 | 44512715 | ||||||
chr7:44512820 | A | G | 1 | a0009c0033t0007 | 1 | HG01496.hp2 | 3_prime_UTR_variant | MODIFIER | c.*627T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 627 | chr7 | 44512820 | ||||||
chr7:44512926 | A | C | 1 | a0001c0001t0006 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*521T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 521 | chr7 | 44512926 | ||||||
chr7:44513317 | G | A | 5 | a0001c0019t0003 a0002c0029t0003 a0003c0009t0003 others(2): Show |
11 | HG00741.hp2 HG02257.hp1 HG02486.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*130C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 19/19 | 130 | chr7 | 44513317 | ||||||
chr7:44541277 | G | T | 4 | a0001c0002t0004 a0001c0003t0002 a0001c0008t0004 others(1): Show |
20 | HG00280.hp1 HG00438.hp1 HG00673.hp1 others(17): Show |
5_prime_UTR_variant | MODIFIER | c.-18C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/19 | 18 | chr7 | 44541277 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr7:44513759 | T | G | 1 | a0003c0009t0003g0214 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3797-110A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513759 | |||||||
chr7:44513856 | G | A | 1 | a0001c0001t0001g0117 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3797-207C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513856 | |||||||
chr7:44513893 | C | T | 11 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(8): Show |
16 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(13): Show |
intron_variant | MODIFIER | c.3797-244G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513893 | |||||||
chr7:44513897 | T | C | 21 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(18): Show |
30 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(27): Show |
intron_variant | MODIFIER | c.3797-248A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513897 | |||||||
chr7:44513914 | C | T | 1 | a0003c0040t0001g0217 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3797-265G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513914 | |||||||
chr7:44513915 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.3797-266C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513915 | |||||||
chr7:44513962 | C | G | 1 | a0007c0014t0001g0028 | 2 | HG02922.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3797-313G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44513962 | |||||||
chr7:44514227 | A | G | 35 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0118 others(32): Show |
46 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(43): Show |
intron_variant | MODIFIER | c.3797-578T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514227 | |||||||
chr7:44514319 | C | G | 1 | a0001c0001t0001g0071 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3797-670G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514319 | |||||||
chr7:44514520 | T | G | 17 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(14): Show |
23 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(20): Show |
intron_variant | MODIFIER | c.3797-871A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514520 | |||||||
chr7:44514739 | C | T | 1 | a0002c0031t0008g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3796+1064G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514739 | |||||||
chr7:44514750 | C | G | 2 | a0001c0008t0004g0052 a0001c0008t0004g0053 |
2 | HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.3796+1053G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514750 | |||||||
chr7:44514830 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.3796+973G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514830 | |||||||
chr7:44514844 | A | AC | 5 | a0001c0019t0003g0182 a0001c0019t0003g0186 a0002c0029t0003g0059 others(2): Show |
5 | HG00741.hp2 HG03139.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.3796+958_3796+959i others(3): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514844 | |||||||
chr7:44514845 | T | A | 5 | a0001c0019t0003g0182 a0001c0019t0003g0186 a0002c0029t0003g0059 others(2): Show |
5 | HG00741.hp2 HG03139.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.3796+958A>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514845 | |||||||
chr7:44514941 | A | C | 13 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(10): Show |
17 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(14): Show |
intron_variant | MODIFIER | c.3796+862T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44514941 | |||||||
chr7:44515000 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3796+803C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515000 | |||||||
chr7:44515084 | C | T | 2 | a0001c0002t0001g0176 a0001c0002t0001g0177 |
2 | NA18984.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.3796+719G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515084 | |||||||
chr7:44515111 | C | T | 2 | a0001c0001t0001g0067 a0001c0002t0001g0189 |
2 | HG00735.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.3796+692G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515111 | |||||||
chr7:44515291 | T | C | 22 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(19): Show |
29 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(26): Show |
intron_variant | MODIFIER | c.3796+512A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515291 | |||||||
chr7:44515482 | A | G | 26 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(23): Show |
35 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(32): Show |
intron_variant | MODIFIER | c.3796+321T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515482 | |||||||
chr7:44515600 | A | C | 26 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(23): Show |
35 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(32): Show |
intron_variant | MODIFIER | c.3796+203T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515600 | |||||||
chr7:44515629 | T | C | 1 | a0001c0001t0001g0075 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3796+174A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 18/18 | chr7 | 44515629 | |||||||
chr7:44515974 | T | G | 38 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0118 others(35): Show |
48 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(45): Show |
intron_variant | MODIFIER | c.3634-9A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 17/18 | chr7 | 44515974 | |||||||
chr7:44515987 | GTCAGGCA others(12): Show |
G | 2 | a0001c0013t0005g0102 a0006c0017t0003g0044 |
3 | HG00280.hp2 HG02486.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.3634-41_3634-23del others(19): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 17/18 | chr7 | 44515987 | |||||||
chr7:44516026 | T | C | 4 | a0001c0001t0001g0069 a0001c0001t0001g0150 a0001c0001t0009g0151 others(1): Show |
4 | HG02055.hp1 HG02723.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3633+58A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 17/18 | chr7 | 44516026 | |||||||
chr7:44516214 | G | A | 1 | a0001c0001t0001g0111 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3520-17C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 16/18 | chr7 | 44516214 | |||||||
chr7:44516270 | C | T | 1 | a0001c0002t0001g0202 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3520-73G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 16/18 | chr7 | 44516270 | |||||||
chr7:44516538 | C | A | 2 | a0001c0002t0001g0176 a0001c0002t0001g0177 |
2 | NA18984.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.3519+165G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 16/18 | chr7 | 44516538 | |||||||
chr7:44516675 | C | T | 1 | a0001c0001t0001g0075 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3519+28G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 16/18 | chr7 | 44516675 | |||||||
chr7:44517041 | T | C | 1 | a0001c0008t0004g0054 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.3288-107A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 15/18 | chr7 | 44517041 | |||||||
chr7:44517079 | G | A | 6 | a0001c0019t0003g0182 a0001c0019t0003g0186 a0002c0029t0003g0059 others(3): Show |
6 | HG00741.hp2 HG03139.hp2 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3287+128C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 15/18 | chr7 | 44517079 | |||||||
chr7:44517433 | G | T | 1 | a0001c0001t0001g0070 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.3137-76C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517433 | |||||||
chr7:44517435 | C | T | 8 | a0001c0001t0001g0058 a0001c0001t0001g0103 a0001c0001t0001g0111 others(5): Show |
8 | HG02055.hp2 HG02280.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.3137-78G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517435 | |||||||
chr7:44517436 | G | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(9): Show |
14 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.3137-79C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517436 | |||||||
chr7:44517520 | C | T | 1 | a0001c0001t0001g0111 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3137-163G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517520 | |||||||
chr7:44517666 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.3137-309A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517666 | |||||||
chr7:44517892 | G | A | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3137-535C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44517892 | |||||||
chr7:44518113 | C | CA | 11 | a0001c0019t0003g0182 a0001c0019t0003g0186 a0001c0035t0001g0208 others(8): Show |
14 | HG00741.hp2 HG01433.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.3137-757dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518113 | |||||||
chr7:44518113 | C | CAAA | 14 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(11): Show |
17 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.3137-759_3137-757d others(5): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518113 | |||||||
chr7:44518263 | G | A | 3 | a0001c0001t0001g0087 a0001c0019t0003g0182 a0001c0019t0003g0186 |
3 | HG03453.hp2 HG03516.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.3137-906C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518263 | |||||||
chr7:44518313 | G | A | 15 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(12): Show |
19 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.3137-956C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518313 | |||||||
chr7:44518413 | G | A | 12 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(9): Show |
15 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(12): Show |
intron_variant | MODIFIER | c.3137-1056C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518413 | |||||||
chr7:44518415 | C | T | 1 | a0001c0001t0001g0065 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.3137-1058G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518415 | |||||||
chr7:44518422 | G | A | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3137-1065C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518422 | |||||||
chr7:44518489 | C | T | 1 | a0001c0002t0001g0192 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3137-1132G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518489 | |||||||
chr7:44518551 | C | T | 4 | a0003c0009t0003g0214 a0003c0009t0003g0215 a0003c0009t0003g0216 others(1): Show |
4 | HG00741.hp2 HG01433.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.3137-1194G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518551 | |||||||
chr7:44518617 | C | T | 1 | a0001c0001t0001g0088 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3137-1260G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518617 | |||||||
chr7:44518669 | CA | C | 4 | a0001c0001t0001g0022 a0001c0001t0001g0134 a0001c0035t0001g0208 others(1): Show |
6 | HG01074.hp2 HG01981.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.3137-1313delT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518669 | |||||||
chr7:44518715 | T | C | 1 | a0001c0002t0001g0192 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3137-1358A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518715 | |||||||
chr7:44518761 | A | G | 1 | a0002c0005t0001g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3137-1404T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518761 | |||||||
chr7:44518858 | C | A | 1 | a0001c0001t0001g0036 | 2 | HG00642.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.3137-1501G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518858 | |||||||
chr7:44518860 | C | A | 1 | a0001c0002t0001g0177 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3137-1503G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518860 | |||||||
chr7:44518925 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3137-1568C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518925 | |||||||
chr7:44518929 | C | CTTCTTTT others(11): Show |
1 | a0001c0001t0001g0029 | 2 | HG02486.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3137-1590_3137-157 others(22): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44518929 | |||||||
chr7:44519025 | CTTTCT | C | 7 | a0001c0003t0002g0016 a0001c0003t0002g0057 a0001c0008t0004g0052 others(4): Show |
8 | HG00099.hp1 HG00280.hp1 HG01168.hp2 others(5): Show |
intron_variant | MODIFIER | c.3137-1673_3137-166 others(9): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519025 | |||||||
chr7:44519046 | T | C | 2 | a0004c0010t0001g0035 a0012c0030t0001g0164 |
3 | HG01884.hp2 HG02895.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.3137-1689A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519046 | |||||||
chr7:44519078 | T | A | 1 | a0001c0001t0001g0123 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3136+1687A>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519078 | |||||||
chr7:44519260 | A | C | 13 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(10): Show |
16 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.3136+1505T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519260 | |||||||
chr7:44519263 | G | A | 1 | a0001c0002t0001g0178 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.3136+1502C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519263 | |||||||
chr7:44519407 | T | G | 1 | a0001c0001t0001g0155 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3136+1358A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519407 | |||||||
chr7:44519410 | G | A | 2 | a0004c0010t0001g0035 a0012c0030t0001g0164 |
3 | HG01884.hp2 HG02895.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.3136+1355C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519410 | |||||||
chr7:44519530 | G | A | 1 | a0001c0035t0001g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3136+1235C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519530 | |||||||
chr7:44519568 | T | C | 1 | a0001c0001t0001g0114 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3136+1197A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519568 | |||||||
chr7:44519648 | G | A | 4 | a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0002t0001g0209 others(1): Show |
4 | HG02886.hp1 HG03927.hp2 NA18942.hp1 others(1): Show |
intron_variant | MODIFIER | c.3136+1117C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519648 | |||||||
chr7:44519672 | G | C | 2 | a0001c0001t0001g0022 a0001c0001t0001g0085 |
3 | HG01074.hp2 HG01981.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.3136+1093C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519672 | |||||||
chr7:44519700 | C | T | 4 | a0001c0001t0001g0060 a0001c0001t0001g0110 a0002c0005t0001g0165 others(1): Show |
4 | HG02109.hp1 HG02622.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.3136+1065G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519700 | |||||||
chr7:44519808 | C | CT | 12 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(9): Show |
16 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(13): Show |
intron_variant | MODIFIER | c.3136+956dupA | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519808 | |||||||
chr7:44519808 | C | CTT | 14 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(11): Show |
17 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.3136+955_3136+956d others(4): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519808 | |||||||
chr7:44519812 | C | T | 40 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(37): Show |
50 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.3136+953G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519812 | |||||||
chr7:44519917 | C | T | 1 | a0001c0002t0001g0200 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.3136+848G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44519917 | |||||||
chr7:44520073 | A | C | 1 | a0001c0001t0001g0116 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.3136+692T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520073 | |||||||
chr7:44520096 | G | A | 13 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(10): Show |
16 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.3136+669C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520096 | |||||||
chr7:44520118 | G | A | 2 | a0001c0024t0001g0149 a0001c0036t0001g0205 |
2 | HG02647.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.3136+647C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520118 | |||||||
chr7:44520146 | G | C | 2 | a0006c0017t0003g0044 a0016c0041t0001g0218 |
3 | HG02486.hp1 HG02622.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.3136+619C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520146 | |||||||
chr7:44520204 | C | T | 12 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(9): Show |
16 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(13): Show |
intron_variant | MODIFIER | c.3136+561G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520204 | |||||||
chr7:44520275 | G | A | 2 | a0001c0002t0001g0206 a0001c0002t0001g0207 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.3136+490C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520275 | |||||||
chr7:44520302 | C | T | 1 | a0015c0044t0001g0221 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3136+463G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520302 | |||||||
chr7:44520707 | C | T | 1 | a0006c0017t0003g0044 | 2 | HG02486.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.3136+58G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 14/18 | chr7 | 44520707 | |||||||
chr7:44520983 | C | T | 4 | a0001c0024t0001g0149 a0001c0036t0001g0205 a0004c0010t0001g0035 others(1): Show |
5 | HG01884.hp2 HG02647.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.3080+9G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 13/18 | chr7 | 44520983 | |||||||
chr7:44521152 | C | A | 1 | a0001c0002t0004g0046 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.2954-34G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 12/18 | chr7 | 44521152 | |||||||
chr7:44521594 | G | A | 1 | a0001c0001t0001g0145 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2953+118C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 12/18 | chr7 | 44521594 | |||||||
chr7:44521612 | C | T | 2 | a0001c0001t0001g0025 a0001c0002t0001g0183 |
3 | HG02257.hp2 HG02572.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2953+100G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 12/18 | chr7 | 44521612 | |||||||
chr7:44522001 | A | G | 39 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(36): Show |
48 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(45): Show |
intron_variant | MODIFIER | c.2828+51T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 11/18 | chr7 | 44522001 | |||||||
chr7:44522036 | C | T | 5 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0084 others(2): Show |
8 | HG00323.hp2 HG01074.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2828+16G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 11/18 | chr7 | 44522036 | |||||||
chr7:44522285 | C | T | 42 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(39): Show |
56 | HG00597.hp1 HG00609.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.2638-43G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522285 | |||||||
chr7:44522302 | A | C | 40 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0108 others(37): Show |
49 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.2638-60T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522302 | |||||||
chr7:44522592 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2638-350T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522592 | |||||||
chr7:44522666 | A | T | 2 | a0001c0024t0001g0149 a0001c0036t0001g0205 |
2 | HG02647.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.2638-424T>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522666 | |||||||
chr7:44522927 | C | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0123 |
2 | NA18964.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.2638-685G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522927 | |||||||
chr7:44522996 | G | A | 8 | a0001c0024t0001g0149 a0001c0035t0001g0208 a0001c0036t0001g0205 others(5): Show |
8 | HG00741.hp2 HG01433.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2638-754C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44522996 | |||||||
chr7:44523055 | T | TTTTTG | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2638-818_2638-814d others(7): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523055 | |||||||
chr7:44523338 | G | A | 1 | a0001c0002t0001g0040 | 2 | NA18955.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.2638-1096C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523338 | |||||||
chr7:44523364 | C | T | 1 | a0001c0025t0001g0141 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2638-1122G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523364 | |||||||
chr7:44523488 | C | T | 1 | a0001c0001t0001g0107 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2638-1246G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523488 | |||||||
chr7:44523607 | T | C | 1 | a0016c0041t0001g0218 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2638-1365A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523607 | |||||||
chr7:44523685 | G | A | 15 | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0106 others(12): Show |
20 | HG00639.hp2 HG01884.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.2638-1443C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523685 | |||||||
chr7:44523731 | G | T | 1 | a0001c0001t0001g0096 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2638-1489C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523731 | |||||||
chr7:44523754 | C | A | 1 | a0001c0001t0001g0088 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2638-1512G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523754 | |||||||
chr7:44523883 | A | G | 1 | a0001c0001t0001g0127 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2638-1641T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523883 | |||||||
chr7:44523956 | C | G | 4 | a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0179 others(1): Show |
6 | HG01496.hp2 HG01978.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.2638-1714G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523956 | |||||||
chr7:44523956 | C | T | 25 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(22): Show |
32 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(29): Show |
intron_variant | MODIFIER | c.2638-1714G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523956 | |||||||
chr7:44523969 | A | T | 37 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(34): Show |
46 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.2638-1727T>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523969 | |||||||
chr7:44523985 | C | T | 8 | a0001c0024t0001g0149 a0001c0035t0001g0208 a0001c0036t0001g0205 others(5): Show |
8 | HG00741.hp2 HG01433.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2638-1743G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44523985 | |||||||
chr7:44524185 | C | T | 1 | a0001c0001t0001g0075 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.2638-1943G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44524185 | |||||||
chr7:44524513 | A | G | 7 | a0001c0035t0001g0208 a0002c0031t0008g0162 a0003c0009t0003g0214 others(4): Show |
7 | HG00741.hp2 HG01433.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2638-2271T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44524513 | |||||||
chr7:44524559 | A | G | 1 | a0006c0017t0003g0044 | 2 | HG02486.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.2638-2317T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44524559 | |||||||
chr7:44524745 | A | G | 2 | a0001c0001t0001g0125 a0001c0001t0001g0126 |
2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.2638-2503T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44524745 | |||||||
chr7:44525000 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2638-2758C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525000 | |||||||
chr7:44525057 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2638-2815C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525057 | |||||||
chr7:44525136 | T | C | 28 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(25): Show |
38 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(35): Show |
intron_variant | MODIFIER | c.2638-2894A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525136 | |||||||
chr7:44525267 | T | A | 2 | a0001c0001t0001g0119 a0013c0038t0001g0212 |
2 | HG02818.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2638-3025A>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525267 | |||||||
chr7:44525313 | A | G | 1 | a0001c0001t0001g0082 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2638-3071T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525313 | |||||||
chr7:44525563 | A | G | 7 | a0001c0035t0001g0208 a0002c0031t0008g0162 a0003c0009t0003g0214 others(4): Show |
7 | HG00741.hp2 HG01433.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2638-3321T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525563 | |||||||
chr7:44525604 | G | A | 1 | a0001c0001t0001g0143 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2638-3362C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525604 | |||||||
chr7:44525746 | T | C | 1 | a0002c0031t0008g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2638-3504A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525746 | |||||||
chr7:44525865 | G | A | 37 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(34): Show |
46 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(43): Show |
intron_variant | MODIFIER | c.2638-3623C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525865 | |||||||
chr7:44525895 | A | G | 25 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(22): Show |
34 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(31): Show |
intron_variant | MODIFIER | c.2638-3653T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44525895 | |||||||
chr7:44526071 | C | A | 3 | a0001c0003t0002g0015 a0001c0003t0002g0018 a0001c0003t0002g0055 |
5 | HG00438.hp1 HG01358.hp1 HG04184.hp2 others(2): Show |
intron_variant | MODIFIER | c.2638-3829G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526071 | |||||||
chr7:44526091 | G | A | 3 | a0002c0005t0001g0163 a0002c0029t0003g0059 a0014c0022t0001g0062 |
3 | HG02965.hp2 HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2638-3849C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526091 | |||||||
chr7:44526162 | T | A | 1 | a0001c0001t0001g0145 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2638-3920A>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526162 | |||||||
chr7:44526213 | T | G | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2638-3971A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526213 | |||||||
chr7:44526344 | T | C | 1 | a0001c0001t0001g0075 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.2638-4102A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526344 | |||||||
chr7:44526495 | G | C | 25 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(22): Show |
34 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(31): Show |
intron_variant | MODIFIER | c.2638-4253C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526495 | |||||||
chr7:44526512 | G | A | 9 | a0001c0024t0001g0149 a0001c0035t0001g0208 a0001c0036t0001g0205 others(6): Show |
9 | HG00741.hp2 HG01433.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.2638-4270C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526512 | |||||||
chr7:44526546 | C | CA | 9 | a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0123 others(6): Show |
9 | HG00438.hp2 HG02056.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.2638-4305dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(4): Show |
1 | a0002c0031t0008g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2638-4315_2638-430 others(15): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(7): Show |
1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2638-4318_2638-430 others(18): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(8): Show |
1 | a0014c0022t0001g0062 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2638-4319_2638-430 others(19): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(11): Show |
1 | a0002c0005t0001g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2638-4322_2638-430 others(22): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(17): Show |
1 | a0001c0035t0001g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2638-4305_2638-430 others(28): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(18): Show |
3 | a0003c0009t0003g0214 a0003c0009t0003g0215 a0003c0039t0001g0213 |
3 | HG00741.hp2 HG01433.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2638-4305_2638-430 others(29): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(21): Show |
1 | a0003c0009t0003g0216 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2638-4305_2638-430 others(32): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | C | CAAAAAAA others(23): Show |
1 | a0016c0041t0001g0218 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2638-4305_2638-430 others(34): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | CA | C | 18 | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show |
22 | HG00639.hp2 HG01081.hp2 HG02040.hp2 others(19): Show |
intron_variant | MODIFIER | c.2638-4305delT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526546 | CAAA | C | 11 | a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0018 others(8): Show |
15 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(12): Show |
intron_variant | MODIFIER | c.2638-4307_2638-430 others(7): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526546 | |||||||
chr7:44526682 | C | G | 4 | a0001c0008t0004g0052 a0001c0008t0004g0053 a0001c0008t0004g0054 others(1): Show |
4 | HG01358.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2638-4440G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526682 | |||||||
chr7:44526763 | C | T | 1 | a0001c0002t0001g0180 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2638-4521G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44526763 | |||||||
chr7:44527318 | C | T | 2 | a0001c0001t0001g0099 a0001c0001t0001g0146 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2637+4437G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527318 | |||||||
chr7:44527411 | C | G | 1 | a0001c0001t0001g0144 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2637+4344G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527411 | |||||||
chr7:44527461 | C | CA | 47 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0029 others(44): Show |
61 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.2637+4293dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527461 | C | CAA | 26 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0033 others(23): Show |
35 | HG00280.hp2 HG00597.hp1 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.2637+4292_2637+429 others(6): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527461 | C | CAAA | 9 | a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0092 others(6): Show |
12 | HG00609.hp1 HG01168.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.2637+4291_2637+429 others(7): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527461 | CA | C | 14 | a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0069 others(11): Show |
19 | HG00738.hp1 HG01070.hp1 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.2637+4293delT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527461 | CAAAAAAA others(3): Show |
C | 7 | a0001c0035t0001g0208 a0002c0031t0008g0162 a0003c0009t0003g0214 others(4): Show |
7 | HG00741.hp2 HG01433.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.2637+4284_2637+429 others(14): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527461 | CAAAAAAA others(4): Show |
C | 1 | a0014c0022t0001g0062 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2637+4283_2637+429 others(15): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527461 | |||||||
chr7:44527647 | C | T | 26 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(23): Show |
35 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(32): Show |
intron_variant | MODIFIER | c.2637+4108G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527647 | |||||||
chr7:44527870 | G | A | 1 | a0001c0001t0001g0130 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2637+3885C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527870 | |||||||
chr7:44527888 | G | A | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2637+3867C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527888 | |||||||
chr7:44527901 | T | C | 13 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(10): Show |
18 | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.2637+3854A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44527901 | |||||||
chr7:44528047 | C | A | 25 | a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0125 others(22): Show |
34 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(31): Show |
intron_variant | MODIFIER | c.2637+3708G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528047 | |||||||
chr7:44528252 | G | A | 1 | a0002c0005t0001g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2637+3503C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528252 | |||||||
chr7:44528440 | G | C | 4 | a0001c0001t0001g0140 a0001c0002t0001g0180 a0001c0002t0001g0202 others(1): Show |
4 | HG00408.hp1 HG02040.hp1 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.2637+3315C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528440 | |||||||
chr7:44528762 | C | T | 4 | a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0101 others(1): Show |
8 | HG00423.hp2 HG00673.hp1 HG02155.hp2 others(5): Show |
intron_variant | MODIFIER | c.2637+2993G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528762 | |||||||
chr7:44528782 | A | C | 1 | a0001c0002t0004g0049 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2637+2973T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528782 | |||||||
chr7:44528797 | G | A | 2 | a0001c0001t0001g0091 a0020c0023t0001g0066 |
2 | HG03669.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.2637+2958C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44528797 | |||||||
chr7:44529070 | C | CA | 11 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0092 others(8): Show |
19 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(16): Show |
intron_variant | MODIFIER | c.2637+2684dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529070 | |||||||
chr7:44529109 | AAACACAC | A | 6 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0078 others(3): Show |
6 | HG00423.hp2 HG00642.hp1 HG01934.hp1 others(3): Show |
intron_variant | MODIFIER | c.2637+2639_2637+264 others(11): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529109 | |||||||
chr7:44529110 | AAC | A | 6 | a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0006g0128 others(3): Show |
6 | HG02572.hp1 HG02965.hp2 HG06807.hp1 others(3): Show |
intron_variant | MODIFIER | c.2637+2643_2637+264 others(6): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACAC | A | 21 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(18): Show |
26 | HG00423.hp1 HG01106.hp2 HG02080.hp1 others(23): Show |
intron_variant | MODIFIER | c.2637+2641_2637+264 others(8): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACAC | A | 26 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0019 others(23): Show |
31 | HG00558.hp2 HG00609.hp1 HG00741.hp1 others(28): Show |
intron_variant | MODIFIER | c.2637+2639_2637+264 others(10): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(1): Show |
A | 100 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(97): Show |
133 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.2637+2637_2637+264 others(12): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(3): Show |
A | 38 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(35): Show |
43 | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.2637+2635_2637+264 others(14): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(5): Show |
A | 23 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0081 others(20): Show |
24 | HG00558.hp1 HG00741.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.2637+2633_2637+264 others(16): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(7): Show |
A | 9 | a0001c0001t0001g0001 a0001c0001t0001g0117 a0001c0001t0001g0160 others(6): Show |
11 | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(8): Show |
intron_variant | MODIFIER | c.2637+2631_2637+264 others(18): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(9): Show |
A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0157 a0016c0041t0001g0218 |
4 | HG01175.hp2 HG03471.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.2637+2629_2637+264 others(20): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(11): Show |
A | 7 | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0073 others(4): Show |
8 | HG00280.hp1 HG00735.hp2 HG01074.hp1 others(5): Show |
intron_variant | MODIFIER | c.2637+2627_2637+264 others(22): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(13): Show |
A | 8 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0105 others(5): Show |
14 | HG00323.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.2637+2625_2637+264 others(24): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(15): Show |
A | 2 | a0001c0001t0001g0076 a0002c0005t0001g0163 |
2 | HG03195.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.2637+2623_2637+264 others(26): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(17): Show |
A | 1 | a0006c0017t0003g0044 | 2 | HG02486.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.2637+2621_2637+264 others(28): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529110 | AACACACA others(27): Show |
A | 1 | a0001c0002t0001g0007 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2637+2611_2637+264 others(38): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529110 | |||||||
chr7:44529381 | C | CT | 13 | a0001c0002t0001g0194 a0001c0024t0001g0149 a0001c0035t0001g0208 others(10): Show |
14 | HG00741.hp2 HG01433.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2637+2373dupA | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529381 | |||||||
chr7:44529402 | G | A | 2 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | HG00741.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.2637+2353C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529402 | |||||||
chr7:44529440 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2637+2315C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529440 | |||||||
chr7:44529444 | T | C | 2 | a0001c0002t0001g0191 a0001c0002t0001g0192 |
2 | HG02080.hp2 HG02129.hp2 |
intron_variant | MODIFIER | c.2637+2311A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529444 | |||||||
chr7:44529478 | A | C | 10 | a0001c0024t0001g0149 a0001c0035t0001g0208 a0001c0036t0001g0205 others(7): Show |
11 | HG00741.hp2 HG01433.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.2637+2277T>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529478 | |||||||
chr7:44529614 | G | A | 1 | a0001c0002t0001g0193 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.2637+2141C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529614 | |||||||
chr7:44529800 | G | C | 42 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(39): Show |
50 | HG00280.hp1 HG00438.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.2637+1955C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529800 | |||||||
chr7:44529810 | C | A | 1 | a0001c0001t0001g0129 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2637+1945G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529810 | |||||||
chr7:44529935 | G | T | 8 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(5): Show |
9 | HG02055.hp1 HG02486.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2637+1820C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529935 | |||||||
chr7:44529942 | G | A | 1 | a0001c0002t0001g0041 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.2637+1813C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529942 | |||||||
chr7:44529983 | G | A | 2 | a0001c0002t0001g0206 a0001c0002t0001g0207 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2637+1772C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44529983 | |||||||
chr7:44530033 | C | CA | 22 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(19): Show |
23 | HG00741.hp2 HG01433.hp2 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.2637+1721dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530033 | |||||||
chr7:44530085 | C | T | 2 | a0011c0043t0001g0220 a0014c0022t0001g0062 |
2 | HG02280.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2637+1670G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530085 | |||||||
chr7:44530142 | A | T | 17 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(14): Show |
18 | HG00741.hp2 HG01433.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.2637+1613T>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530142 | |||||||
chr7:44530163 | C | A | 3 | a0001c0001t0001g0033 a0001c0001t0001g0131 a0001c0001t0001g0143 |
4 | NA18940.hp1 NA18982.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.2637+1592G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530163 | |||||||
chr7:44530199 | G | A | 2 | a0011c0043t0001g0220 a0014c0022t0001g0062 |
2 | HG02280.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2637+1556C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530199 | |||||||
chr7:44530262 | C | T | 1 | a0001c0001t0001g0096 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2637+1493G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530262 | |||||||
chr7:44530270 | G | A | 8 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(5): Show |
9 | HG02055.hp1 HG02486.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2637+1485C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530270 | |||||||
chr7:44530359 | A | T | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2637+1396T>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530359 | |||||||
chr7:44530468 | T | C | 23 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 others(20): Show |
31 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.2637+1287A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530468 | |||||||
chr7:44530840 | C | T | 8 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(5): Show |
9 | HG02055.hp1 HG02486.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2637+915G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44530840 | |||||||
chr7:44531016 | C | T | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2637+739G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531016 | |||||||
chr7:44531021 | C | T | 1 | a0001c0001t0001g0132 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2637+734G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531021 | |||||||
chr7:44531110 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2637+645G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531110 | |||||||
chr7:44531118 | C | A | 15 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0157 others(12): Show |
19 | HG00280.hp1 HG00438.hp1 HG01168.hp2 others(16): Show |
intron_variant | MODIFIER | c.2637+637G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531118 | |||||||
chr7:44531250 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2637+505G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531250 | |||||||
chr7:44531384 | G | A | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2637+371C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531384 | |||||||
chr7:44531385 | G | A | 18 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(15): Show |
19 | HG00741.hp2 HG01433.hp2 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.2637+370C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531385 | |||||||
chr7:44531457 | G | T | 1 | a0001c0001t0001g0100 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2637+298C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531457 | |||||||
chr7:44531540 | T | C | 2 | a0011c0043t0001g0220 a0014c0022t0001g0062 |
2 | HG02280.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2637+215A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 10/18 | chr7 | 44531540 | |||||||
chr7:44531861 | T | G | 43 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show |
66 | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.2548-17A>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 9/18 | chr7 | 44531861 | |||||||
chr7:44532029 | C | T | 8 | a0001c0001t0001g0034 a0001c0001t0001g0096 a0001c0001t0001g0097 others(5): Show |
9 | HG01106.hp2 HG01168.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.2547+51G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 9/18 | chr7 | 44532029 | |||||||
chr7:44532058 | G | A | 13 | a0001c0001t0001g0073 a0001c0002t0001g0209 a0001c0002t0004g0050 others(10): Show |
17 | HG00280.hp1 HG00438.hp1 HG01168.hp2 others(14): Show |
intron_variant | MODIFIER | c.2547+22C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 9/18 | chr7 | 44532058 | |||||||
chr7:44532236 | C | A | 1 | a0001c0001t0001g0223 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2410-19G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44532236 | |||||||
chr7:44532521 | C | T | 19 | a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0090 others(16): Show |
37 | HG00558.hp1 HG00673.hp2 HG01496.hp2 others(34): Show |
intron_variant | MODIFIER | c.2410-304G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44532521 | |||||||
chr7:44532747 | T | C | 1 | a0001c0003t0002g0057 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2410-530A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44532747 | |||||||
chr7:44532959 | C | T | 22 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 others(19): Show |
29 | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.2409+472G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44532959 | |||||||
chr7:44533030 | C | T | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2409+401G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44533030 | |||||||
chr7:44533100 | C | T | 2 | a0001c0001t0001g0077 a0001c0001t0001g0078 |
2 | HG00642.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.2409+331G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44533100 | |||||||
chr7:44533235 | A | T | 2 | a0011c0043t0001g0220 a0014c0022t0001g0062 |
2 | HG02280.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2409+196T>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44533235 | |||||||
chr7:44533308 | C | A | 3 | a0001c0002t0001g0014 a0001c0002t0001g0206 a0001c0002t0001g0207 |
5 | HG02717.hp2 HG02970.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2409+123G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 8/18 | chr7 | 44533308 | |||||||
chr7:44533711 | C | T | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2281+28G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 7/18 | chr7 | 44533711 | |||||||
chr7:44534096 | C | T | 5 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(2): Show |
5 | HG02922.hp1 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2167-243G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534096 | |||||||
chr7:44534161 | C | T | 12 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(9): Show |
13 | HG00741.hp2 HG01433.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.2166+286G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534161 | |||||||
chr7:44534162 | C | G | 42 | a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 others(39): Show |
52 | HG00280.hp1 HG00438.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.2166+285G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534162 | |||||||
chr7:44534194 | G | T | 1 | a0001c0001t0001g0076 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2166+253C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534194 | |||||||
chr7:44534326 | G | A | 3 | a0002c0029t0003g0059 a0011c0043t0001g0220 a0014c0022t0001g0062 |
3 | HG02280.hp1 HG02965.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2166+121C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534326 | |||||||
chr7:44534367 | G | A | 10 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0009g0151 others(7): Show |
12 | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.2166+80C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 6/18 | chr7 | 44534367 | |||||||
chr7:44534701 | CCAGA | C | 3 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 |
3 | HG02922.hp1 HG02976.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1984-76_1984-73del others(4): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44534701 | |||||||
chr7:44534810 | C | T | 4 | a0002c0029t0003g0059 a0004c0007t0003g0008 a0011c0043t0001g0220 others(1): Show |
6 | HG02257.hp1 HG02280.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1984-181G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44534810 | |||||||
chr7:44534811 | C | T | 4 | a0002c0029t0003g0059 a0004c0007t0003g0008 a0011c0043t0001g0220 others(1): Show |
6 | HG02257.hp1 HG02280.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1984-182G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44534811 | |||||||
chr7:44535053 | C | T | 7 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0009g0151 others(4): Show |
8 | HG01884.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1984-424G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535053 | |||||||
chr7:44535078 | C | A | 20 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0009g0151 others(17): Show |
24 | HG00741.hp2 HG01433.hp2 HG01884.hp2 others(21): Show |
intron_variant | MODIFIER | c.1984-449G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535078 | |||||||
chr7:44535115 | A | G | 1 | a0001c0001t0001g0075 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.1984-486T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535115 | |||||||
chr7:44535139 | G | A | 1 | a0003c0040t0001g0217 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1984-510C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535139 | |||||||
chr7:44535140 | C | A | 1 | a0003c0040t0001g0217 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1984-511G>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535140 | |||||||
chr7:44535141 | G | A | 4 | a0001c0002t0001g0014 a0001c0002t0001g0204 a0001c0002t0001g0206 others(1): Show |
6 | HG02717.hp2 HG02970.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1984-512C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535141 | |||||||
chr7:44535275 | C | G | 42 | a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 others(39): Show |
52 | HG00280.hp1 HG00438.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.1983+565G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535275 | |||||||
chr7:44535291 | G | C | 1 | a0001c0001t0001g0144 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1983+549C>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535291 | |||||||
chr7:44535319 | G | A | 1 | a0006c0017t0003g0044 | 2 | HG02486.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.1983+521C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535319 | |||||||
chr7:44535320 | C | T | 1 | a0001c0001t0001g0068 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1983+520G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535320 | |||||||
chr7:44535324 | G | A | 10 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0009g0151 others(7): Show |
12 | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.1983+516C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535324 | |||||||
chr7:44535364 | C | CA | 6 | a0001c0001t0001g0034 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show |
7 | HG01169.hp2 HG01243.hp2 HG01358.hp2 others(4): Show |
intron_variant | MODIFIER | c.1983+475dupT | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535364 | |||||||
chr7:44535427 | G | A | 4 | a0002c0029t0003g0059 a0004c0007t0003g0008 a0011c0043t0001g0220 others(1): Show |
6 | HG02257.hp1 HG02280.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1983+413C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535427 | |||||||
chr7:44535437 | G | A | 7 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0009g0151 others(4): Show |
8 | HG01884.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1983+403C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535437 | |||||||
chr7:44535714 | G | A | 2 | a0001c0001t0001g0036 a0001c0001t0001g0152 |
3 | HG00642.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1983+126C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 5/18 | chr7 | 44535714 | |||||||
chr7:44536065 | G | T | 2 | a0001c0001t0001g0020 a0001c0001t0001g0067 |
3 | HG01071.hp2 HG01106.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1855-97C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 4/18 | chr7 | 44536065 | |||||||
chr7:44536585 | CTCCTACA others(7): Show |
C | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1682-171_1682-158d others(16): Show |
NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 3/18 | chr7 | 44536585 | |||||||
chr7:44536646 | A | G | 1 | a0001c0001t0001g0065 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1681+196T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 3/18 | chr7 | 44536646 | |||||||
chr7:44536790 | T | C | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1681+52A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 3/18 | chr7 | 44536790 | |||||||
chr7:44537238 | G | A | 1 | a0001c0002t0001g0222 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1581-296C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537238 | |||||||
chr7:44537434 | G | A | 2 | a0001c0002t0001g0206 a0001c0002t0001g0207 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1581-492C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537434 | |||||||
chr7:44537562 | C | T | 1 | a0001c0002t0004g0045 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1581-620G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537562 | |||||||
chr7:44537570 | C | T | 2 | a0002c0031t0008g0162 a0004c0007t0003g0008 |
4 | HG02257.hp1 NA18522.hp2 NA21309.hp1 others(1): Show |
intron_variant | MODIFIER | c.1581-628G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537570 | |||||||
chr7:44537571 | G | A | 1 | a0001c0035t0001g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1581-629C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537571 | |||||||
chr7:44537610 | C | G | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1581-668G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537610 | |||||||
chr7:44537635 | T | C | 1 | a0001c0001t0001g0153 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1581-693A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537635 | |||||||
chr7:44537723 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1581-781G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537723 | |||||||
chr7:44537743 | C | T | 1 | a0001c0001t0001g0063 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1581-801G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537743 | |||||||
chr7:44537801 | G | A | 1 | a0001c0035t0001g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1581-859C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537801 | |||||||
chr7:44537939 | C | T | 1 | a0005c0016t0001g0169 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1580+878G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537939 | |||||||
chr7:44537970 | G | A | 3 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 |
3 | HG00099.hp2 HG00741.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.1580+847C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44537970 | |||||||
chr7:44538023 | G | A | 14 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(11): Show |
17 | HG00280.hp1 HG00438.hp1 HG01168.hp2 others(14): Show |
intron_variant | MODIFIER | c.1580+794C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44538023 | |||||||
chr7:44538048 | G | T | 1 | a0004c0007t0003g0008 | 3 | HG02257.hp1 NA18522.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1580+769C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44538048 | |||||||
chr7:44538117 | G | T | 1 | a0001c0001t0001g0019 | 2 | HG01496.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1580+700C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44538117 | |||||||
chr7:44538124 | G | T | 2 | a0001c0002t0001g0171 a0001c0002t0001g0172 |
2 | HG02109.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.1580+693C>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44538124 | |||||||
chr7:44538566 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1580+251C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 2/18 | chr7 | 44538566 | |||||||
chr7:44540869 | T | C | 1 | a0001c0002t0001g0222 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.54+337A>G | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/18 | chr7 | 44540869 | |||||||
chr7:44541079 | A | G | 1 | a0001c0001t0001g0060 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.54+127T>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/18 | chr7 | 44541079 | |||||||
chr7:44541085 | C | G | 1 | a0002c0029t0003g0059 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.54+121G>C | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/18 | chr7 | 44541085 | |||||||
chr7:44541142 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.54+64G>A | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/18 | chr7 | 44541142 | |||||||
chr7:44541173 | G | A | 1 | a0001c0001t0001g0223 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.54+33C>T | NPC1L1 | ENSG00000015520.15 | transcript | ENST00000381160.8 | protein_coding | 1/18 | chr7 | 44541173 |