Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 55997 |
| ensemblid | ENSG00000136698.10 |
| hgncid | 18292 |
| symbol | CFC1 |
| name | cripto, FRL-1, cryptic family 1 |
| refseq_nuc | NM_032545.4 |
| refseq_prot | NP_115934.1 |
| ensembl_nuc | ENST00000259216.6 |
| ensembl_prot | ENSP00000259216.5 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 130592165 |
| end | 130599575 |
| strand | - |
| ver | v1.2 |
| region | chr2:130592165-130599575 |
| region5000 | chr2:130587165-130604575 |
| regionname0 | CFC1_chr2_130592165_130599575 |
| regionname5000 | CFC1_chr2_130587165_130604575 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 223 | 227 | 28 | 38 | 126 | 9 | 26 | 98 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0002 | 0/0 | 223 | 4 | 0 | 2 | 1 | 1 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0003 | 0/0 | 223 | 3 | 1 | 2 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0004 | 0/0 | 223 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0005 | 0/0 | 223 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0006 | 0/0 | 223 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0007 | 0/0 | 223 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| a0008 | 0/0 | 223 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | MTWRH others(218): Show |
chr2 | 130587165 | 130604575 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 669 | 218 | 24 | 38 | 121 | 9 | 26 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0004 | 0/0 | 669 | 3 | 3 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0005 | 0/0 | 669 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0009 | 0/0 | 669 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0011 | 0/0 | 669 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0012 | 0/0 | 669 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0001c0014 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0002c0002 | 0/0 | 669 | 4 | 0 | 2 | 1 | 1 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0003c0003 | 0/0 | 669 | 3 | 1 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0004c0006 | 0/0 | 669 | 2 | 0 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0005c0007 | 0/0 | 669 | 2 | 1 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0006c0008 | 0/0 | 669 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0007c0013 | 0/0 | 669 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 | ||
| a0008c0010 | 0/0 | 669 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | ATGAC others(664): Show |
chr2 | 130587165 | 130604575 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1672 | 211 | 22 | 37 | 117 | 9 | 26 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0002 | 0/0 | 1672 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0004 | 0/0 | 1672 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0006 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0007 | 0/0 | 1672 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0008 | 0/0 | 1672 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0001t0009 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0004t0002 | 0/0 | 1672 | 3 | 3 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0005t0001 | 0/0 | 1672 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0009t0001 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0011t0001 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0012t0001 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0001c0014t0001 | 0/0 | 1672 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0002c0002t0002 | 0/0 | 1672 | 4 | 0 | 2 | 1 | 1 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0003c0003t0002 | 0/0 | 1672 | 3 | 1 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0004c0006t0001 | 0/0 | 1672 | 2 | 0 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0005c0007t0005 | 0/0 | 1672 | 2 | 1 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0006c0008t0003 | 0/0 | 1672 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0007c0013t0001 | 0/0 | 1672 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| a0008c0010t0001 | 0/0 | 1672 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | AGTCC others(1667): Show |
chr2 | 130587165 | 130604575 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 128 | 12 | 28 | 61 | 7 | 20 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0002 | 0/0 | 24 | 3 | 3 | 17 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0003 | 0/0 | 10 | 0 | 0 | 9 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0004 | 0/0 | 10 | 0 | 0 | 8 | 0 | 2 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0005 | 0/0 | 7 | 3 | 0 | 3 | 1 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0006 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0015 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0004g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0006g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0007g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0008g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0001t0009g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0004t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0004t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0004t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0005t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0009t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0011t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0012t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0001c0014t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0002c0002t0002g0007 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0002c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0003c0003t0002g0008 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0003c0003t0002g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0004c0006t0001g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0005c0007t0005g0017 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0006c0008t0003g0009 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0007c0013t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| a0008c0010t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01069 | hp1 | a0002 | c0002 | t0002 | g0007 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01069 | hp2 | a0004 | c0006 | t0001 | g0012 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01071 | hp2 | a0004 | c0006 | t0001 | g0012 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01106 | hp1 | a0002 | c0002 | t0002 | g0007 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01169 | hp2 | a0007 | c0013 | t0001 | g0039 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01175 | hp1 | a0003 | c0003 | t0002 | g0008 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0036 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01243 | hp1 | a0003 | c0003 | t0002 | g0019 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01257 | hp2 | a0005 | c0007 | t0005 | g0017 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0038 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01517 | hp1 | a0002 | c0002 | t0002 | g0044 | EUR | IBS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CDX | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0046 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02622 | hp2 | a0005 | c0007 | t0005 | g0017 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02895 | hp2 | a0006 | c0008 | t0003 | g0009 | AFR | GWD | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02970 | hp1 | a0001 | c0001 | t0007 | g0047 | AFR | ESN | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02970 | hp2 | a0001 | c0014 | t0001 | g0049 | AFR | ESN | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03098 | hp1 | a0006 | c0008 | t0003 | g0009 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03098 | hp2 | a0001 | c0004 | t0002 | g0021 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ESN | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03139 | hp2 | a0001 | c0004 | t0002 | g0020 | AFR | ESN | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0035 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | CHB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CHB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18981 | hp1 | a0001 | c0005 | t0001 | g0010 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18984 | hp1 | a0001 | c0001 | t0009 | g0051 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19007 | hp2 | a0001 | c0012 | t0001 | g0028 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19010 | hp1 | a0001 | c0001 | t0006 | g0045 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19012 | hp1 | a0001 | c0009 | t0001 | g0018 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19055 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19062 | hp1 | a0002 | c0002 | t0002 | g0007 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19066 | hp2 | a0001 | c0011 | t0001 | g0030 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19078 | hp1 | a0001 | c0001 | t0004 | g0011 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19078 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19082 | hp2 | a0008 | c0010 | t0001 | g0043 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19087 | hp2 | a0001 | c0005 | t0001 | g0010 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA19091 | hp2 | a0001 | c0001 | t0004 | g0011 | EAS | JPT | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20129 | hp1 | a0003 | c0003 | t0002 | g0008 | AFR | ASW | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20129 | hp2 | a0001 | c0001 | t0008 | g0050 | AFR | ASW | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0005 | EUR | TSI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0034 | EUR | TSI | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02486 | hp1 | a0001 | c0004 | t0002 | g0022 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | CFC1_chr2_130587165_130604575 | CFC1 | chr2 | 130587165 | 130604575 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130592918 | G | A | 1 | a0004 | 2 | HG01069.hp2 HG01071.hp2 |
missense_variant | MODERATE | c.631C>T | p.Arg211Trp | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 919/1672 | 631/672 | 211/223 | chr2 | 130592918 | |||
| chr2:130597515 | G | A | 1 | a0007 | 1 | HG01169.hp2 | missense_variant | MODERATE | c.451C>T | p.Leu151Phe | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/6 | 739/1672 | 451/672 | 151/223 | chr2 | 130597515 | |||
| chr2:130597533 | C | T | 1 | a0002 | 4 | HG01069.hp1 HG01106.hp1 HG01517.hp1 others(1): Show |
missense_variant | MODERATE | c.433G>A | p.Ala145Thr | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/6 | 721/1672 | 433/672 | 145/223 | chr2 | 130597533 | |||
| chr2:130597536 | C | G | 1 | a0008 | 1 | NA19082.hp2 | missense_variant | MODERATE | c.430G>C | p.Gly144Arg | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/6 | 718/1672 | 430/672 | 144/223 | chr2 | 130597536 | |||
| chr2:130598749 | C | T | 2 | a0003 a0005 |
5 | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(2): Show |
missense_variant | MODERATE | c.140G>A | p.Arg47Gln | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/6 | 428/1672 | 140/672 | 47/223 | chr2 | 130598749 | |||
| chr2:130598922 | T | G | 2 | a0005 a0006 |
4 | HG01257.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
missense_variant | MODERATE | c.61A>C | p.Asn21His | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 2/6 | 349/1672 | 61/672 | 21/223 | chr2 | 130598922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130592883 | G | T | 1 | a0001c0011 | 1 | NA19066.hp2 | synonymous_variant | LOW | c.666C>A | p.Arg222Arg | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 954/1672 | 666/672 | 222/223 | chr2 | 130592883 | |||
| chr2:130592943 | C | G | 2 | a0001c0004 a0003c0003 |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
synonymous_variant | LOW | c.606G>C | p.Leu202Leu | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 894/1672 | 606/672 | 202/223 | chr2 | 130592943 | |||
| chr2:130592961 | G | T | 2 | a0005c0007 a0006c0008 |
4 | HG01257.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
synonymous_variant | LOW | c.588C>A | p.Pro196Pro | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 876/1672 | 588/672 | 196/223 | chr2 | 130592961 | |||
| chr2:130593057 | G | C | 1 | a0001c0012 | 1 | NA19007.hp2 | synonymous_variant | LOW | c.492C>G | p.Ala164Ala | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 780/1672 | 492/672 | 164/223 | chr2 | 130593057 | |||
| chr2:130598658 | G | A | 1 | a0001c0014 | 1 | HG02970.hp2 | synonymous_variant | LOW | c.231C>T | p.Ser77Ser | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/6 | 519/1672 | 231/672 | 77/223 | chr2 | 130598658 | |||
| chr2:130598920 | A | G | 2 | a0001c0004 a0003c0003 |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
synonymous_variant | LOW | c.63T>C | p.Asn21Asn | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 2/6 | 351/1672 | 63/672 | 21/223 | chr2 | 130598920 | |||
| chr2:130598959 | C | T | 1 | a0001c0005 | 2 | NA18981.hp1 NA19087.hp2 |
splice_region_variant&synonymous_variant | LOW | c.24G>A | p.Arg8Arg | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 2/6 | 312/1672 | 24/672 | 8/223 | chr2 | 130598959 | |||
| chr2:130599270 | A | G | 1 | a0001c0009 | 1 | NA19012.hp1 | synonymous_variant | LOW | c.18T>C | p.His6His | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/6 | 306/1672 | 18/672 | 6/223 | chr2 | 130599270 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130592298 | T | C | 2 | a0005c0007t0005 a0006c0008t0003 |
4 | HG01257.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*579A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 579 | chr2 | 130592298 | ||||||
| chr2:130592299 | A | G | 6 | a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 others(3): Show |
15 | HG01069.hp1 HG01106.hp1 HG01175.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*578T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 578 | chr2 | 130592299 | ||||||
| chr2:130592314 | A | G | 2 | a0005c0007t0005 a0006c0008t0003 |
4 | HG01257.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*563T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 563 | chr2 | 130592314 | ||||||
| chr2:130592326 | G | A | 1 | a0001c0001t0004 | 2 | NA19078.hp1 NA19091.hp2 |
3_prime_UTR_variant | MODIFIER | c.*551C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 551 | chr2 | 130592326 | ||||||
| chr2:130592467 | G | C | 2 | a0001c0001t0007 a0005c0007t0005 |
3 | HG01257.hp2 HG02622.hp2 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*410C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 410 | chr2 | 130592467 | ||||||
| chr2:130592768 | C | G | 1 | a0001c0001t0006 | 1 | NA19010.hp1 | 3_prime_UTR_variant | MODIFIER | c.*109G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 6/6 | 109 | chr2 | 130592768 | ||||||
| chr2:130599297 | G | C | 1 | a0001c0001t0008 | 1 | NA20129.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-10C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/6 | chr2 | 130599297 | |||||||
| chr2:130599526 | G | A | 1 | a0001c0001t0009 | 1 | NA18984.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-239C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/6 | chr2 | 130599526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:130593150 | G | C | 1 | a0001c0001t0001g0024 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.473-74C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593150 | |||||||
| chr2:130593209 | G | A | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.473-133C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593209 | |||||||
| chr2:130593326 | AG | A | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.473-251delC | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593326 | |||||||
| chr2:130593329 | G | T | 1 | a0001c0004t0002g0022 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.473-253C>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593329 | |||||||
| chr2:130593349 | C | T | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.473-273G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593349 | |||||||
| chr2:130593388 | C | T | 1 | a0001c0001t0001g0026 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.473-312G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593388 | |||||||
| chr2:130593465 | G | A | 7 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0004t0002g0020 others(4): Show |
8 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.473-389C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593465 | |||||||
| chr2:130593507 | C | T | 3 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 |
3 | HG02572.hp1 HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.473-431G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593507 | |||||||
| chr2:130593604 | C | T | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.473-528G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593604 | |||||||
| chr2:130593608 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.473-532C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593608 | |||||||
| chr2:130593689 | G | A | 1 | a0001c0001t0001g0027 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.473-613C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593689 | |||||||
| chr2:130593787 | C | T | 3 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 |
3 | HG02572.hp1 HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.473-711G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593787 | |||||||
| chr2:130593822 | G | C | 11 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(8): Show |
43 | HG01069.hp1 HG01106.hp1 HG01169.hp2 others(40): Show |
intron_variant | MODIFIER | c.473-746C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593822 | |||||||
| chr2:130593869 | A | G | 2 | a0001c0001t0001g0006 a0001c0001t0004g0011 |
8 | HG00558.hp2 HG02027.hp1 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.473-793T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593869 | |||||||
| chr2:130593945 | G | A | 1 | a0001c0001t0001g0031 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.473-869C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130593945 | |||||||
| chr2:130594232 | ACC | A | 12 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 others(9): Show |
17 | HG01069.hp1 HG01106.hp1 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.473-1158_473-1157d others(4): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594232 | |||||||
| chr2:130594368 | T | C | 7 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(4): Show |
10 | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(7): Show |
intron_variant | MODIFIER | c.473-1292A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594368 | |||||||
| chr2:130594614 | G | A | 1 | a0001c0001t0001g0032 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.473-1538C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594614 | |||||||
| chr2:130594686 | A | G | 5 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 others(2): Show |
7 | HG01069.hp1 HG01106.hp1 HG01517.hp1 others(4): Show |
intron_variant | MODIFIER | c.473-1610T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594686 | |||||||
| chr2:130594717 | T | G | 1 | a0006c0008t0003g0009 | 2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.473-1641A>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594717 | |||||||
| chr2:130594833 | C | T | 1 | a0001c0001t0001g0025 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.473-1757G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594833 | |||||||
| chr2:130594875 | T | C | 10 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 others(7): Show |
13 | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.473-1799A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130594875 | |||||||
| chr2:130595121 | T | C | 1 | a0001c0001t0001g0033 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.473-2045A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595121 | |||||||
| chr2:130595152 | T | C | 1 | a0001c0001t0001g0013 | 2 | HG02071.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.473-2076A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595152 | |||||||
| chr2:130595287 | A | AT | 3 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 |
3 | HG02572.hp1 HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.472+2206dupA | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595287 | |||||||
| chr2:130595325 | C | T | 6 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(3): Show |
8 | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.472+2169G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595325 | |||||||
| chr2:130595381 | G | A | 1 | a0001c0001t0001g0034 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.472+2113C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595381 | |||||||
| chr2:130595414 | A | T | 9 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 others(6): Show |
41 | HG00438.hp1 HG01169.hp2 HG01261.hp2 others(38): Show |
intron_variant | MODIFIER | c.472+2080T>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595414 | |||||||
| chr2:130595469 | C | G | 3 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 |
3 | HG02572.hp1 HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.472+2025G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595469 | |||||||
| chr2:130595559 | G | A | 1 | a0001c0001t0001g0014 | 2 | NA19065.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.472+1935C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595559 | |||||||
| chr2:130595587 | A | G | 2 | a0002c0002t0002g0007 a0002c0002t0002g0044 |
4 | HG01069.hp1 HG01106.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.472+1907T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130595587 | |||||||
| chr2:130596512 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.472+982C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596512 | |||||||
| chr2:130596518 | C | G | 7 | a0001c0001t0001g0046 a0001c0004t0002g0020 a0001c0004t0002g0021 others(4): Show |
10 | HG01069.hp1 HG01106.hp1 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.472+976G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596518 | |||||||
| chr2:130596518 | C | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0002g0038 |
4 | HG01175.hp2 HG01346.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.472+976G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596518 | |||||||
| chr2:130596598 | G | A | 1 | a0001c0004t0002g0021 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.472+896C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596598 | |||||||
| chr2:130596741 | T | C | 2 | a0002c0002t0002g0007 a0002c0002t0002g0044 |
4 | HG01069.hp1 HG01106.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.472+753A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596741 | |||||||
| chr2:130596803 | G | C | 1 | a0001c0001t0001g0036 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.472+691C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596803 | |||||||
| chr2:130596813 | A | C | 2 | a0003c0003t0002g0008 a0003c0003t0002g0019 |
3 | HG01175.hp1 HG01243.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.472+681T>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596813 | |||||||
| chr2:130596853 | G | A | 1 | a0001c0001t0001g0037 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.472+641C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596853 | |||||||
| chr2:130596952 | G | A | 10 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0007g0047 others(7): Show |
13 | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.472+542C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130596952 | |||||||
| chr2:130597091 | C | A | 1 | a0001c0004t0002g0022 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.472+403G>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130597091 | |||||||
| chr2:130597416 | C | A | 2 | a0001c0001t0001g0015 a0001c0001t0002g0038 |
3 | HG01175.hp2 HG01346.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.472+78G>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130597416 | |||||||
| chr2:130597421 | T | C | 1 | a0006c0008t0003g0009 | 2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.472+73A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 5/5 | chr2 | 130597421 | |||||||
| chr2:130597700 | G | A | 1 | a0001c0001t0001g0016 | 2 | HG02074.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.363-97C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4/5 | chr2 | 130597700 | |||||||
| chr2:130597777 | C | G | 4 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0003c0003t0002g0008 others(1): Show |
5 | HG01175.hp1 HG01243.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.362+91G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4/5 | chr2 | 130597777 | |||||||
| chr2:130598046 | G | C | 1 | a0001c0001t0001g0040 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.248-64C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598046 | |||||||
| chr2:130598139 | C | T | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.248-157G>A | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598139 | |||||||
| chr2:130598140 | A | G | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.248-158T>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598140 | |||||||
| chr2:130598243 | T | C | 1 | a0001c0001t0001g0041 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.248-261A>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598243 | |||||||
| chr2:130598290 | G | C | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.248-308C>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598290 | |||||||
| chr2:130598293 | G | A | 1 | a0005c0007t0005g0017 | 2 | HG01257.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.248-311C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598293 | |||||||
| chr2:130598429 | C | G | 1 | a0001c0001t0001g0023 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.247+213G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598429 | |||||||
| chr2:130598455 | G | A | 17 | a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0048 others(14): Show |
31 | HG00438.hp2 HG01069.hp1 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.247+187C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 3/5 | chr2 | 130598455 | |||||||
| chr2:130598984 | G | A | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
7 | HG01257.hp2 HG02486.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.24-25C>T | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/5 | chr2 | 130598984 | |||||||
| chr2:130599110 | C | G | 1 | a0006c0008t0003g0009 | 2 | HG02895.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.24-151G>C | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/5 | chr2 | 130599110 | |||||||
| chr2:130599160 | A | C | 5 | a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 others(2): Show |
6 | HG01175.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.23+105T>G | CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 1/5 | chr2 | 130599160 |