Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 653149 |
| ensemblid | ENSG00000186086.19 |
| hgncid | 31988 |
| symbol | NBPF6 |
| name | NBPF member 6 |
| refseq_nuc | NM_001143988.2 |
| refseq_prot | NP_001137460.1 |
| ensembl_nuc | ENST00000495380.7 |
| ensembl_prot | ENSP00000417277.2 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 108450343 |
| end | 108471920 |
| strand | + |
| ver | v1.2 |
| region | chr1:108450343-108471920 |
| region5000 | chr1:108445343-108476920 |
| regionname0 | NBPF6_chr1_108450343_108471920 |
| regionname5000 | NBPF6_chr1_108445343_108476920 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 638 | 20 | 7 | 5 | 6 | 0 | 1 | 2 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0002 | 0/1 | 638 | 12 | 6 | 2 | 0 | 1 | 2 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0003 | 0/0 | 638 | 11 | 4 | 1 | 3 | 1 | 2 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0004 | 0/0 | 638 | 9 | 8 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0005 | 0/0 | 638 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0006 | 0/0 | 638 | 4 | 0 | 2 | 1 | 0 | 1 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0007 | 0/0 | 638 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0008 | 0/0 | 638 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0009 | 0/0 | 145 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(140): Show |
chr1 | 108445343 | 108476920 |
| a0010 | 0/0 | 638 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0011 | 0/0 | 638 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0012 | 0/0 | 638 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| a0013 | 0/0 | 638 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | MVVSA others(633): Show |
chr1 | 108445343 | 108476920 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 1914 | 17 | 5 | 4 | 6 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0001c0012 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0001c0013 | 0/0 | 1914 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0001c0018 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0002c0003 | 0/1 | 1914 | 9 | 4 | 2 | 0 | 1 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0002c0007 | 0/0 | 1914 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0002c0016 | 0/0 | 1914 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0003c0002 | 0/0 | 1914 | 10 | 4 | 1 | 2 | 1 | 2 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0003c0017 | 0/0 | 1914 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0004c0004 | 0/0 | 1914 | 8 | 7 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0004c0009 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0005c0005 | 0/0 | 1914 | 5 | 5 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0006c0006 | 0/0 | 1914 | 4 | 0 | 2 | 1 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0007c0020 | 0/0 | 1914 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0008c0015 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0009c0019 | 0/0 | 1903 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1898): Show |
chr1 | 108445343 | 108476920 | ||
| a0010c0014 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0011c0008 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0012c0010 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 | ||
| a0013c0011 | 0/0 | 1914 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ATGGT others(1909): Show |
chr1 | 108445343 | 108476920 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0003 | 0/0 | 3356 | 12 | 3 | 3 | 5 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0001t0004 | 0/0 | 3356 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0001t0006 | 0/0 | 3356 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0001t0007 | 1/0 | 3356 | 2 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0001t0010 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0012t0009 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0013t0006 | 0/0 | 3356 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0001c0018t0002 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0002c0003t0001 | 0/1 | 3356 | 7 | 2 | 2 | 0 | 1 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0002c0003t0012 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0002c0003t0014 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0002c0007t0008 | 0/0 | 3356 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0002c0016t0002 | 0/0 | 3356 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0003c0002t0001 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0003c0002t0002 | 0/0 | 3356 | 8 | 2 | 1 | 2 | 1 | 2 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0003c0002t0016 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0003c0017t0002 | 0/0 | 3356 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0004c0004t0001 | 0/0 | 3356 | 7 | 6 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0004c0004t0013 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0004c0009t0015 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0005c0005t0005 | 0/0 | 3356 | 5 | 5 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0006c0006t0004 | 0/0 | 3356 | 4 | 0 | 2 | 1 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0007c0020t0004 | 0/0 | 3356 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0008c0015t0011 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0009c0019t0002 | 0/0 | 3345 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3340): Show |
chr1 | 108445343 | 108476920 |
| a0010c0014t0001 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0011c0008t0002 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0012c0010t0002 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| a0013c0011t0004 | 0/0 | 3356 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | ACTCT others(3351): Show |
chr1 | 108445343 | 108476920 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0003g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0007 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0009 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0004g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0006g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0007g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0007g0016 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0001t0010g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0012t0009g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0013t0006g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0001c0018t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0004 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0012 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0012g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0003t0014g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0007t0008g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0002c0016t0002g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0002t0016g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0003c0017t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0004t0013g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0004c0009t0015g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0005c0005t0005g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0005c0005t0005g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0005c0005t0005g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0005c0005t0005g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0005c0005t0005g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0006c0006t0004g0008 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0006c0006t0004g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0006c0006t0004g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0007c0020t0004g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0008c0015t0011g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0009c0019t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0010c0014t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0011c0008t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0012c0010t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| a0013c0011t0004g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0003 | c0002 | t0002 | g0032 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG00438 | hp2 | a0001 | c0001 | t0003 | g0006 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG00558 | hp1 | a0003 | c0002 | t0002 | g0029 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG00558 | hp2 | a0006 | c0006 | t0004 | g0008 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG00621 | hp1 | a0001 | c0001 | t0003 | g0009 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG00621 | hp2 | a0001 | c0001 | t0003 | g0055 | EAS | CHS | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01081 | hp1 | a0007 | c0020 | t0004 | g0056 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01081 | hp2 | a0006 | c0006 | t0004 | g0049 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01099 | hp1 | a0002 | c0003 | t0001 | g0043 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01099 | hp2 | a0004 | c0004 | t0001 | g0019 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01169 | hp1 | a0001 | c0001 | t0003 | g0048 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01169 | hp2 | a0001 | c0001 | t0004 | g0047 | AMR | PUR | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01433 | hp1 | a0001 | c0013 | t0006 | g0053 | AMR | CLM | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01433 | hp2 | a0006 | c0006 | t0004 | g0050 | AMR | CLM | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01891 | hp1 | a0001 | c0001 | t0007 | g0003 | AFR | ACB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01891 | hp2 | a0004 | c0004 | t0001 | g0001 | AFR | ACB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01978 | hp1 | a0002 | c0003 | t0001 | g0004 | AMR | PEL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01978 | hp2 | a0001 | c0001 | t0003 | g0052 | AMR | PEL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01981 | hp1 | a0001 | c0001 | t0003 | g0007 | AMR | PEL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG01981 | hp2 | a0003 | c0002 | t0002 | g0033 | AMR | PEL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02630 | hp1 | a0008 | c0015 | t0011 | g0020 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02630 | hp2 | a0004 | c0004 | t0001 | g0017 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02717 | hp1 | a0005 | c0005 | t0005 | g0038 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02717 | hp2 | a0002 | c0007 | t0008 | g0005 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02735 | hp1 | a0002 | c0003 | t0001 | g0014 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02735 | hp2 | a0006 | c0006 | t0004 | g0008 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02818 | hp1 | a0003 | c0002 | t0016 | g0013 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02818 | hp2 | a0004 | c0004 | t0001 | g0023 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02896 | hp1 | a0003 | c0002 | t0002 | g0025 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02896 | hp2 | a0009 | c0019 | t0002 | g0051 | AFR | GWD | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0046 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02922 | hp2 | a0001 | c0001 | t0003 | g0002 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03017 | hp1 | a0002 | c0016 | t0002 | g0042 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03017 | hp2 | a0003 | c0002 | t0002 | g0036 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03139 | hp1 | a0004 | c0004 | t0013 | g0001 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03139 | hp2 | a0010 | c0014 | t0001 | g0018 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03195 | hp1 | a0001 | c0012 | t0009 | g0057 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03195 | hp2 | a0001 | c0018 | t0002 | g0002 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03209 | hp1 | a0003 | c0002 | t0001 | g0015 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03209 | hp2 | a0011 | c0008 | t0002 | g0024 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03225 | hp1 | a0005 | c0005 | t0005 | g0041 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03225 | hp2 | a0005 | c0005 | t0005 | g0010 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03492 | hp1 | a0003 | c0002 | t0002 | g0035 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03492 | hp2 | a0001 | c0001 | t0003 | g0009 | SAS | PJL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03516 | hp1 | a0002 | c0003 | t0012 | g0026 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03516 | hp2 | a0004 | c0004 | t0001 | g0021 | AFR | ESN | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA18747 | hp1 | a0003 | c0017 | t0002 | g0030 | EAS | CHB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA18747 | hp2 | a0001 | c0001 | t0003 | g0006 | EAS | CHB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0002 | AFR | YRI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA18906 | hp2 | a0012 | c0010 | t0002 | g0045 | AFR | YRI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19030 | hp1 | a0002 | c0003 | t0001 | g0011 | AFR | LWK | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19030 | hp2 | a0002 | c0003 | t0014 | g0028 | AFR | LWK | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19043 | hp1 | a0004 | c0009 | t0015 | g0027 | AFR | LWK | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19043 | hp2 | a0013 | c0011 | t0004 | g0044 | AFR | LWK | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19066 | hp1 | a0001 | c0001 | t0003 | g0007 | EAS | JPT | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19066 | hp2 | a0001 | c0001 | t0006 | g0054 | EAS | JPT | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19240 | hp1 | a0004 | c0004 | t0001 | g0001 | AFR | YRI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA19240 | hp2 | a0001 | c0001 | t0010 | g0003 | AFR | YRI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA20752 | hp1 | a0002 | c0003 | t0001 | g0004 | EUR | TSI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA20752 | hp2 | a0003 | c0002 | t0002 | g0031 | EUR | TSI | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02486 | hp1 | a0002 | c0003 | t0001 | g0037 | AFR | ACB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG02486 | hp2 | a0004 | c0004 | t0001 | g0022 | AFR | ACB | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03471 | hp1 | a0005 | c0005 | t0005 | g0040 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| HG03471 | hp2 | a0005 | c0005 | t0005 | g0039 | AFR | MSL | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA20300 | hp1 | a0003 | c0002 | t0002 | g0034 | AFR | USA | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| NA20300 | hp2 | a0002 | c0007 | t0008 | g0005 | AFR | USA | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| homoSapiens | chm13v2 | a0002 | c0003 | t0001 | g0012 | REF | REF | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0007 | g0016 | REF | REF | NBPF6_chr1_108445343_108476920 | NBPF6 | chr1 | 108445343 | 108476920 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:108450663 | A | C | 1 | a0007 | 1 | HG01081.hp1 | missense_variant | MODERATE | c.62A>C | p.Asn21Thr | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/15 | 219/3356 | 62/1917 | 21/638 | chr1 | 108450663 | |||
| chr1:108450665 | C | A | 1 | a0007 | 1 | HG01081.hp1 | missense_variant | MODERATE | c.64C>A | p.Gln22Lys | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/15 | 221/3356 | 64/1917 | 22/638 | chr1 | 108450665 | |||
| chr1:108453299 | CCTGATGA others(4): Show |
C | 1 | a0009 | 1 | HG02896.hp2 | frameshift_variant | HIGH | c.398_408delCTGATGAC others(3): Show |
p.Pro133fs | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/15 | 555/3356 | 398/1917 | 133/638 | chr1 | 108453299 | |||
| chr1:108459067 | G | A | 6 | a0002 a0004 a0005 others(3): Show |
28 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(25): Show |
missense_variant | MODERATE | c.986G>A | p.Ser329Asn | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/15 | 1143/3356 | 986/1917 | 329/638 | chr1 | 108459067 | |||
| chr1:108459955 | G | A | 1 | a0005 | 5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
missense_variant | MODERATE | c.1051G>A | p.Val351Met | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/15 | 1208/3356 | 1051/1917 | 351/638 | chr1 | 108459955 | |||
| chr1:108460063 | T | G | 1 | a0010 | 1 | HG03139.hp2 | missense_variant | MODERATE | c.1159T>G | p.Ser387Ala | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/15 | 1316/3356 | 1159/1917 | 387/638 | chr1 | 108460063 | |||
| chr1:108465245 | G | A | 7 | a0002 a0003 a0004 others(4): Show |
39 | HG00438.hp1 HG00558.hp1 HG01099.hp1 others(36): Show |
missense_variant | MODERATE | c.1481G>A | p.Arg494Gln | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/15 | 1638/3356 | 1481/1917 | 494/638 | chr1 | 108465245 | |||
| chr1:108465259 | A | G | 9 | a0002 a0003 a0004 others(6): Show |
44 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(41): Show |
missense_variant | MODERATE | c.1495A>G | p.Ile499Val | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/15 | 1652/3356 | 1495/1917 | 499/638 | chr1 | 108465259 | |||
| chr1:108465356 | G | A | 1 | a0013 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.1592G>A | p.Arg531Gln | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/15 | 1749/3356 | 1592/1917 | 531/638 | chr1 | 108465356 | |||
| chr1:108467519 | T | C | 1 | a0012 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.1729T>C | p.Ser577Pro | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/15 | 1886/3356 | 1729/1917 | 577/638 | chr1 | 108467519 | |||
| chr1:108467639 | G | A | 3 | a0004 a0008 a0010 |
11 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(8): Show |
missense_variant | MODERATE | c.1849G>A | p.Ala617Thr | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/15 | 2006/3356 | 1849/1917 | 617/638 | chr1 | 108467639 | |||
| chr1:108470630 | A | G | 1 | a0008 | 1 | HG02630.hp1 | missense_variant | MODERATE | c.1909A>G | p.Ile637Val | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 2066/3356 | 1909/1917 | 637/638 | chr1 | 108470630 | |||
| chr1:108470631 | T | C | 1 | a0008 | 1 | HG02630.hp1 | missense_variant | MODERATE | c.1910T>C | p.Ile637Thr | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 2067/3356 | 1910/1917 | 637/638 | chr1 | 108470631 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:108450724 | A | G | 3 | a0001c0018 a0005c0005 a0009c0019 |
7 | HG02717.hp1 HG02896.hp2 HG03195.hp2 others(4): Show |
synonymous_variant | LOW | c.123A>G | p.Lys41Lys | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/15 | 280/3356 | 123/1917 | 41/638 | chr1 | 108450724 | |||
| chr1:108455527 | C | T | 6 | a0002c0016 a0003c0017 a0004c0004 others(3): Show |
17 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(14): Show |
synonymous_variant | LOW | c.714C>T | p.Val238Val | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/15 | 871/3356 | 714/1917 | 238/638 | chr1 | 108455527 | |||
| chr1:108459945 | A | G | 2 | a0002c0007 a0004c0009 |
3 | HG02717.hp2 NA19043.hp1 NA20300.hp2 |
synonymous_variant | LOW | c.1041A>G | p.Gly347Gly | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/15 | 1198/3356 | 1041/1917 | 347/638 | chr1 | 108459945 | |||
| chr1:108465255 | T | G | 13 | a0002c0003 a0002c0007 a0002c0016 others(10): Show |
44 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(41): Show |
synonymous_variant | LOW | c.1491T>G | p.Val497Val | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/15 | 1648/3356 | 1491/1917 | 497/638 | chr1 | 108465255 | |||
| chr1:108467647 | G | A | 1 | a0001c0012 | 1 | HG03195.hp1 | synonymous_variant | LOW | c.1857G>A | p.Pro619Pro | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/15 | 2014/3356 | 1857/1917 | 619/638 | chr1 | 108467647 | |||
| chr1:108467659 | T | C | 3 | a0001c0013 a0002c0007 a0005c0005 |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
synonymous_variant | LOW | c.1869T>C | p.Ser623Ser | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/15 | 2026/3356 | 1869/1917 | 623/638 | chr1 | 108467659 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:108450373 | G | A | 8 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show |
22 | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(19): Show |
5_prime_UTR_variant | MODIFIER | c.-127G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 1/15 | 229 | chr1 | 108450373 | ||||||
| chr1:108470718 | C | T | 10 | a0002c0003t0001 a0002c0003t0012 a0002c0003t0014 others(7): Show |
25 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*80C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 80 | chr1 | 108470718 | ||||||
| chr1:108470733 | A | C | 1 | a0003c0002t0016 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*95A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 95 | chr1 | 108470733 | ||||||
| chr1:108470836 | C | T | 25 | a0001c0001t0003 a0001c0001t0004 a0001c0012t0009 others(22): Show |
62 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(59): Show |
3_prime_UTR_variant | MODIFIER | c.*198C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 198 | chr1 | 108470836 | ||||||
| chr1:108470878 | T | C | 1 | a0002c0003t0012 | 1 | HG03516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*240T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 240 | chr1 | 108470878 | ||||||
| chr1:108470882 | G | A | 10 | a0002c0003t0001 a0002c0003t0014 a0003c0002t0001 others(7): Show |
25 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*244G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 244 | chr1 | 108470882 | ||||||
| chr1:108470908 | A | G | 1 | a0002c0003t0012 | 1 | HG03516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*270A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 270 | chr1 | 108470908 | ||||||
| chr1:108471024 | A | T | 1 | a0001c0001t0010 | 1 | NA19240.hp2 | 3_prime_UTR_variant | MODIFIER | c.*386A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 386 | chr1 | 108471024 | ||||||
| chr1:108471054 | T | C | 1 | a0002c0007t0008 | 2 | HG02717.hp2 NA20300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*416T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 416 | chr1 | 108471054 | ||||||
| chr1:108471146 | G | A | 1 | a0001c0012t0009 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*508G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 508 | chr1 | 108471146 | ||||||
| chr1:108471234 | C | A | 5 | a0001c0001t0004 a0001c0012t0009 a0006c0006t0004 others(2): Show |
8 | HG00558.hp2 HG01081.hp1 HG01081.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*596C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 596 | chr1 | 108471234 | ||||||
| chr1:108471235 | G | A | 9 | a0002c0003t0001 a0002c0003t0012 a0003c0002t0001 others(6): Show |
24 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*597G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 597 | chr1 | 108471235 | ||||||
| chr1:108471349 | G | A | 10 | a0002c0003t0001 a0002c0003t0012 a0002c0003t0014 others(7): Show |
25 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*711G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 711 | chr1 | 108471349 | ||||||
| chr1:108471370 | A | G | 2 | a0004c0009t0015 a0005c0005t0005 |
6 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*732A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 15/15 | 732 | chr1 | 108471370 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:108450528 | G | T | 20 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(17): Show |
25 | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(22): Show |
intron_variant | MODIFIER | c.-35-39G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 1/14 | chr1 | 108450528 | |||||||
| chr1:108450542 | A | T | 1 | a0001c0012t0009g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-35-25A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 1/14 | chr1 | 108450542 | |||||||
| chr1:108450963 | C | T | 1 | a0007c0020t0004g0056 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.178+184C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108450963 | |||||||
| chr1:108450989 | G | A | 1 | a0005c0005t0005g0010 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178+210G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108450989 | |||||||
| chr1:108451119 | A | G | 1 | a0002c0003t0001g0043 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.178+340A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451119 | |||||||
| chr1:108451138 | A | T | 1 | a0007c0020t0004g0056 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.178+359A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451138 | |||||||
| chr1:108451200 | C | T | 7 | a0002c0003t0001g0037 a0002c0016t0002g0042 a0005c0005t0005g0010 others(4): Show |
7 | HG02486.hp1 HG02717.hp1 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.178+421C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451200 | |||||||
| chr1:108451316 | C | G | 36 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(33): Show |
41 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(38): Show |
intron_variant | MODIFIER | c.178+537C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451316 | |||||||
| chr1:108451317 | A | G | 36 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(33): Show |
41 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(38): Show |
intron_variant | MODIFIER | c.178+538A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451317 | |||||||
| chr1:108451332 | A | G | 35 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(32): Show |
40 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(37): Show |
intron_variant | MODIFIER | c.178+553A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451332 | |||||||
| chr1:108451433 | G | A | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.178+654G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451433 | |||||||
| chr1:108451495 | C | T | 20 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(17): Show |
25 | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(22): Show |
intron_variant | MODIFIER | c.179-695C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451495 | |||||||
| chr1:108451512 | G | T | 3 | a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 |
3 | HG03017.hp2 HG03492.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.179-678G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451512 | |||||||
| chr1:108451552 | T | C | 6 | a0002c0016t0002g0042 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.179-638T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451552 | |||||||
| chr1:108451657 | G | T | 6 | a0002c0016t0002g0042 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.179-533G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451657 | |||||||
| chr1:108451755 | C | T | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.179-435C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451755 | |||||||
| chr1:108451757 | C | T | 7 | a0001c0001t0003g0055 a0002c0016t0002g0042 a0005c0005t0005g0010 others(4): Show |
7 | HG00621.hp2 HG02717.hp1 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.179-433C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451757 | |||||||
| chr1:108451885 | G | T | 1 | a0007c0020t0004g0056 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.179-305G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451885 | |||||||
| chr1:108451909 | C | T | 25 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(22): Show |
30 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.179-281C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108451909 | |||||||
| chr1:108452006 | C | T | 50 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(47): Show |
57 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.179-184C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452006 | |||||||
| chr1:108452030 | G | T | 1 | a0007c0020t0004g0056 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.179-160G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452030 | |||||||
| chr1:108452079 | T | C | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.179-111T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452079 | |||||||
| chr1:108452097 | C | T | 25 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(22): Show |
30 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.179-93C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452097 | |||||||
| chr1:108452116 | G | A | 1 | a0012c0010t0002g0045 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.179-74G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452116 | |||||||
| chr1:108452132 | C | G | 37 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(34): Show |
43 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.179-58C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 2/14 | chr1 | 108452132 | |||||||
| chr1:108452303 | A | G | 6 | a0002c0016t0002g0042 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.278+14A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452303 | |||||||
| chr1:108452304 | T | C | 27 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(24): Show |
32 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(29): Show |
intron_variant | MODIFIER | c.278+15T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452304 | |||||||
| chr1:108452330 | G | T | 6 | a0002c0016t0002g0042 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.278+41G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452330 | |||||||
| chr1:108452462 | G | C | 26 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(23): Show |
31 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.278+173G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452462 | |||||||
| chr1:108452623 | C | A | 5 | a0001c0001t0003g0046 a0002c0003t0001g0037 a0002c0003t0012g0026 others(2): Show |
5 | HG02486.hp1 HG02922.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.278+334C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452623 | |||||||
| chr1:108452696 | C | A | 2 | a0001c0001t0003g0006 a0001c0001t0003g0055 |
3 | HG00438.hp2 HG00621.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.278+407C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452696 | |||||||
| chr1:108452699 | T | C | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.278+410T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452699 | |||||||
| chr1:108452756 | G | C | 1 | a0003c0002t0002g0034 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.279-425G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452756 | |||||||
| chr1:108452757 | C | A | 25 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(22): Show |
30 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(27): Show |
intron_variant | MODIFIER | c.279-424C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452757 | |||||||
| chr1:108452757 | C | G | 1 | a0003c0002t0002g0034 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.279-424C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452757 | |||||||
| chr1:108452780 | T | C | 6 | a0003c0002t0002g0029 a0003c0002t0002g0031 a0003c0002t0002g0032 others(3): Show |
6 | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.279-401T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452780 | |||||||
| chr1:108452786 | A | G | 1 | a0002c0003t0014g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.279-395A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452786 | |||||||
| chr1:108452865 | C | T | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.279-316C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452865 | |||||||
| chr1:108452866 | G | A | 40 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(37): Show |
46 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.279-315G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452866 | |||||||
| chr1:108452897 | G | A | 40 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(37): Show |
46 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.279-284G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452897 | |||||||
| chr1:108452909 | T | C | 40 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(37): Show |
46 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.279-272T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452909 | |||||||
| chr1:108452912 | G | C | 6 | a0002c0016t0002g0042 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.279-269G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452912 | |||||||
| chr1:108452916 | C | A | 40 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(37): Show |
46 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(43): Show |
intron_variant | MODIFIER | c.279-265C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452916 | |||||||
| chr1:108452928 | C | G | 26 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(23): Show |
31 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.279-253C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452928 | |||||||
| chr1:108452962 | G | GTTGTATA others(4): Show |
1 | a0001c0001t0004g0047 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.279-218_279-217ins others(11): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452962 | ||||||
| chr1:108452962 | G | GTTTGTAT others(8): Show |
1 | a0003c0002t0002g0034 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.279-218_279-217ins others(15): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452962 | ||||||
| chr1:108452962 | G | GTTTGTAT others(5): Show |
26 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(23): Show |
31 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.279-218_279-217ins others(12): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452962 | ||||||
| chr1:108452962 | G | GTTTGTAT others(7): Show |
11 | a0002c0003t0012g0026 a0002c0003t0014g0028 a0004c0004t0001g0001 others(8): Show |
12 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.279-218_279-217ins others(14): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452962 | ||||||
| chr1:108452962 | G | GTTTGTAT others(27): Show |
1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.279-218_279-217ins others(34): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452962 | ||||||
| chr1:108452964 | G | A | 1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.279-217G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452964 | |||||||
| chr1:108452968 | G | A | 2 | a0002c0003t0001g0037 a0005c0005t0005g0038 |
2 | HG02486.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.279-213G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452968 | |||||||
| chr1:108452972 | A | G | 1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.279-209A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452972 | |||||||
| chr1:108452972 | A | T | 2 | a0004c0009t0015g0027 a0005c0005t0005g0038 |
2 | HG02717.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.279-209A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452972 | |||||||
| chr1:108452976 | T | G | 1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.279-205T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452976 | |||||||
| chr1:108452976 | T | TTGTATAT others(1): Show |
9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.279-202_279-201ins others(8): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452976 | ||||||
| chr1:108452976 | T | TTGTATAT others(5): Show |
2 | a0002c0003t0012g0026 a0002c0003t0014g0028 |
2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.279-202_279-201ins others(12): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452976 | ||||||
| chr1:108452978 | G | GTATA | 15 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(12): Show |
20 | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.279-202_279-201ins others(4): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452978 | ||||||
| chr1:108452978 | G | GTATATA | 3 | a0001c0001t0003g0046 a0003c0002t0002g0035 a0009c0019t0002g0051 |
3 | HG02896.hp2 HG02922.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.279-202_279-201ins others(6): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452978 | ||||||
| chr1:108452978 | G | GTATATAT others(3): Show |
4 | a0001c0001t0006g0054 a0001c0012t0009g0057 a0001c0013t0006g0053 others(1): Show |
4 | HG01081.hp1 HG01433.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.279-202_279-201ins others(10): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452978 | ||||||
| chr1:108452978 | GTT | G | 5 | a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 others(2): Show |
5 | HG00438.hp1 HG01981.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.279-201_279-200del others(2): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452978 | ||||||
| chr1:108452980 | T | A | 25 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(22): Show |
31 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.279-201T>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452980 | |||||||
| chr1:108452980 | T | G | 14 | a0001c0001t0003g0046 a0001c0001t0006g0054 a0001c0012t0009g0057 others(11): Show |
15 | HG01081.hp1 HG01433.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.279-201T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452980 | |||||||
| chr1:108452980 | T | TTGTG | 3 | a0005c0005t0005g0010 a0005c0005t0005g0040 a0005c0005t0005g0041 |
3 | HG03225.hp1 HG03225.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.279-175_279-172dup others(4): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | 108452980 | ||||||
| chr1:108452982 | G | A | 9 | a0001c0001t0003g0046 a0003c0002t0002g0029 a0003c0002t0002g0031 others(6): Show |
9 | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(6): Show |
intron_variant | MODIFIER | c.279-199G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452982 | |||||||
| chr1:108452984 | G | A | 21 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(18): Show |
26 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(23): Show |
intron_variant | MODIFIER | c.279-197G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452984 | |||||||
| chr1:108452986 | G | A | 5 | a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 others(2): Show |
5 | HG00438.hp1 HG01981.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.279-195G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452986 | |||||||
| chr1:108452988 | G | A | 1 | a0003c0002t0002g0029 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.279-193G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452988 | |||||||
| chr1:108452990 | G | A | 5 | a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 others(2): Show |
5 | HG00438.hp1 HG01981.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.279-191G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108452990 | |||||||
| chr1:108453006 | G | A | 2 | a0001c0001t0003g0046 a0003c0002t0002g0035 |
2 | HG02922.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.279-175G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453006 | |||||||
| chr1:108453008 | G | A | 8 | a0001c0001t0003g0046 a0002c0003t0001g0011 a0002c0007t0008g0005 others(5): Show |
9 | HG00558.hp1 HG02717.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.279-173G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453008 | |||||||
| chr1:108453010 | A | G | 19 | a0001c0001t0003g0009 a0001c0001t0003g0052 a0002c0003t0001g0037 others(16): Show |
21 | HG00621.hp1 HG01099.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.279-171A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453010 | |||||||
| chr1:108453012 | A | G | 10 | a0002c0003t0001g0037 a0002c0003t0014g0028 a0004c0004t0001g0001 others(7): Show |
11 | HG01099.hp2 HG01891.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.279-169A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453012 | |||||||
| chr1:108453014 | A | G | 4 | a0002c0003t0001g0037 a0004c0004t0001g0001 a0004c0004t0001g0023 others(1): Show |
5 | HG01891.hp2 HG02486.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.279-167A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453014 | |||||||
| chr1:108453103 | C | G | 28 | a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 others(25): Show |
33 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(30): Show |
intron_variant | MODIFIER | c.279-78C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 3/14 | chr1 | 108453103 | |||||||
| chr1:108453808 | T | C | 6 | a0003c0002t0002g0029 a0003c0002t0002g0031 a0003c0002t0002g0032 others(3): Show |
6 | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.493+413T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108453808 | |||||||
| chr1:108453857 | C | G | 1 | a0002c0003t0012g0026 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.493+462C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108453857 | |||||||
| chr1:108453879 | G | A | 2 | a0002c0007t0008g0005 a0011c0008t0002g0024 |
3 | HG02717.hp2 HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.493+484G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108453879 | |||||||
| chr1:108453962 | A | G | 13 | a0002c0003t0001g0037 a0002c0003t0012g0026 a0002c0003t0014g0028 others(10): Show |
14 | HG01099.hp2 HG01891.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.494-477A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108453962 | |||||||
| chr1:108454009 | C | T | 2 | a0002c0007t0008g0005 a0011c0008t0002g0024 |
3 | HG02717.hp2 HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.494-430C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108454009 | |||||||
| chr1:108454089 | C | T | 2 | a0004c0004t0001g0022 a0013c0011t0004g0044 |
2 | HG02486.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.494-350C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108454089 | |||||||
| chr1:108454090 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.494-349G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108454090 | |||||||
| chr1:108454155 | T | C | 12 | a0002c0016t0002g0042 a0003c0002t0002g0025 a0003c0002t0002g0034 others(9): Show |
13 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.494-284T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 4/14 | chr1 | 108454155 | |||||||
| chr1:108454630 | G | A | 1 | a0001c0001t0003g0048 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.572+113G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108454630 | |||||||
| chr1:108454719 | C | T | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.572+202C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108454719 | |||||||
| chr1:108455137 | T | C | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.573-249T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108455137 | |||||||
| chr1:108455142 | C | G | 12 | a0002c0003t0001g0037 a0002c0003t0012g0026 a0002c0003t0014g0028 others(9): Show |
13 | HG01099.hp2 HG01891.hp2 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.573-244C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108455142 | |||||||
| chr1:108455229 | G | A | 1 | a0003c0002t0002g0035 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.573-157G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108455229 | |||||||
| chr1:108455253 | T | C | 1 | a0001c0001t0003g0052 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.573-133T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 5/14 | chr1 | 108455253 | |||||||
| chr1:108455702 | G | A | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.784+105G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108455702 | |||||||
| chr1:108455724 | C | A | 2 | a0002c0003t0001g0037 a0002c0003t0014g0028 |
2 | HG02486.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.784+127C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108455724 | |||||||
| chr1:108455750 | G | A | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.784+153G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108455750 | |||||||
| chr1:108455816 | G | A | 28 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(25): Show |
31 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(28): Show |
intron_variant | MODIFIER | c.784+219G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108455816 | |||||||
| chr1:108455969 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.784+372G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108455969 | |||||||
| chr1:108456015 | G | A | 1 | a0002c0003t0014g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.784+418G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456015 | |||||||
| chr1:108456038 | G | GGAAAGAA others(11): Show |
1 | a0001c0001t0003g0048 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.784+465_784+482dup others(18): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | 108456038 | ||||||
| chr1:108456038 | GGAAAGAA others(11): Show |
G | 7 | a0002c0003t0014g0028 a0003c0002t0001g0015 a0005c0005t0005g0010 others(4): Show |
7 | HG02717.hp1 HG03209.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.784+465_784+482del others(18): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | 108456038 | ||||||
| chr1:108456049 | AAAAG | A | 9 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(6): Show |
11 | HG01099.hp1 HG01978.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.784+468_784+471del others(4): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | 108456049 | ||||||
| chr1:108456060 | AGAAAGAA others(12): Show |
A | 1 | a0003c0017t0002g0030 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.784+465_784+483del others(19): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | 108456060 | ||||||
| chr1:108456065 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.784+468G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456065 | |||||||
| chr1:108456150 | G | A | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.784+553G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456150 | |||||||
| chr1:108456294 | G | A | 8 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(5): Show |
9 | HG01099.hp1 HG01978.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.784+697G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456294 | |||||||
| chr1:108456338 | G | T | 3 | a0002c0007t0008g0005 a0004c0009t0015g0027 a0011c0008t0002g0024 |
4 | HG02717.hp2 HG03209.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.785-669G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456338 | |||||||
| chr1:108456490 | G | A | 6 | a0003c0017t0002g0030 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.785-517G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456490 | |||||||
| chr1:108456569 | C | T | 2 | a0002c0007t0008g0005 a0011c0008t0002g0024 |
3 | HG02717.hp2 HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.785-438C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456569 | |||||||
| chr1:108456680 | A | T | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.785-327A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456680 | |||||||
| chr1:108456776 | T | C | 11 | a0002c0016t0002g0042 a0003c0017t0002g0030 a0004c0004t0001g0001 others(8): Show |
12 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.785-231T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456776 | |||||||
| chr1:108456777 | G | A | 10 | a0002c0016t0002g0042 a0004c0004t0001g0001 a0004c0004t0001g0017 others(7): Show |
11 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.785-230G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456777 | |||||||
| chr1:108456877 | G | A | 1 | a0001c0012t0009g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.785-130G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 6/14 | chr1 | 108456877 | |||||||
| chr1:108457480 | G | A | 2 | a0002c0003t0014g0028 a0004c0009t0015g0027 |
2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.836+422G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 7/14 | chr1 | 108457480 | |||||||
| chr1:108457603 | C | T | 24 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(21): Show |
26 | HG00438.hp1 HG00558.hp1 HG01099.hp1 others(23): Show |
intron_variant | MODIFIER | c.837-333C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 7/14 | chr1 | 108457603 | |||||||
| chr1:108457634 | C | T | 1 | a0001c0001t0003g0046 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.837-302C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 7/14 | chr1 | 108457634 | |||||||
| chr1:108457750 | T | C | 35 | a0001c0001t0003g0046 a0002c0003t0001g0004 a0002c0003t0001g0011 others(32): Show |
38 | HG00438.hp1 HG00558.hp1 HG01099.hp1 others(35): Show |
intron_variant | MODIFIER | c.837-186T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 7/14 | chr1 | 108457750 | |||||||
| chr1:108457853 | T | C | 1 | a0004c0004t0001g0017 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.837-83T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 7/14 | chr1 | 108457853 | |||||||
| chr1:108458119 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.976+44G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458119 | |||||||
| chr1:108458163 | G | A | 17 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(14): Show |
19 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.976+88G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458163 | |||||||
| chr1:108458291 | C | T | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.976+216C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458291 | |||||||
| chr1:108458331 | G | A | 17 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(14): Show |
19 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.976+256G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458331 | |||||||
| chr1:108458398 | C | T | 17 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(14): Show |
19 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.976+323C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458398 | |||||||
| chr1:108458513 | G | A | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.976+438G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458513 | |||||||
| chr1:108458741 | A | C | 1 | a0005c0005t0005g0041 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.977-317A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458741 | |||||||
| chr1:108458750 | G | A | 1 | a0001c0001t0004g0047 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.977-308G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458750 | |||||||
| chr1:108458802 | C | G | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.977-256C>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458802 | |||||||
| chr1:108458827 | G | C | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.977-231G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458827 | |||||||
| chr1:108458903 | A | T | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.977-155A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458903 | |||||||
| chr1:108458955 | G | A | 7 | a0003c0002t0002g0029 a0003c0002t0002g0031 a0003c0002t0002g0032 others(4): Show |
7 | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.977-103G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458955 | |||||||
| chr1:108458964 | G | A | 25 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(22): Show |
28 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.977-94G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458964 | |||||||
| chr1:108458981 | T | A | 25 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(22): Show |
28 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.977-77T>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 8/14 | chr1 | 108458981 | |||||||
| chr1:108459190 | A | T | 2 | a0003c0002t0001g0015 a0003c0002t0016g0013 |
2 | HG02818.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1028+81A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459190 | |||||||
| chr1:108459276 | G | GC | 25 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(22): Show |
28 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.1028+168dupC | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | 108459276 | ||||||
| chr1:108459293 | C | A | 1 | a0012c0010t0002g0045 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1028+184C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459293 | |||||||
| chr1:108459295 | T | C | 25 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(22): Show |
28 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.1028+186T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459295 | |||||||
| chr1:108459336 | A | T | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1028+227A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459336 | |||||||
| chr1:108459619 | GT | G | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1029-312delT | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | 108459619 | ||||||
| chr1:108459624 | A | G | 26 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(23): Show |
29 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(26): Show |
intron_variant | MODIFIER | c.1029-309A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459624 | |||||||
| chr1:108459720 | A | T | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1029-213A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459720 | |||||||
| chr1:108459747 | T | G | 1 | a0009c0019t0002g0051 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1029-186T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459747 | |||||||
| chr1:108459748 | T | C | 4 | a0002c0016t0002g0042 a0003c0002t0016g0013 a0010c0014t0001g0018 others(1): Show |
4 | HG02818.hp1 HG03017.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.1029-185T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459748 | |||||||
| chr1:108459820 | G | C | 2 | a0003c0002t0016g0013 a0011c0008t0002g0024 |
2 | HG02818.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1029-113G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459820 | |||||||
| chr1:108459825 | A | G | 1 | a0002c0003t0012g0026 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1029-108A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459825 | |||||||
| chr1:108459849 | C | T | 1 | a0005c0005t0005g0038 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1029-84C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 9/14 | chr1 | 108459849 | |||||||
| chr1:108460131 | T | A | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1198+29T>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460131 | |||||||
| chr1:108460273 | C | T | 12 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(9): Show |
14 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.1198+171C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460273 | |||||||
| chr1:108460499 | C | T | 21 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(18): Show |
24 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.1198+397C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460499 | |||||||
| chr1:108460526 | A | G | 2 | a0002c0016t0002g0042 a0011c0008t0002g0024 |
2 | HG03017.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1198+424A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460526 | |||||||
| chr1:108460569 | G | C | 40 | a0001c0001t0003g0046 a0001c0001t0004g0047 a0001c0012t0009g0057 others(37): Show |
43 | HG00438.hp1 HG00558.hp1 HG01099.hp1 others(40): Show |
intron_variant | MODIFIER | c.1198+467G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460569 | |||||||
| chr1:108460596 | G | C | 1 | a0010c0014t0001g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1198+494G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460596 | |||||||
| chr1:108460711 | T | C | 2 | a0002c0016t0002g0042 a0011c0008t0002g0024 |
2 | HG03017.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1199-422T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460711 | |||||||
| chr1:108460716 | G | C | 2 | a0002c0016t0002g0042 a0011c0008t0002g0024 |
2 | HG03017.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1199-417G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460716 | |||||||
| chr1:108460779 | G | A | 1 | a0003c0002t0002g0035 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1199-354G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460779 | |||||||
| chr1:108460825 | G | T | 8 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(5): Show |
9 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.1199-308G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108460825 | |||||||
| chr1:108461045 | A | G | 2 | a0002c0016t0002g0042 a0011c0008t0002g0024 |
2 | HG03017.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1199-88A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108461045 | |||||||
| chr1:108461051 | A | G | 17 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(14): Show |
20 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.1199-82A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108461051 | |||||||
| chr1:108461075 | T | C | 2 | a0003c0002t0001g0015 a0003c0002t0016g0013 |
2 | HG02818.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1199-58T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108461075 | |||||||
| chr1:108461098 | T | C | 1 | a0001c0012t0009g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1199-35T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 10/14 | chr1 | 108461098 | |||||||
| chr1:108461209 | T | A | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1250+25T>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461209 | |||||||
| chr1:108461283 | T | C | 2 | a0002c0003t0001g0037 a0002c0016t0002g0042 |
2 | HG02486.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.1250+99T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461283 | |||||||
| chr1:108461324 | T | G | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1250+140T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461324 | |||||||
| chr1:108461463 | G | A | 4 | a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0052 others(1): Show |
6 | HG00621.hp1 HG01978.hp2 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.1250+279G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461463 | |||||||
| chr1:108461575 | A | C | 2 | a0003c0002t0001g0015 a0003c0002t0016g0013 |
2 | HG02818.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1251-341A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461575 | |||||||
| chr1:108461627 | T | C | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1251-289T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461627 | |||||||
| chr1:108461672 | G | A | 17 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(14): Show |
19 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.1251-244G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461672 | |||||||
| chr1:108461699 | G | A | 18 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(15): Show |
20 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.1251-217G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461699 | |||||||
| chr1:108461708 | A | T | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1251-208A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 11/14 | chr1 | 108461708 | |||||||
| chr1:108462584 | T | C | 20 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(17): Show |
23 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.1423+496T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462584 | |||||||
| chr1:108462625 | C | T | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1423+537C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462625 | |||||||
| chr1:108462790 | C | T | 1 | a0003c0002t0016g0013 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1423+702C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462790 | |||||||
| chr1:108462864 | A | G | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1423+776A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462864 | |||||||
| chr1:108462943 | G | A | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1423+855G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462943 | |||||||
| chr1:108462972 | G | T | 1 | a0003c0002t0002g0032 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1423+884G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108462972 | |||||||
| chr1:108462999 | TC | T | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1423+918delC | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | 108462999 | ||||||
| chr1:108463012 | G | T | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1423+924G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463012 | |||||||
| chr1:108463072 | C | T | 1 | a0004c0004t0001g0023 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1423+984C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463072 | |||||||
| chr1:108463103 | C | T | 2 | a0002c0007t0008g0005 a0002c0016t0002g0042 |
3 | HG02717.hp2 HG03017.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1423+1015C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463103 | |||||||
| chr1:108463119 | C | T | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1423+1031C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463119 | |||||||
| chr1:108463278 | C | T | 19 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(16): Show |
21 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.1423+1190C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463278 | |||||||
| chr1:108463279 | G | A | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1423+1191G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463279 | |||||||
| chr1:108463368 | A | T | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1423+1280A>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463368 | |||||||
| chr1:108463369 | T | C | 3 | a0001c0001t0003g0009 a0001c0001t0003g0052 a0002c0016t0002g0042 |
4 | HG00621.hp1 HG01978.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+1281T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463369 | |||||||
| chr1:108463370 | G | A | 3 | a0001c0001t0003g0009 a0001c0001t0003g0052 a0002c0016t0002g0042 |
4 | HG00621.hp1 HG01978.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+1282G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463370 | |||||||
| chr1:108463399 | T | G | 1 | a0002c0003t0001g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1423+1311T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463399 | |||||||
| chr1:108463408 | A | G | 8 | a0001c0001t0003g0009 a0001c0001t0003g0052 a0002c0003t0001g0004 others(5): Show |
11 | HG00621.hp1 HG01099.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.1423+1320A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463408 | |||||||
| chr1:108463696 | C | T | 1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1424-1492C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463696 | |||||||
| chr1:108463756 | G | T | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1424-1432G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463756 | |||||||
| chr1:108463776 | T | C | 27 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(24): Show |
30 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(27): Show |
intron_variant | MODIFIER | c.1424-1412T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463776 | |||||||
| chr1:108463881 | G | GGTCA | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1424-1305_1424-130 others(8): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | 108463881 | ||||||
| chr1:108463884 | A | C | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1424-1304A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463884 | |||||||
| chr1:108463887 | TGCCTTTC others(114): Show |
T | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1424-1300_1424-118 others(4): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463887 | |||||||
| chr1:108463991 | G | A | 20 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(17): Show |
23 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.1424-1197G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108463991 | |||||||
| chr1:108464111 | A | G | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1424-1077A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464111 | |||||||
| chr1:108464151 | C | T | 2 | a0004c0004t0001g0021 a0010c0014t0001g0018 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1424-1037C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464151 | |||||||
| chr1:108464354 | C | T | 1 | a0001c0012t0009g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1424-834C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464354 | |||||||
| chr1:108464355 | G | A | 9 | a0004c0004t0001g0001 a0004c0004t0001g0017 a0004c0004t0001g0019 others(6): Show |
10 | HG01099.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1424-833G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464355 | |||||||
| chr1:108464585 | G | A | 18 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(15): Show |
20 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.1424-603G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464585 | |||||||
| chr1:108464681 | A | C | 1 | a0012c0010t0002g0045 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1424-507A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464681 | |||||||
| chr1:108464682 | A | G | 1 | a0005c0005t0005g0041 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1424-506A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464682 | |||||||
| chr1:108464721 | C | T | 6 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(3): Show |
7 | HG01099.hp1 HG01978.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.1424-467C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464721 | |||||||
| chr1:108464859 | T | G | 42 | a0001c0001t0003g0046 a0001c0001t0003g0055 a0002c0003t0001g0004 others(39): Show |
46 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.1424-329T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464859 | |||||||
| chr1:108464879 | T | C | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1424-309T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464879 | |||||||
| chr1:108464898 | T | G | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1424-290T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108464898 | |||||||
| chr1:108465096 | C | T | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1424-92C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | 108465096 | |||||||
| chr1:108465439 | G | A | 4 | a0001c0001t0003g0002 a0001c0018t0002g0002 a0009c0019t0002g0051 others(1): Show |
5 | HG02896.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1660+15G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465439 | |||||||
| chr1:108465442 | G | A | 2 | a0002c0016t0002g0042 a0004c0009t0015g0027 |
2 | HG03017.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1660+18G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465442 | |||||||
| chr1:108465588 | C | T | 14 | a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0043 others(11): Show |
16 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.1660+164C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465588 | |||||||
| chr1:108465640 | C | T | 1 | a0006c0006t0004g0050 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1660+216C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465640 | |||||||
| chr1:108465703 | C | T | 40 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(37): Show |
44 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.1660+279C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465703 | |||||||
| chr1:108465822 | T | C | 40 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(37): Show |
44 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.1660+398T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465822 | |||||||
| chr1:108465831 | C | T | 15 | a0002c0003t0001g0004 a0002c0003t0001g0014 a0002c0003t0001g0037 others(12): Show |
17 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.1660+407C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465831 | |||||||
| chr1:108465869 | T | G | 1 | a0002c0016t0002g0042 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1660+445T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465869 | |||||||
| chr1:108465878 | G | A | 6 | a0003c0002t0002g0025 a0005c0005t0005g0010 a0005c0005t0005g0038 others(3): Show |
6 | HG02717.hp1 HG02896.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1660+454G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108465878 | |||||||
| chr1:108466001 | T | C | 1 | a0002c0003t0001g0037 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1660+577T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466001 | |||||||
| chr1:108466045 | A | G | 19 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(16): Show |
21 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.1660+621A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466045 | |||||||
| chr1:108466074 | CT | C | 21 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(18): Show |
24 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.1660+658delT | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr1 | 108466074 | ||||||
| chr1:108466131 | T | G | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1660+707T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466131 | |||||||
| chr1:108466275 | C | A | 1 | a0002c0003t0001g0014 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1660+851C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466275 | |||||||
| chr1:108466374 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1660+950G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466374 | |||||||
| chr1:108466460 | G | A | 4 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(1): Show |
5 | HG01099.hp1 HG01978.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.1661-991G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466460 | |||||||
| chr1:108466630 | G | C | 20 | a0001c0001t0003g0048 a0002c0003t0001g0004 a0002c0003t0001g0011 others(17): Show |
22 | HG01099.hp1 HG01099.hp2 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.1661-821G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466630 | |||||||
| chr1:108466736 | T | G | 1 | a0013c0011t0004g0044 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1661-715T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466736 | |||||||
| chr1:108466814 | TA | T | 2 | a0004c0004t0001g0021 a0010c0014t0001g0018 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1661-636delA | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466814 | |||||||
| chr1:108466854 | T | G | 4 | a0002c0003t0001g0037 a0002c0003t0012g0026 a0002c0016t0002g0042 others(1): Show |
4 | HG02486.hp1 HG03017.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1661-597T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466854 | |||||||
| chr1:108466945 | T | C | 1 | a0003c0002t0002g0036 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1661-506T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466945 | |||||||
| chr1:108466989 | C | A | 2 | a0002c0003t0001g0014 a0002c0003t0001g0043 |
2 | HG01099.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.1661-462C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108466989 | |||||||
| chr1:108467044 | G | A | 8 | a0003c0002t0002g0029 a0003c0002t0002g0031 a0003c0002t0002g0032 others(5): Show |
8 | HG00438.hp1 HG00558.hp1 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.1661-407G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108467044 | |||||||
| chr1:108467057 | G | C | 4 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(1): Show |
5 | HG01099.hp1 HG01978.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.1661-394G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108467057 | |||||||
| chr1:108467187 | T | G | 1 | a0012c0010t0002g0045 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1661-264T>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108467187 | |||||||
| chr1:108467321 | G | A | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1661-130G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108467321 | |||||||
| chr1:108467334 | C | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1661-117C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 13/14 | chr1 | 108467334 | |||||||
| chr1:108467711 | T | C | 7 | a0001c0013t0006g0053 a0004c0004t0001g0023 a0005c0005t0005g0010 others(4): Show |
7 | HG01433.hp1 HG02717.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1875+46T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108467711 | |||||||
| chr1:108467833 | C | T | 8 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(5): Show |
9 | HG01433.hp1 HG02630.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.1875+168C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108467833 | |||||||
| chr1:108467848 | T | C | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+183T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108467848 | |||||||
| chr1:108467886 | A | G | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+221A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108467886 | |||||||
| chr1:108467984 | C | T | 1 | a0006c0006t0004g0049 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1875+319C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108467984 | |||||||
| chr1:108468050 | G | C | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+385G>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468050 | |||||||
| chr1:108468053 | T | C | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+388T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468053 | |||||||
| chr1:108468058 | A | G | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+393A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468058 | |||||||
| chr1:108468074 | G | A | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+409G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468074 | |||||||
| chr1:108468084 | C | T | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+419C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468084 | |||||||
| chr1:108468105 | T | C | 19 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(16): Show |
21 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.1875+440T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468105 | |||||||
| chr1:108468192 | C | T | 7 | a0001c0013t0006g0053 a0002c0007t0008g0005 a0005c0005t0005g0010 others(4): Show |
8 | HG01433.hp1 HG02717.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1875+527C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468192 | |||||||
| chr1:108468237 | A | G | 9 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(6): Show |
10 | HG01099.hp1 HG01978.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1875+572A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468237 | |||||||
| chr1:108468309 | G | T | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1875+644G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468309 | |||||||
| chr1:108468324 | C | T | 4 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(1): Show |
5 | HG01099.hp1 HG01978.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.1875+659C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468324 | |||||||
| chr1:108468380 | G | T | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1875+715G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468380 | |||||||
| chr1:108468395 | A | G | 1 | a0002c0007t0008g0005 | 2 | HG02717.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1875+730A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468395 | |||||||
| chr1:108468499 | G | T | 1 | a0002c0003t0014g0028 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1875+834G>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468499 | |||||||
| chr1:108468504 | G | A | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1875+839G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468504 | |||||||
| chr1:108468540 | A | G | 1 | a0004c0004t0001g0017 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1875+875A>G | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468540 | |||||||
| chr1:108468643 | C | T | 1 | a0004c0009t0015g0027 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1875+978C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468643 | |||||||
| chr1:108468743 | C | T | 9 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(6): Show |
10 | HG01099.hp1 HG01978.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1875+1078C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468743 | |||||||
| chr1:108468806 | G | A | 1 | a0003c0002t0002g0036 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1875+1141G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468806 | |||||||
| chr1:108468953 | T | C | 16 | a0001c0001t0007g0003 a0001c0001t0010g0003 a0002c0003t0001g0004 others(13): Show |
18 | HG01099.hp1 HG01891.hp1 HG01978.hp1 others(15): Show |
intron_variant | MODIFIER | c.1875+1288T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108468953 | |||||||
| chr1:108469263 | T | C | 5 | a0005c0005t0005g0010 a0005c0005t0005g0038 a0005c0005t0005g0039 others(2): Show |
5 | HG02717.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1876-1334T>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108469263 | |||||||
| chr1:108469468 | A | C | 7 | a0004c0009t0015g0027 a0005c0005t0005g0010 a0005c0005t0005g0038 others(4): Show |
7 | HG01081.hp1 HG02717.hp1 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1876-1129A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108469468 | |||||||
| chr1:108469691 | T | A | 19 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(16): Show |
21 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.1876-906T>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108469691 | |||||||
| chr1:108469763 | GTCTCTTT others(8): Show |
G | 1 | a0002c0003t0012g0026 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1876-831_1876-817d others(17): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | 108469763 | ||||||
| chr1:108469834 | A | AT | 7 | a0003c0002t0016g0013 a0004c0004t0001g0017 a0005c0005t0005g0010 others(4): Show |
7 | HG02630.hp2 HG02717.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1876-756dupT | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | 108469834 | ||||||
| chr1:108470154 | G | A | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1876-443G>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108470154 | |||||||
| chr1:108470297 | C | A | 24 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(21): Show |
26 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.1876-300C>A | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108470297 | |||||||
| chr1:108470472 | C | T | 23 | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0014 others(20): Show |
25 | HG01099.hp1 HG01099.hp2 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1876-125C>T | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108470472 | |||||||
| chr1:108470521 | A | C | 1 | a0003c0002t0002g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1876-76A>C | NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 14/14 | chr1 | 108470521 |